B-1

Causal Analysis Centering Inadequate Social Adaptation in Epileptic Children Norihiko Ishikawa, MD, Yasuhide Nakamura, MD, Noboru Kobayashi, MD, Department of Pediatrics, The University of Tokyo, Tokyo

In order to detect the cause of inadequate social adap­tation in epileptic children, we analyzed 10 cases of epileptic children (Group A) with psychological prob­lems, ie hysteria, anthroporophobia, and violence, by our own evaluation method. * Eleven cases with the same kinds of psychological problems but not epilep­tic seizures (Group B) were analyzed as a control.

Disturbance in family dynamics was variable in its quality in group B, but rather simple in group A. First, in most cases, the disturbance proceeded gradually after the diagnosis. Secondly, most fathers showed negative attitudes toward their children while mothers were aggressive, especially overprotective. Thirdly, parents often had different attitudes how to evaluate their children.

Environmental problems, either scholastic or occu­pational, were more severe for epileptic children. First, it made the readjustment of family 9ynamics difficult. Secondly, the outbreak of the psychological manifes­tations almost always was related to such_problems as isolation from schoolmates, special education discri­minated from the ordinary school or missing the job. Thirdly, misunderstandings of the society that the "epileptic personality" is an inevitable character of this disease, hindered realization of the fact that these psychological manifestations are reactive process of the children to readjust the relationship between environments and themselves.

Psychological treatment was less effective in group A than B, although in severe cases family therapy played a large role. In mild cases, if adequate envi­ronmental change once occurred, sudden improvement could be expected. This change need not be so obvi­ous, but migh t be subtle.

This study suggests that we should pay more atten­tion not only to medical epileptology and neuropsy­chology but also to sociopsychology, especially proper understanding of epilepsy, hazards of discriminating education and work problems.

*Reference: The 81st Annual Meeting of Societas Paediatric a J aponica.

B-2

A Case of Laughing Seizure Regarded as Infan­tile Spasms Kiyoshi Takaya, MD, Hidehiko Okazaki, MD, Katsuyo Hashimoto, MD, Kaoru Konishi, MD, Department of Pediatrics, Biwako Gakuen Hospital, Shiga (KT, HO), Department of Pediatrics, Kisshoin Hospital, Kyoto (KH, KK)

This six-year-old girl came to the hospital at the age of 1 year and 11 months, with the chief complaint of developmental delay. Treatment for an autistic trend, considered to be the main problem at that time, im­proved her very much. From the age of 2 years and 5 months, sudden laughter was observed during midnight sleep and at the time of rising, which gradually in­creased in frequency and degree (from once in ten days to every day, and from five minutes to two hours). When she was 3-year-and-l-month-old, modi­fied hypsarhythmia was observed in EEG. Laughing seizure was clinically much improved by nitrazepam, but the finding in EEG was not improved unitl the pa­tient entered the hospital to be injected with 20 units of ACTH per day for 30 days. Even occasional slight seizures, observed until 4-year-and-6-month-old, now disappeared, and then the patient has a gradual lessen­ing of the amount of medicine. In this case, only slight dilatation of ventricle (left > right) was observed in CT scan, and no mental handicap was observed.

The clinical seizure pattern of this case was laugh­ing, but from the electroencephalographical point of view and from the result of treatment, it could be infantile spasms_ Though seizure of infantile spasms with laughing is not rare, laughing as the onlyexpres­sion of infantile spasms might be interesting. The diencephalon as well as pons and cerebrum are con­sidered to be the focus of laughing seizure. This case, being accompanied by a temporary autistic trend, might contribute to the idea of focus of laughing seizure and infan tile spasms.

Brain & Development, Vall, No 3,1979 227

B-3

A Case of Multiple Infarction Following Status Epilepticus Osamu Matsuoka, MD, Yukinobu Osasa, MD, Shinobu Higami, MD, Ken Fujitani, MD, Yuichi Inoue, MD, De· partment of Pediatrics (OM, YO, SH), Neurosurgery (KF) and Radiology (YI), Osaka City University Medi· cal School, Osaka

A 2-year-and-9-month-old epileptic boy, who had sei­zure onset at one year old, was admitted 30 days after status epilepticus of right hemiconvulsion and/or gen­eralized tonic convulsion which had continued for three days. On admission he showed decortical posture with disturbed consciousness. EEG showed almost a fla t pattern in all leads. CT scan revealed slightly en­larged ventricles and extensive low density in both hemispheres except periventricular areas, basal ganglia and right occipital lobe. Contrast studies of CT scan showed multiple high density areas in both hemis­pheres. Cerebral angiography revealed no .obstructive lesions. A brain scintigram with 99m TC-pyrophospha­te showed marked uptake of RI activity in accordance with multiple enhanced areas of CT scan, while no ab­normal findings were obtained by brain scan with 99m TC-pertechnetate. The multiple lesions gradually disappeared and similar fmdings appeared in another areas with CT scan and 99m TC-pyrophosphate brain scintigram. These findings strongly suggested multiple infarction due to status epilepticus. Heart disease or other causes of infarction was not recognized in this case. It might be concluded that the change of cerebral blood circulation occurred because of anoxia or ischemia under status epilepticus.

228 Brain & Development, Vol 1, No 3,1979

B-4

Overnight Polygraphic Studies on the Spasms of Age-Dependent Epilepsy in Infancy Hideki Hori(a, MD, Eiichi Hoashi, MD, Yuko Okuyama, MD, Koumei Kumagai, MD, Shiro Endo, MD, Department of Pediatrics, Jikei University School of Medicine, Tokyo (HH, EH, YO, KK), Division of' Psychophysiology, Psychiatric Research Institute of' Tokyo, Tokyo (SE)

Age-dependent epilepsy in infancy is composed of in­fantile spasms and early infantile epileptic encephalo­pathy with suppression-burst (EIEE). In these studies, the clinical seizures and seizure activities of this epi­lepsy during wakefulness and sleep, especially in dif­feren t sleep stages were examined electrophysiological­ly by means of overnight sleep polygraphy.

The subjects were two cases of infantile spasms (A, B) and one case of EIEE. The polygraphic record­ings were done for each subject on the first night. The second overnight sleep polygraphy was conducted when the clinical seizures in case B and the case of EIEE increased.

The spasms in the cases of infantile spasms oc­curred shortly after awakening. In case A, the same EEG finding and eye movement as in the clinical sei­zures were observed during REM sleep without any apparent clinical seizures. The ictal EEG in case A showed multiple spike with slow wave in all areas. Though the ictal EEG in case B revealed a negligible amount of seizure activities in the first record, delta wave resembling high voltage sharp wave in all areas in the second one. In both case A and B, eye movements and increment of spasmodic muscle action potentials were observed during the attacks. The spasms in the case of EIEE occurred more frequently during NREM sleep than during wakefulness and REM sleep. The ictal EEG exhibited bursts of high voltage slow waves or spikes with high voltage slow waves. The EEG before and after spasms showed flattening of the trace. During the attacks, complex eye movements and increment of spasmodic muscle action potentials were observed. In addition, the case of EIEE showed longer duration and interval of spasms with irregularity than the cases of infantile spasms.

B-5

A Case Report of Epilepsia Partialis Continua with the Acceleration of Spino-Bulbo-Spinal Reflex Hiroko .Koto, MD, Toshiko Haruki, MD, Keiichi Morooka, MD,Muneo Shimamura, MD, Department of Pediatrics, Saiiama Medical School, Saitama (HK, TH, KM), Metropolitan Institute of Neuroscience, Tokyo (MS)

A 13-year-old boy was admitted to Saitama Medical School for continuous abnormal movement of upper abdominal muscle. He had a tonic-clonic convulsion which lasted more than 50 minutes at the age of 10 years. Since that time he never had any neurological abnormalities until 13 years of age.

On examination his consciousness was clear. His abnormal movement was hiccup-like, myoclonic twitching of abdominal muscle. The twitching in­creased by muscle stretch, visual or auditory stimuli, and disappeared during sleep. The EEG showed a normal pattern of alpha waves, no slow waves or sei­zure discharges. The CAG, PEG, brain scanning, CT scanning and spinal fluid showed normal findings. Because of the increased twitching by sensory stimuli, we suspected that he might have acceleration of the spino-bulbo-spinal (SBS) reflex. Electric pulse stimula­tion was applied to the knee and shoulder. Surface EMG was recorded from m. recti abdominalis. The latency recorded from the abdominal muscle by sti­mulating the shoulder was shorter than by stimulating the knee. The twitching of abdominal muscle induced by electric stimuli showed the same pattern as observ­ed at the time of seizure. Therefore, we concluded that this seizure was related to the acceleration of the SBS reflex.

He was given phenobarbital, diphenylhydantoin, nitrazepam, and diazepam, none of which were effec­tive. Clonazepam was effective only for 10 days. Eleven months later myoclonic seizure disappeared completely.

Epilepsia partialis continua is a relatively uncom­mon disease in children. In our patient it is interesting that the acceleration of the SBS reflex was demonst­rated electrophysiologically.

B-6

CT in Partial (Focal Motor Seizures) and Uni­lateral Epileptic Seizures: The Study on Etio­logy, Clinical Pictwes and EEG Takehiko Okuno, MD, Makoto Doi, MD, Yukuo Konishi, MD, Masatoshi Ito, MD, Yuriko Yamori, MD, Yoshihisa Nakano, MD, Hiroatsu Hojo, MD, Depart· ment of Pediatrics (TO, MD, YK, MI, YT), and Radio­logy (YN), Kyoto University, Kyoto, Clinic of Pediat­ric Neurology, Shizuoka Children's Hospital, Shizuoka (HH)

We report here in 67 cases of patients having partial (focal motor seizures) and unilateral epileptic seizures with special reference to CT scan. Such patients were encountered during the years 1976-77 in the Depart­ment of Pediatrics of Kyoto University Hospital.

There were 10 cases of partial seizures (14.9%), 45 cases of unilateral tonic-clonic, tonic or clonic seizures (67.2%), and 12 cases of unilateral massive myoclonic seizures 07.9%); six cases of infantile spasms and six cases of Lennox syndrome. . Pathological CTs were found in 49 cases (73.1 %).

CT showed asymmetrical dilatation of lateral ventri­cles in the contralateral side of seizures in 38 cases (56.7%). Localized lucency was found in 12 cases 07.9%), diffuse low density in cerebral hemisphere in eight cases 01.9%) and cerebral hemiatrophy in 23 cases (34.3%).

Thirty-two caSes were diagnosed with the help of CT; 12 cases of porencephaly, 12 cases with localized lucency due to intracranial bleeding or cerebral infarc­tion, two cases of arachnoid cyst, one case of hydroce­phalus, one case of unilateral cerebral hypoplasia, one case of brain tumor and six cases with acute encepha­lopathy or encephalitis. Nine cases 03.4%) were sus­pected of having perinatal hypoxic brain damage. Etio­logy was unknown in 26 cases (38.8%).

Cerebral palsy and acquired hemiplegia were assoc­iated in 37 cases (55.2%). The side of seizures was much more in the right than the left. The correlation between the side of seizures and mentality was poor.

Focal abnormalities on CT were found in 43 cases (64.2%). We analyzed EEG abnormalities with focal abnormalities on CT. Three cases showed no laterality on EEG. EEG abnormalities were found on the ipsi­lateral side of CT abnormalities in 25 caseS and on the contralateral side of CT abnormalities in 15 cases.

Brain & DeVelopment, Vol 1 , No 3, 1979 229

B-7

Blood Level of PB and PB-Na after a Single Intramuscular Dose Yoshiaki Hirata, MD, Masao Nakano, MD, Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu

Children between the ages of 5 months and 5 years were admitted to the hospital for status epilepticus, meningitis or intussusception were studied. PB or PB­Na was given intramuscularly to prevent the recurren­ce of seizure following intravenous diazepam for the patients with status epilepticus and also for sedation for other patients.

The dose of PB or PB-Na was 10 mg/kg for the pa­tients less than 10 kg and 100 mg for the patients more than 10 kg body weight.

The maximal blood level was reached between 2 and 4 hours in the PB group and between 15 and 30 minutes in the PB-Na group. The blood level at 24 hours after the injection was significantly higher in the PB group than PB-Na group. The peak concentration in ,ug/ml) was approximately 1.42 ± 0.12 the dose of PB (in mg/kg) and 1.39 ± 0.3 the dose of PB-Na (in mg/kg). The blood levels higher than 16 ,ug/ml which has been known as the critical level to prevent the re­currence of febrile convulsion was obtained in only two cases. So probably to obtain a level higher than l6,ug/ml, more than 10 mg/kg of intramuscular PB may be necessary.

There was no recurrence of seizure in the four pa­tients with status epilepticus who were given intra­muscular PB following the intravenous diazepam.

230 Brain & Development, Vol 1, No 3, 1979

B-8

Angiographic Studies of Porencephaly Yukikatsu Ochiai, MD, Yoshito Hirayama, MD, Takeshi Mori, MD, Kihon Shin, MD, Kihei Maekawa, MD, Saitama Health Center of Children, Saitama (YO, YH, TM), likei University School of Medicine, Tokyo (KS,KM)

Porencephaly is circumscribed hemispheric defects that have occurred in utero or before the adult fea­tures of the hemisphere are fully developed and is as­sociated with altering cortical architecture.

Yakovlev proposed the term schizencephaly for congenital hemispheric defects resulting from focal aplasia of the hemispheric walls, in contrast to ence­phalociastic porencephalies that result from distur­bance. However, Friede speculated that the most logi­cal interpretation of the origin of the porencephalic lesions was their attribution to fetal circulatory dis­turbances.

This paper describes three cases of porencephaly from the point of view of findings of p,neumoence­phalography or computed tomography.

Cerebral angiography was performed on them and the findings were as follows: I. The cerebral circulation was markedly slow. 2. Multiple defects and multiple narrowings were seen

in branches of anterior, middle and posterior cer­ebral arteries.

3. Two of the three cases had abnormalities of the sinus system. These findings suggested that a circulatory origin

of porencephalic lesions is the most logical inter­pretation.

B-9

Report of a Case of Noonan Syndrome with Cerebellar Hemorrhage Shiro Kobayashi, MD, Toshiro Shimura, MD, Kenji Ueda, MD, Kyoichi Murayama, MD, Shozo Nakazawa, MD, Department of Neurosurgery, Nippon Medical School, Tokyo

Traumatic cerebellar hemorrhage, unaccompanied by subdural or epidural hematoma of the posterior fossa is very rare. Wright reported six intracerebellar hema­tomas among 17 posterior fossa hematomas over 10 years period. The number appears to be unusually high when compared to other series. We will report a case of the Noonan syndrome with traumatic cerebellar hemorrhage diagnosed by computerized tomography (CT) scan.

On July 22, 1977, a 7-year-old girl who had the Noonan syndrome which showed Turner stigmata (hypertelorism, ptosis, low set ears, webbed neck, cubitus valgus, etc, but chromosome is normal) fell from a bed (1.5 m high) and struck the occipital region of her head. She was not unconscious. She complained of nausea and vomiting. These symptoms continued for two weeks.

On Aug 21, 1977, her consciousness level was down and anisocoria (Lt > R t) and R t hemiparesis appeared. Lt carotid angiography showed remarkable unrolling of the anterior cerebral artery, but it did not show any mass signs on the supra-tentorial area. After ventricle drainage, the consciousness level recovered. However, neck stiffness and cerebellar symptoms such as nystagmus, positive finger to nose test, adiadocho­kinesis, flaccidity of deep reflex, hypotone of muscle appeared.

On Aug 25, 1977, CT scan showed a high density area in the cerebellar region at the back of the 4th ventricle. However, vertebral angiography showed no abnormal findings. She was treated conservatively for 2 months.

At discharge on Nov 9, 1977, she had only mini­mal cerebellar signs.

The difficulties in diagnosis of traumatic posterior fossa hematoma have been emphasized by several authors.

We believe that CT scan has a very important di­agnostic value for such cases with posterior fossa hematoma.

B-I0

A Case of Partial Deletion llq (23) Syndrome with Overlapping Fingers and Multiple Anomalies Kumiko Oikawa, MD, Seiji Sakai, MD, Tsugutoshi Aoki, MD, Masao Sasaki, MD, Department of Pediat­rics, Toho University School of Medicine, Tokyo (KO, SS, TA), Tokyo Medical and Dental College, Tokyo (MS)

New techniques have made possible the rapid identifi­cation of new chromosomal syndrome. A partial dele­tion, llq, has been found in seventeen patients. To our knowledge this is the second case in Japan. A child with multiple congenital anomalies and an anomaly of megakaryocytes was found to have a partial deletion of the long arm of chromosome No 11.

Case Report YM, a 2-month-old boy is the second child of healthy unrelated parents. The pregnancy was uncomplicated and an uneventful delivery occurred at 41 weeks. At that time his weight was 3,370 g and his height 49 cm. He was noted at birth to have overlapping fingers. On physical examination at 2 months of age, he was found to have nystagmus verticalis, a bleeding tend­ency and multiple physical defects. The cranium was wide from side to side and occipitally flat. The hair line was low posteriorly. He had an unusual facies with hypertelorism, a right ptosis, a saddled nose, a thin upper lip, a narrow high arched palate, low set de­formed ears and microretrognathia. There was also a short neck, a congenital stridor, an umbilical hernia, and a right inguinal hernia. Bilateral overlapping fingers-, bilateral thumbs proximally implanted and aplasia of the distal phalanx of the bilateral third fingers were present. Bilateral toes were proximally implanted. There was anemia and thrombocytepenia in a complete blood count.

The bone marrow showed an anomaly of mega­karyocytes. Chromosome analysis with G-banding revealed a 46XY del (11) (q23) karyotype. The parents had normal karyotypes. There have been 17 publications about partial deletion of the long arm of chromosome 11. Growth and mental retardation were found in all cases. Hypertelorism, a short nose, a thin upper lip, microretrognathia, low set malformed ears, were found in many cases. But scaphocephaly, epican­thus and cardiac defects were not found in this case. No other case has an anomaly of megakaryocytes.

Brain & Development, Vol 1, No 3, 1979 231

B-ll

Early Clinical Features of Tuberous Sclerosis Yukuo Konishi, MD, Masatoshi Ito, MD, Takehiko Okuno, MD, Teizo Tomisawa, MD, Akinori Kondo, MD, Department of Pediatrics, Kyoto University Medical School and Hospital, Kyoto (YK, MI, TO), Department of Pediatrics (TT), and Neurosurgery (AK), Fukui Red Cross Hospital, Fukui

Early clinical manifestations and radiographic features of tuberous sclerosis were studied in 18 consecutive patients encountered in the past two years, including two patients harboring an associated intraventricular tumor (giant-cell astrocytoma).

Adenoma sebaceum was present in 11 patients (61%), and depigmented naevi in 13 patients (72%). The age at which the skin lesions were first noted is not necessarily certain, but the depigmented naevi seemed to have become manifest earlier than the adenoma sebaceum.

Seventeen patients (95%) had seizures. In most of them, seizures first occurred within one year after birth. Infantile spasms (Blitz-Nick-Salaam-Kriimpfe) were the most common among the various types of seizures, occurring in 11 patients (61%) within one month to one year after birth.

Periventricular calcifications were seen in all patients on CT. Most of them were found along the border of the body, trigone and the frontal horn of the lateral ventricle near the foramen of Monro.

In four patients, calcification was seen within the cerebral parenchyma.

Brain tumors were found in two patients. One patient was a girl aged 7 years, complaining of occa­sional headaches and vomiting. She had suffered from sporadic epileptic seizures for seven years.

CT scan revealed a slightly dense in traven tricular mass occupying the anterior third ventricle and en­croaching on the foramen of Monro. The tumor showed a marked enhancement following intravenous administration of iodinated contrast medium. Histolo­gic diagnosis was a giant-cell astrocytoma.

The second patient was a man aged 17, complain­ing of headaches of two weeks' duration. He had had sporadic seizures. Neurologic examination was un­revealing. CT scan revealed a small, enhancing tumor within -the frontal horn of the left lateral ventricle. Histologic diagnosis was a giant-cell astrocytoma.

232 Brain & Development, Vol 1, No 3, 1979

B-12

An Autopsy Case of an Hypotonic Child As­sociated with Opsoclonus and Severe Mental Retardation Tokihiko Sekiguchi, MD, Noboru Goto, MD, Shigeru Saotome, MD, Ashikaga National Hospital, Ashikaga (TS), Department of Anatomy, Nihon University School of Medicine, Tokyo (NG), Department of Pathology, Dokkyo Medical School, Tochigi (SS)

A 6-year-old girl who had marked hypotonia, opso­clonus and severe mental retardation, was studied clinically and neuropathologically. At the age of 6 years, she was unable to walk. She moved the upper extremities well, but muscular tone was diminished.

However, extensibility was almost normal. Her breathing was abnormally rapid, and periods of hy­perpnea and apnea were recognized when awake. Abnormal, conjugate, and rapid eye movements were frequently seen, it was not nystagmus or flutter-like oscillation. We thought these eye movements were just opsoclonus.

At autopsy, agenesis of the vermis was observed in the cerebellum and the kidneys showed polycystic changes. There was no malformation of the cerebral or cerebellar hemispheres, but displacement and dysplasia of the pyramidal tract in the brain stem was observed.

Complete agenesis of the vermis in the cerebellum has been reported for seven cases in previous litera­ture. Especially, Joubert et al described agenesis of the cerebellar vermis associated with episodic hyperpnea, abnormal eye movements, ataxia, and developmental retardation.

In the present case, agenesis of the vermis and clin­ical findings were similarly noticed. From the litera­ture, it appears that agenesis of the vermis in itself is asymptomatic. But, in our case, it was associated with hypotonia, opsoclonus, abnormal breathing, and mental retardation.

B-13

A Case of Adrenoleukodystrophy: Serial Findings of Electrophysiological Studies and Computed Tomography Hiroshi Ushijima, MD, Toshiaki Abe, MD, Kimitaka Kaga, MD, Department of Pediatrics (HU, TA) and Otolaryngology (KK), Teikyo University School of Medicine, Tokyo

The study of the morphological and biochemical as­pects of adrenoleukodystrophy (ALD) is fairly ad­vanced. We recently examined a patient suffering from ALD diagnosed by the analysis of fatty acid composi­tions of lipids in the brain, the morphological findings in the brain and adrenal gland, and the clinical course.

Serial examinations by electroencephalography (EEG), auditory evoked response (AER), auditory brain stem response (ABR), and computed tomogra­phy (CT) revealed horizontal and vertical progression of the lesion of this disease. CT also showed bilateral arched high density areas in the parieto-occipital sub­cortex.

Case Report An 8-year-old boy had been well until he was 5 years old, when he suffered from measles. One month there­after, he was noted to have external strabismus of the right eye. Since then, bilateral visual and auditory acuities were found to be markedly decreased. One year later, he was admitted to a hospital with a high grade of fever and diarrhea, followed by gait distur­bance and dysarthria. Soon after he was referred to our hospital.

Physical examinations showed hyperreflexia and some pathological reflexes. Superficial reflex was not found. Pathological pigmentation was not found. Sen­sory response was normal. His consciousness was al­most alert.

He was unable to walk due to spastic paralysis and six months after his admission, he was bedridden with a decorticate posture. Swallowing was gradually im­paired, the high grade of fever continued and yawn appeared. After remittent apnea, he died.

Routine laboratory tests were normal except for transient deteriorations of liver function tests. The anti-measles antibody titer and immunoglobulin levels were not elevated in both serum and CSF. The serum cortisol level was within normal limits in spite of the mild elevation of serum ACTH level (172 pg/ml). De­myelinating antibody was positive. The Mantoux reac­tion became negative. Metabolic screenings for serum and urine were normal.

Electrophysiological Examination All EEG records were taken in the light sleep state. On admission high voltage waves with spindle waves

were seen. At last low voltage waves became dominant with /3-waves and spikes in the left centroparietal re­gion. (The etiology of this J3-wave was not clear, but this phenomenon seemed to be the same as seen in Alzheimer disease). AER changed from normal pattern to no response soon. ABR was normal at the early stage of the illness, then changed from five compo­nents to only early two waves. At the terminal stage, wave I alone appeared. On EEG, the decrease of voltage appeared at the occipital region and extended in to the frontal region.

CT Scan and Other Roentgenological Examinations At the early stage of the illness, abnormal findings by CT scan were scarcely noticed. And later, by CT tech­niques on coronal and orbito-meatal sections, bilateral arched high density areas were seen in the parieto-occi­pital subcortex. Paraventricular low density areas were apparent. Enlarged ventricles and widened sulci were noted. Symmetrical high density areas showed subse­quent forward and vertical (up and down) migrations.

Scintillation studies were abnormal because in­creased uptakes of radionuclides covered from the central region to the frontal region.

Biochemical Analysis Fatty acid composition of lipids in his brain was found to contain substantial proportions of fatty acids longer than C22. This result coincided with the biochemical features of ALD.

Pathological Analysis Complete demyelination of white matter and abnor­mal hypermyelination of gray matter in the brain were seen. Metachromasia and calcification in the white matter were seen. The swollen cells of the adrenal cortex were observed.

Comment A case of ALD was diagnosed by clinical and fatty acids analysis. Electrophysiological, CT scan and scin­tillation studies revealed subsequent forward and vertical migration of the lesion. By CT scan, bilateral arched high density areas were noticed in the parieto­occipital subcortex. These findings matched the calci­fication of the white matter revealed by the pathologi­cal examination. Although anti-measles antibody was not elevated, demyelinating antibody was positive. The participation of some immunological changes was inferred in this ALD patient.

We are thankful to Dr Yonezawa who examined demyelinating antibody, to Dr Igarashi who examined the fatty acids, and to Dr Tokoro who examined the histopathology.

Brain & Development, Vall, No 3,1979 233

B-14

Infantile Neuroaxonal Dystrophy Diagnosed by Peripheral Nerve Biopsy Hiroko Ogata, MD, Akihisa Mitsudome, MD, Michiya Ohta, MD, Department of Pediatrics, FaCUlty of Medi­cine, Fukuoka University, Fukuoka (HO, AM), De­partment of Neurology, Neurological Institute, Facul­ty of Medicine, Kyushu University, Fukuoka (MO)

Infantile neuroaxonal dystrophy ONAD) is a disease in infancy and childhood which is frequently familial. Pa­tho logically, the disease is characterized by the pre­sence of abnormal axons, spheroids, made up of an ac­cumulation of various organelles in the central and peripheral nervous systems.

Confirmed diagnosis of this disease had been well established by brain biopsy. Peripheral nerve biopsy, however, was also considered to be another helpful means.

In this paper we present an example of INAD with the characteristic light- and electron-microscopic fea­tures of the sural nerve, and with the characteristic clinical findings.

The patient was a girl whose parents were not con­sanguineous, She had an uncomplicated gestation and normal delivery. She seemed normal at birth and her development continued to be normal until the age of 1 year 7 months, and then she showed mental and motor deterioration.

When admitted, she was 2 years old. She was lying quietly and wasn't able to walk, to sit or to hold her head up. She had horizontal nystagmus. Funduscopic examination didn't show optic atrophy then but now (3 years old) shows optic atrophy.

Upper extremity reflexes were normal and lower extremity reflexes were hyperactive. The Babinski-sign was positive bilaterally.

Serum glutamic oxaloacetic transaminase (GOT) and lactic dehydrogenase (LDH) were elevated. Cere­brospinal fluid (CSF) showed no pleocytosis and no protein increase. CSF-GOT and -LDH were elevated. Electromyography showed a normal pattern and motor nerve conduction velocity was normal.

The electroencephalogram was abnormal. Electron micrographs of the sural nerve showed the ballooned axons. Its cytoplasmic organelles were strikingly abnormal and most commonly composed of stacked membranous structures arranged randomly.

234 Brain & Development, Vol 1, No 3,1979

B-15

Hypsarrhythmia-Like-EEG Correspondence with the Callosal Body in Globoid Cell Leuko­dystrophy Goyo Koya, MD, Yukinao Takebe, MD, Department of Pathology, Institute of Cerebrovascular Diseases (GK) and Pediatrics (YT), University of Hirosaki School of Medicine, Hirosaki

It is difficult physiologically to demonstrate a func­tion which is concerned primarily with each hemis­phere and callosal body in the cerebrum, but is anatomically clear to be an intermediate body of the cerebral hemispheres. We have pointed out that a le­sion on the ventricular surface of the callosal body and subcallosum is formed in a case of infantile spas­ms in early life and is also seen in other lesions which are frontal lobe atropny of the cerebrum, lobar sclero­sis and involvement of the brain stem's tegmentum.

However, we have frequently met a hypsarrhyth­mia-like-EEG in a stage of globoid cell leukodystrophy in the newborn, but the EEG is not critically similar to hypsarrhythmia. Pathological findings of globoid cell leukodystrophy in the newborn consist of diffuse sclerosis in the white matter glove. Nobody has point­ed out softening induced by proliferated globoid cells in the intermediate zone of the callosal body, but in our case it can be demonstrated. We suggest that the lesion of the callosal body is probably the most impor­tant pathological findings to show a hypsarrhythmia­like-EEG occurring in some of the brain damage.

B-16

Serial Computed Tomography in Menkes' Kinky Hair Syndrome Hitoshi Suzuki, MD, Kiyoshi Hashimoto, MD, Yutaka Ueda, MD, Kazuyoshi Honda, MD, Tsugutoshi Aoki, MD, Department of Pediatrics (HS, KH, YU), and Radiology (KH), Nippon Medical School, Tokyo, Department of Pediatrics, Toho University, Faculty of Medicine, Tokyo (TA)

Menkes' Kinky Hair Syndrome is an X-linked reces­sively inherited copper deficiency, which is character­ized by major motor seizures, abnormally twisting hair, hypothermia, abnormally tortuous arteries and early death. The purpose of this report is to present a serial computed tomography (CT) in Menkes' Kinky Hair Syndrome.

At the age of 3 months, a boy was admitted to this hospital because of frequent right hemiconvulsions.

On physical examination, he had brachycephalus, straight but sparse hair, generalized seborrheic der­matitis, apathetic face and hypopigmented skin. The electroencephalogram showed diffuse slow waves in the left hemisphere. Radiological skeletal survey showed spurring of the ulna. The carotid angiogram showed tortuousity of the carotid artery. The cere­brospinal fluid revealed marked xanthochromia. The CT findings showed a small oval shape low density area in the left temporoparietal region. Other than microcytic hypochromic anemia no abnormal data were noticed at that time. Response to anticonvulsant therapy was not observed for a month. One month after admission, kinking of the hair was noticed. The laboratory data examined at that time were as follows. Serum-copper: 5 mg/dl, erythrocyto-copper: 72 g/100 ml packed red cells, serum-zinc: 248/Lg/dl, serum-ceruloplasmin: 0 mg/dl and erythrocyte-super­oxide dismutase: 0.72 unit/min/l x 1Q7cells. Consequ­ently, diagnosis of Menkes' Kinky Hair syndrome was made and 90/Lg/kg per three days intravenous copper acetate administrations were begun. One week after the beginning of the therapy, serum-copper and serum­ceruloplasmin levels reached 62 mg/dl and 14 mg/dl, respectively. In spite of the copper therapy, neither CT findings nor clinical signs did not improve. The CT findings showed progressive invasion of the low density area, which nearly covered the whole cerebral hemisphere but not the cerebellum. Xanthochromia of the cerebrospinal fluid continued and the psychomo­tor retardation became evident.

At the age of 7 months, the CT findings showed subdural effusion complicated with hemorrhage.

B-17

A Clinical Study of a Case of Sanfillipo Syn­drome Kimiko Tamagawa, MD, Suemi Nakajima, MD, Akiko Terauchi, MD, Hiroyoshi Koide, MD, Osamu Nishiya, MD, Metropolitan Medical Center for the Severely Handicapped, Tokyo (KT, SN), Division of Pediatrics, Metropolitan Fuchu Hospital, Tokyo (AT), Tokyo Metropolitan Institute for Neurosciences (HK), Divi­sion of Pediatrics, Nippon University, Tokyo (ON).

A IS-year-old girl with slight skeletal dysplasia similar to Hurler's syndrome, progressive neurological dis­orders, and increased excretion of mucopolysaccha­rides in the urine is presented.

The parents are cousins. The subject has two af­fected siblings (progressive neurological disorders and dysostosis multiplex) and four healthy siblings. Her early development was only slightly retarded. At about 3 years of age, she started to regress with gait disturbance, tremor, truncal ataxia and seizures. At 12, she was hospitalized with the findings of severe psychomotor deterioration, fine opacities of the lenses, hypoplastic vertebral bones and diffuse atrophy of the brain by CT scan. At the time of admission, organomegaly, cherry-red spot of the macula and mucopolysacchariduria were absent. Lysosomal acid hydrolase activities (a-galactosidase, j3-galactosidase, a-glucosidase, j3-glucuronidase, a-mannosidase, a­

fucosidase, N-acetyl-j3-hexosaminidase, arylsufatase-A and -B, sphingomyelinase) in leucocytes, sera and cultured fibroblasts were all in the normal range. 35 S04-uptake of cultured fibroblasts was also normal. Peculiar coarsely vacuolated cells (originated probablY from lymphocytes) were found in the bone narrow. These inclusions were not stained by PAS-, Sudan black B-, nor· peroxydase-staining, but were stained strongly with acid phosphatase (a m,arker of Iyso­somes) staining. By electron microscopic studies, many vacuoles limited by a unit membrane were noted, supposedly in lymphocytes. These inclusions contained no particular structures such as finger print patterns. These findings seem to suggest some sub­stance accumulating in Iysosomes.

But, by further investigation about the muco­polysaccharides in the urine, we obtained the results that the urinary excretion of uronic acids (mostly composed by heparan sulfates) and sialic oligosaccha­rides markedly incleased, the reason for which is unknown.

So this patient is supposed to belong to Sanfillipo syndrome.

Heparan sulfate-N-sulfamidase (Sanfillipo A cor­recting factor) activities in leucocytes were not re­duced. The activities of aN-acetyl-a-D-glucosamini­dase and a-glucosaminidase have not been investigated.

Supplement The result of this study is different from what was presented at the congress by the reason that we ob­tained a new finding about the excretion of mucopoly­sacchariduria after it was reported at the congress.

Brain & Development, Vol 1, No 3,1979 235

B-18

Glutamine Concentrations in Cerebrospinal Fluids of Nervous Diseases in Childhood Hitoshi Iwasaki, MD, Keiichi Takahashi, MD, Chikaya Otsuka, MD, Department of Pediatrids (Chief" Prof H Kato, MD), Juntendo University School of Medicine, Tokyo

Amino acids metabolism in the brain of nervous dis­eases are neurochemically interesting. Amino acids concentrations in the brain, however, cannot be deter­mined clinically. Amino acids concentrations in cere­brospinal fluid (CSF) can be easily determined by means of amino acid autoanalyzer and may partly reflect amino acids concentrations in brain. Glutamic acid and glutamine as neurotransmitters are notewor­thy amino acids in nervous diseases. Buryakova (1975) described elevations of glutamic acid and glutamine in CSF of acute infectious diseases of the central nervous system. The present study is an attempt to elucidate glutamine concentrations in CSF of children with nervous diseases.

Method Patients in this study consisted of 33 cases of meningi­tis, eight of encephalitis, nine of encephalopathy, two of meningismus, 14 of leukemic meningitis, 14 of epi­lepsy, four of febrile convulsion, five of cerebral palsy, four of hydrocephalus and 10 of miscellaneous dis­eases. Total cases were 113. Glutamine concentrations in CSF were determined by the enzymatic assay of Glasgow.

Results Glutamine concentrations in CSF of bacterial meningi­tis, measles encephalitis, uncontrolled epilepsy were higher than the others. Glutamine concentrations in CSF of E coli meningitis were the highest and those of pneumococcal meningitis were normal. Glutamine concentrations in CSF of bacterial meningitis at the acute stage were higher and decreased as polymorpho­nuclear cells and protein in CSF decreased.

Conclusion Glutamine concentrations in CSF of 113 children with nervous diseases were determined and the following results were obtained: 1. Glutamine concentrations in CSF of children with

bacterial meningitis were higher at the acute stage and decreased in parallel with decline in polymor­phonuclear cells counts and protein concentrations in CSF during regression of the disease.

2. The glutamine concentrations in CSF ofE coli me­ningitis were the highest.

3. The glutamine levels in CSF of uncontrolled epilep­sy were higher than those of con trolled epilep sy.

236 Brain & Development, Vol 1, No 3, 1979

B-19

Rigid Spine Syndrome (A New Clinical Entity) Hitoshi Nagara, MD, Ikuo Goto, MD, Susumu Nagasaka, MD, Y oshigoro Muroiwa, MD, Department of Neurology, Neurological Institute, Faculty of Medi­cine, Kyushu University, Fukuoka

The rigid spine syndrome which is characterized by limitation of neck and trunk flexion, scoliosis, a mild degree of joint contractures and mild diffuse nonprog­ressive weakness, has been reported by Dubowitz et al. There have been five reported cases in the literature. The purpose of this paper is to report the first case of the rigid spine syndrome in Japan.

A 16-year-old Japanese boy was admitted with complaints of weakness of extremities and limitation of movement of the spine. His mother had a normal pregnancy and delivery. He developed normally until the age of 3 years, when he ran much slower than his friends. At 6 years, he noticed limitation of neck and back flexion and weakness of extremities. He did not noticed his symptoms were progressive. There was neither back nor neck pain. His school performance was above average. His paternal grandparents were first cousins and were healthy. His two brothers and other relatives were all in good health.

Examination on admission showed a thin boy with a high-arched palate and mild scoliosis. His neck was hyperextended with limiting neck flexion and lateral rotation, and the spine was rigid with some degree of flexion and extension possible. There were neither spinal percussion tenderness nor spontaneous pain. There was a mild degree of limitation in the extension of joints of both elbows and knees. The sternocleido­mastoids were extremely weak and atrophic. There were mild degrees of weakness and atrophy in all four extremities. X-ray films showed a mild degree of sco­liosis and absence of the normal lumbar and cervical lordosis but no abnormality of the other bones and joints. Laboratory examinations showed no abnormal­ity except for an elevation of the serum creatine phos­phokinase level (102 u/ml:less than 20 u/ml). On elec­tromyography, there were no spontaneous discharges at rest, low amplitude and short duration motor units and full interference patterns. Muscle biopsy speci­mens showed mild to moderate variation in fiber size, a mild increase in endomysial and perimysial connec­tive tissues and occasionally central nuclei in both type 1 and 2 fibers seen. Electron microscopic exami­nation of biopsied muscles showed no abnormality as far as we examined.

Our case and five previously described cases have strikingly similar clinical pictures, although muscle biopsy findings are different. Therefore, this syndrome seems to be a distinct clinical entity characterized by nonprogressive muscle weakness, limitation of flexion of the neck and spine, scoliosis and joint contracture.

B-20

An Autopsy Case of Congenital Muscular Dys­trophy (Fukuyama Type) Masahiro Nakayama, MD, Yoshiro Sasaki, MD, Kazuaki Misugi, MD, Nobuko Misugi, MD, Hiroko Iwamoto, MD, Department of Pathology (MN, YS, KM), Orthopedics (NM) and Pediatric Neurology (HI), Kanagawa Children's Medical Center, Yokohama

This is a case of a 14-year-old boy with congenital muscular dystrophy (Fukuyama type). Family his­tory was noncontributory. Development was severely retarded. Cardinal signs were d(:formity and contrac­ture of extremities and muscular atrophy including facial muscles. Laboratory data revealed a high level of creatine phosphokinase in the serum. High fever de­veloped and was prolonged for 10 days after tooth extraction at 14 years old. He succumbed to cardiac failure.

Neuropathological findings were as follows (brain weight, 1,260 g): 1. Cerebrum- a) cortex; micropolygyria (common

type), especially in frontal lobe, b) basal ganglia, not remarkable, c) internal capsule and white matter; not remarkable, d) hippocampus; slight irregularity of architecture, e) ventricles; dilatation of lateral ventricles.

2. Cerebellum -a) cortex: micropolygyria; lobulus semilunalis superior (remarkable), dendate nucleus (not remarkable).

3. Brain stem (medulla oblongata) -a) migration dis­order of arcuate nucleus, suspected, b) abnormal pyramidal tract at medulla oblongata, c) irregular­ity of transverse fibers.

4. Spinal cord; not remarkable.

Micropolygyria was observed in the cerebrum and cerebellum. Micropolygyria of the cerebrum was not the four-layered type, but completely disorganized (common type). Gyri of the cerebellum showed sym­metrical micropolygyria in the superior semilunar lobule.

The most prominent finding was the abnormal position of the pyramidal tract which was found in the median lemniscus at the level of the medulla oblonga­ta. The regular position was occupied by increased nerve cells of the arcuate nucleus.

Gliosis or other inflammatory evidence was com­pletely missing in the region of the arcuate nucleus. Most of the muscles were replaced by fibrous connec­tive tissue and fatty tissue. Diaphragm, intercostalis, and rectus abdominis were relatively well preserved, which revealed endoperimysial fibrosis, internal nuclei, and irregularity of fiber size. Adenosine triphosphatase staining showed type-I fiber predominance. Nuclear chain was identified in the diaphragm and intercostal muscle.

Severe panperitonitis due to perforation of a duodenal ulcer and bronchopneumonia were the direct causes of death.

B-21

Histological and Histochemical Study on Biop­sied Muscle from a Case with Ullrich's Disease (Congenital Atonic-Sclerotic Muscular Dystro­phy) Yukiharu Une, MD, Ikuya Nonaka, MD, Toshio Nakashima, MD, Division of Child Neurology, Brain Research Institute, Tottori University School of Med­icine, Yonago (Yu. IN), National Sanatorium Matsue Hospital, Matsue (TN)

Ullrich in 1930 first reported two cases of an unusual congenital myopathy characterized clinically by marked hyperflexibility of distal joints and contrac­ture of proximal joints since birth, generalized muscle wasting and weakness, good intellectual development and no noticeable progression but with improvement of motility. Although around 10 additional cases with similar clinical features have been reported and labeled as Ullrich-type congenital mu~cular dystrophy or Ullrich's disease, no detailed histological or histo­chemical examinations on biopsied muscles are so far available.

The muscle biopsy from a lS-year-old boy with similar clinical characteristics of Ullrich's disease demonstrated advanced myopathic changes; marked variation in fiber size, peri- as well as endomysial fibrosis, adipose tissue infiltration, and increased number of fibers with centralized nuclei. However, neither apparent necrotizing nor regenerating fibers were observed on routine histological examination. Except for scattered moth-eaten fibers on oxidative enzyme staining, no structural abnormalities in the muscle fibers were recognized with various histochem­ical methods.

The frequency distribution of muscle fiber types on ATPase staining was as follows; type I fibers 71.5%, IIA 5.2%, lIB 2.3% and IIC 21%. Occasional "fiber-type grouping" consisting of type I fibers may reflect the presence of a certain neurogenic factor ex­erting on the disease process.

Brain & Development, Vol 1, No 3,1979 237

B-22

Case Report: Two Siblings and Their Mother with Myotonic Dystrophy Shozo Nakano, MD, Hiroatsu Hojo, MD, Yasuhiro Mochizuki, MD, Department of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka (SN, HH), Department of Pediatrics, Shizuoka Central Prefec­tural Hospital, Shizuoka (YM)

Case 1, a 14-year-old boy, was noticed to walk clumsi­ly at 4 years of age. He was mentally retarded and clinical myotonia was found. Muscle wasting of the face and upper limbs was noticed. The serum CPK level was 615 lU/1 (normal value; 95 lU/1 below) and IgG level was 528 mg/dl. Electormyography revealed myotonic discharge. The motor nerve conduction ve­locity of the median nerve was decreased and the dis­tal latency period of the posterior tibial nerve was prolonged. Ophthalmoscopic examination demonst­rated cataract. Cranial computed tomography revealed moderate grade cortical atrophy. Muscle biopsy re­vealed a slight variation in fiber size and formation of

Table 1 Nerve Conduction Studies

long chains of nuclei. Case 2, a 10-year-old girl, showed similar clinical

features. Mental retardation, clinical myotonia, muscle wasting of the face and upper limbs, and cataract were noticed. The serum CPK level was 220 lU/1 and IgG level was 517 mg/dl. Electromyography revealed myo­tonic discharge. Cranial computed tomography reveal­ed moderate grade cortical atrophy.

Case 3, a 37-year-old woman, was healthy in her childhood and adolescence. She married at the age of 22 and was in good health until 27 years old, when she noticed marked body weight loss after delivery. Her grip became weaker at 30 years of age. She was not mentally retarded and clinical myotonia was found. Marked muscle wasting of the face and upper limbs was noticed. Cataract was not found. The serum CPk level was 247 lU/1 and IgG level was 1,243 mg/dl. Electromyography revealed myotonic discharge. Cra­nial computed tomography revealed moderate grade cortical atrophy.

Brother Sister Mother

Ulnar nerve MCV 43.0 m/s 60.3 m/s 60.9 m/s DLP 3.3 msec 2.1 msec 2.8 msec

Median nerve MCV 40.5 m/s 65.0 mls 57.6 m/s DLP 4.8 msec 3.2 msec 2.9 msec

Peroneal nerve MCV 44.2 mls 48.4 mls 50.9 mls DLP 4.5 msec 3.7 msec 5.5 msec

Posterior tibial nerve MCV 54.4 m/s 48.7 m/s 48.2 mls DLP 6.8 msec 5.2 msec 5.0 msec

Median nerve SCV 58.3 m/s 67.4 m/s 66.4 mls AP 25 JJ.V 60 JJ.V 20 JJ.V

Sural nerve SCV 50.0 m/s 58.7 mls AP 10 JJ.V 10 JJ.V

238 Brain & Development, Vol 1, No 3,1979

B-23

Chronic Neurogenic Muscular Atrophy Inher­ited for Three Generations Involving Only Females Noriaki Shinomiya, MD, Tsugutoshi Aoki, MD, Yoshiko Nomura, MD, Masaya Segawa, MD, Depart­ment of Pediatrics, Toho University School of Medi­cine, Tokyo (NS, TA), Segawa Neurological Clinic for Children, Tokyo (YN, MS)

This is a report of a family with chronic neurogenic atrophy dominantly inherited for three generations involving only females. The pedigree is shown in Fig 1; la, Ib, IIa, lIb and IlIb; they were examined person­ally. Ib, lIb and lIb were affected; lIb most severely and Ib most mildly. The onset age tended to be lower in younger generations.

In lIb and IIlb remarkable weakness was observed with proximal dominancy. Muscle atrophy was ob­served proximally, but pseudohypertrophy in thigh and calf muscles. The sternocleidomastoid and focial muscles were well preserved. Most DTRs were absent though observed to be sluggish on TTR. In lIb tremor was observed in the fingers. In Ib only scoliosis and slight weakness and atrophy of thigh muscles were observed. lIb and IIlb could stand up only with assist­ance. S-CPK levels were elevated in IIIb (890 u) and lIb (504 u), but in Ib they were normal.

EMG revealed NMUs with high amplitude and long­er dura tin, and a decreased number of NMUs in cases IB, lIb and IIIb, but normal interference in Ia. MCV and SCV were normal in all. Muscle biopsy was carried out twice in lIb on the quadriceps and the deltoid muscle, revealing a small group of small sized fibers with dense DPNH activity and various sized larger fibers suggesting chronic denervatin processes. In some fibers remarkable accumulation of mitochondrial enzymes, which were revealed as a profound increase in the number of mitochondria in EM, were observed especially in the sub sarcolemmal area.

A new type of hereditary spinal muscular atropny was suspected.

III

II

Fig 1 Pedigree of family T.

B-24

Mass-Neuropediatric Research on "Criteria of Normal Hillh-School Students" from the Neu­rological Viewpoint: A Search for "Strict" but as far as Possible "Simple" Criteria Yukio Mukai, MD, Department of School-Health, Jbaraki University, Mito

The author has already presented "strict" but as far as possible "simple" criteria of normal school children (6-12 years of age) from the neurological viewpoint. In this work, the author tried to establish the same kind of criteria for high-school students (12-18 years of age).

The author has followed, for the sake of conven­ience, his own "criteria of normal high-school students (12-18 years of age) from the neurological view­point." These criteria are made up of four kinds of indices (group IQ, school-results, school-health ex­amination, questionnaire for the parents on the devel­opmental history), hence they are rather complicated. On the other hand, they have the disadvantage of having to use, as an index, data on the school-results, etc, which are difficult for outsiders to obtain.

The purpose of the present study is to prepare more convenient criteria which are, nevertheless, almost as strict as the original criteria described above.

The author utilized, as the index of the criteria of normal students, the "Ibaraki Simplified Motor Func­tion Test for the high-school students (IMF)" and the "Ibaraki Group Bender Gestalt Test for high-school students (BGT)." Both of the two tests have been developed by the author's research group as screening tests for neurological disorders in high-school students. It seems to the au thor that the screening test for neurological disorders in students can be the screening test for "normal students" from the neurological view­point, if only the screening level is shif~ed.

The screening level for "normal students" was placed at the level of 50 percentile of the standardiza­tion population (1,502 cases) of IMF or BGT, respec­tively. In the case of screening the "normal students" according to the above criteria, only 0.1 % of the normal students (screened by IMF) had mental retar­dation, 0.3% had epilepsy. Those having cerebral palsy or minimal brain dysfunction syndrome were not found among the normal students (screened by IMF). The results were almost the same for the "normal students" screened by BGT.

Brain & Development, Vall, No 3, 1979 239

B-25

A Long-Term Follow-Up Study of Neonatal Hyperbilirubinemia with Neurological, Electro­encephalographical and Audiological Evaluation Takahiro Sugita, MD, Kiyoomi Sumi, MD, Hiroshi Shimizu, MD, Takashi Mimaki, MD, liro Abe, MD, Hyakuji Yabuuchi, MD, Kunio Sakai, MD, Toru Takeuchi, MD, Masanori Fujimura, MD, Department of Pediatrics (TS, KS, HS, TM, JA, HY) and Otorhino­laryngology (KS), Osaka University, School of Medi­cine, Osaka, Department of Pediatrics, Y odogawa Christian Hospital, Osaka (TT, MF)

We tried to detect minimal degrees of brain damage produced by hyperbilirubinemia_

Thirty-three children who had total serum bilirubin levels over 26 mg/lOO ml, and received replacement transfusion twice or more during the newborn period, were examined at approximately 7 years of age_ Seven babies showed signs of kernicterus_

Mild cerebral palsy was found in seven children of whom six showed signs of kernicterus. Abnormal electroencephalograms were found in 12 children. Four showed asymmetry of background activity, five showed slow dysrhythmia and three showed spikes. Nine children had sensorineural hearing impairment, associated in two with mental retardation. All the affected children had very high serum bilirubin levels in the newborn period. The average total serum biliru­bin level was 32.1 mg/100 ml in the affected children, and it was significnatly higher than that of non-affect­ed children. The weight and height of these children were within normal limits. Average intelligence quoti­ent of these children was the same as that of the nor­mal population.

Our study suggests that early exchange transfusion were indicated when the serum bilirubin level ex­ceeded 25 mg/lOO ml, to prevent long-term sequelae due to hyperbilirubinemia.

Table 1 A long-term follow-up study of neonatal hyperbilirubinemia

Total serum bilirubin Kernicterus

Neurological EEG abnormality Sensorineural hearing (mg/IOO ml) abnormality impairment

27.0 +* 27.6 +** 29.2 + + 30.0 +*** +t 30.0 +*** +t 30.4 + + +* +tt 31.0 + +* +tt 31.5 + + +** 32.8 +** 34.0 + + +** +t 34.6 + +*** +t 34.6 +*** +t 35.0 +*** +tt 36.6 + + 38.5 + + +tt

Total 7 (21.2%) 7 (21.2%) 12 (36.4%) 9 (27.2%)

* Spike, ** Asymmetry, *** Dysrhythmia, + Mild hearing impairment, ++ Moderate hearing irnpairmen t.

240 Brain & Development, Vall, No 3,1979

B-26

A Case Report of an Acquired Childhood Sen­sory Aphasia with Epileptic Electroencephalo­graphic Discharges and with Exacerbations and Remissions Makiko Kaga, MD, Yoshihiko Mizuno, MD, Masaki Suzuk~ MD, Department of Pediatrics, Tokyo Univer­sity Branch Hospital, Tokyo

Case A.N. was a 7-year-and-8-month-old boy. His language disorder began at the age of 6 year 4 month, when he had the first episode of progressive loss of comprehension. He appeared to become deaf and taciturn. He was inarticulate in his speech. The symp­toms improved after 1 month but the recovery from the sensory aphasia was incomplete.

The same episodes occurred repeatedly with an interval of a few months.

An EEG showed bilateral spike-wave discharges. Though clinical seizures were. not observed, oral ad­ministration of anticonvulsants was begun.

He was admitted to our hospital at the age of 7 year 8 month. Mentality other than language was above normal. Neurological examinations were normal except for mild clumsiness in his behavior. He was euphoric, talkative and had no concern of his handi­caps.

He was unable to follow long sentences and could answer questions only if they were simple. He had literal paraphasia and had some aspects of jargon aphasia.

Pure tone audiometry was normal. Speech audio­metry was mildly abnormal. Epileptic EEG changes were marked especially in the sleep record. Optic fundi, skull X-ray films, cerebrospinal fluid, 99mTc brain scanning, CT-scan and cerebral evoked responses were all normal.

He was diagnosed as a type of epilepsy and anti­convulsant medication was continued.

Comment The etiology of this acquired childhood sensory aphasia with epileptic electroencephalographic dis­charges is unknown, but it is thought to be a poly­etiological syndrome. Because; 1. Clinical manifestations are variable. Some patients

show typical sensory aphasia and others show pure word deafness.

2. Relation to epileptic disorder are variable both in clinical seizures and electroencephalographic activ­ities.

3. Clinical courses are variable. Some show a progres­sive course and others show fluctuations or com­plete recovery. Precise observation is necessary to determine the

etiology of this syndrome. When considering treatment and education of these

children, it is important to differentiate from hearing deficit and get rid of their anosognosia associated with sensory aphasia.

B-27

An Electroencephalographic Study of Autistic Children and Its Relation to Parana tal Abnor­malities Yoshihiko Hoshino, MD, Yuko Yashima, MD, Kyoko /shige, MD, Ryuichi Tachibana, MD, Hisashi Kumashiro, MD, Department of Neuropsychiatry, Fukushima Medical College, Fukushima

For the purpose of investigating organic factors in the etiology of autistic children, an electroencephalo­graphic analysis was done and then its relation to paranatal abnormalities was examined.

The subjects were 41 cases of early infantile autism and 39 cases of autistic oligophrenia. There were 66 males and 14 females. The average age was 6.2 years. The diagnosis of autism followed Kanner's, description. To assist in the diagnosis, the Rimland E-2 Score! was determined in each case. As to EEG examination, sleep activa tion was done in all Cases, bu t EEG record­ings during waking time were taken only in a few cases. The abnormalities in the parana tal history were examined in accordance with the "Risk Factor," which was developed by Vojta, et a1.2

The averages of the Rimland E-2 Score were + 17.7 in autism and -10.1 in autistic oligophrenia. This dif­ference was significant statistically. The results of EEG findings were as follows. The paroxysmal or continu­ous EEG abnormalities were found in 18 cases (44%) of autism and 19 cases (49%) of autistic oligophrenia. The abnormal features consisted mainly of regional and/or generalized spike and/or spike & wave parox­ysms. The localization of EEG abnormalities was differen t from case to case, although they were fre­quent in the frontal and fronto-central areas.

The parana tal abnormalities examined in accord­ance with the :Vojta's Risk Factor were frequent both in autism and autistic oligophrenia. The 29 cases (71%) of autism and 24 cases (62%) of autistic oligo­phrenia showed abnormalities in their paranatal history.

The correlation between EEG findings and para­natal abnormalities was examined. As a result, in cases of autism, the incidence of natal abnormalities such as asphyxia neonatorum and icterus gravis were much more frequent in the abnormal EEG group than in the normal EEG group. In cases of autistic oligophrenia, these tendencies were not found.

References 1. Rimland B: Infantile Autism. Appleton-Century

Croft, New York, 1964. 2. Vojta V: Die cerebralen BewegungsstOrungen in

Siiuglingsalter. Stuttgart, Enke, 1976.

Brain & Development, Vall, No 3, 1979 241

B-28

Febrile Convulsion and IgA Kenji Nihei, MD, Shunichi Nakajima, MD, Atsuko Yamamoto, MD, Emiko Nagayama, MD, Department of Pediatrics, Jichi Medical School, Tochigi (KN, SN), Kanto Teishin Hospital, Tokyo (A Y, EN)

Serum IgA levels are reported often to be low in epi­leptic patients receiving or not receiving anticonvul­sants. However, the relation 'of epilepsy and low levels of IgA is not well understood.

The purpose of this report is to state that serum IgA levels are low in patients with simple febrile con­vulsions or having a history of febrile convulsions who have not received anticonvuisants, and to discuss the rela tion to febrile convulsions and IgA.

We measured the levels of serum immunoglobulins in 57 cases of febrile convulsion, and studied the his­tory of allergic diseases and febrile illness causing convulsions.

Serum IgG and IgM levels of these patients were significantly higher than those of controls in all age groups. In contrast, IgA levels were low compared with the mean levels (Fig 1).

Fifty-one percent of these patients had history of one or more allergic diseases such as eczema, atopic

';! '-~ 2000

c o .~ 1500 .., c OJ ()

§ 1000 U

l:I ~ 500

E 2

Ig-G

. .. . -"-

L --=

OJ If) ~~--r--r--r--r--~-.--~~

7 8 10 (years of age)

B-29

Polygraphic Study During Sleep in Subacute Sclerosing Panencephalitis Y oshihide Iwakawa, MD, Toshihiro Niwa, MD, Masakatsu Ogiso, MD, Teruko Dan, MD, Masaya Segawa, MD, Y oshiko Nomura, MD, Department of Pediatrics, Tokyo Medical and Dental University, Tokyo (YI, TN, MO, TD), Segawa Neurological Clinic for Children, Tokyo (MS, YN)

A 6-year-old girl with SSPE was studied. The diagnosis was established based on elevated gammaglobulin in the CSF and elevated measles antibody titers in the CSF and serum as well as characteristic EEG.

Polygraphic sleep records were performed four times at stage 2 (Jabbour) and once at the 3rd stage.

The following findings were obtained: At stage 2: 1. Stage REM appeared directly after the 3rd sleep

stage.

242 Brain & Development, Vall, No 3,1979

dermatitis, urticaria, or asthma. Almost all attacks of febrile convulsion were caused by febrile illness such as URI, bronchitis, pneumonia, gastroenteritis, and cystitis, in all of which IgA participated as local im­munity.

The evidence suggests that low levels of IgA or the maturation of IgA have an implication in the patho­genesis of febrile convulsions.

c .9 .., ~ .., c OJ ()

C o U

<t

~ E 2 OJ

If)

c .9 .., ~ .., c OJ () C o U

~

E 2 OJ

If)

Ig-A

2. Percent stage REM tended to increase (31%) and REM density also increased according to the prog­ress of illness.

3. Although a polyphasic sleep pattern was observed, slow sleep was well preserved.

4. Gross movements were not prominent in stage I and REM.

:So On the other hand, twitch movements were promi­nent in stage 1 and REM as in normal subjects.

At stage 3: 1. Polymorphous delta activity was continuously ob­

served, thus awake and sleep stages were indistin­guishable by EEG.

2. There was complete absence of REMs and twitch movements. These observations suggested that the cerebrum,

especially the frontal lobe, was diffusely impaired and the brain stem was also involved even in stage 2.

B-30

Chronic Progressive Encephalomyelo-Radicu­loneuropathy with Myoclonic Epilepsy, Ataxia, Hypotonia, Absent DTR, Involuntary Move­ments and Marked Elevation of CSF Protein: An Atypical Case of Spongy Glio-Neuronal Dystrophy? Kiyoshi Hashimoto, MD, Mutsumi Murakami, MD, Yoshiki Saka, MD, Yuh Fukuda, MD, Yoshio Morimatsu, MD, Department of Pediatrics, Nippon Medical School Hospital, Tokyo (KH, MM, YS), Department of Pathology, Nippon Medical School, Tokyo (YF), Division of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Tokyo (YM)

A 2-year-8-month-old female was admitted to our hospital because of left hemiconvulsion with uncon­sciousness. She was the only child of consaguineous parents. The father married his maternal cousin. Otherwise, family history is noncontributory. The pregnancy and delivery as well as the neonatal period were uneventful. Her motor development was slightly delayed.

On admission, frequent episodes of myoclonic twitching on the left side occurred, associated with occasional right side focal seizures. Examination re­vealed generalized hypotonia, absent DTR, and marked elevation of CSF protein (1200 mg/dl). EEG showed 2-3 cps spike and waves predominantly in the right side. Myoclonic twitching was controlled by intravenous injection of Diazepam. She regained her consciousness one week later and three months after the onset she began to walk with left hemiplegia. But myoclonic twitching occurred frequently with or without loss of consciousness in spite of various anti­convulsant medications. Involuntary movements occurred in the right extremities and in the tongue. Motor and mental deterioration developed gradually and the patient was confined to bed at 5 years of age. Neuroradiological examination revealed no vascular abnormality nor mass lesion. Motor nerve conduction velocities were delayed. Marked elevation of CSF pro­tein and absence of DTR continued until her death. Extensive laboratory examinations were normal, in­cluding lysosomal enzymes, demyelinating antibodies, phytanic acid; liver function tests were normal but total cholesterol was elevated. The serum level of glutamine was once increased, but the blood ammonia level was normal. The patient died of pneumonia at the age of 6 year 8 month.

Neuropathological examination revealed severe to moderate spongy degeneration in the cerebral cortex, thalamus, nucleus ruber, and dentate nucleus with neuronal loss and diffuse proliferation of swollen astroglia. The spinal cord showed symmetrical lesions with prominent involvement of the posterior columns and posterior spinocerebellar tracts. Mild degeneration of anterior and posterior nerve roots as well as periph­eral nerves was seen. There was diffuse fibrillary gliosis in the cerebral white matter, thalamus, lateral genicu­late bodies, hilum of the dentate nucleus, superior cerebellar peduncles, and the posterior columns of the spinal cord. The liver showed marked 'fatty metamor-

phosis and mild fibrosis. These clinical and neuropathological features

resemble closely spongy glio-neuronal dystrophy in infancy and childhood. An association of fatty trans­formation of the liver is also reported in some cases. But the neuropathological lesions in this patient were more extensive in distribution than in reported cases, and marked elevation of CSF protein was not de­scribed in other cases reported as spongy glioneuronal dystrophy.

B-31

Reye Syndrome without Initial Hepatic In­volvement /Chiro Yoshida, MD, Makoto Yoshino, MD, Fumio Yamashita, MD, Department of Pediatrics and Child Health, Kurume University Medical Center, Kurume

A 2-year-and-6-month-old girl was admitted to our hospital because of seizure. She was given the diagno­sis of Reye syndrome because of abnormal liver func­tion test and liver pathology. In this patient, in whom the occurrence of liver histology characteristic of the syndrome was confirmed by biopsy, evidence of liver damage judged by serum GOT, GPT and LDH level, was absent when the patient developed encephalo­pathy at the initial stage but it emerged in the later stage. It has been said that neurological signs take place concomitantly with the emergence of evidence of liver damage in most of the cases with Reye syn­drome (Partin, 1975). Since the features of liver in­volvement dominate in this condition, factors derived from liver failure, for example, hyperammonemia (Huttenlocher et ai, 1969; Glasgow et ai, 1972; Shannon et ai, 1975) has been considered to be the major etiology of central nervous involvement, ie, brain edema. But our observation is suggestive of the pathogenesis of encephalopathy not related to liver damage at least in the initial stage in this patient. Thus, it appeared possible that (an) etiologic factor(s) may involve the liver and the brain (and possibly several other systems as well) monistic ally , causing a pathologic process in each organ, although it is very likely that (a) toxic factor(s) produced as a conse­quence of liver damage also may contribute to patho­genesis of the brain disease in Reye syndrome. Recent­Iy, a similar case was reported (Applebaum et ai, 1977).

Brain & Development, Vol 1, No 3,1979 243

B-32

A Case of Polyneuritis by Enterovirus Type 70 Keiichi Kimoto, MD, Y oshihide Nakamura, MD, Toru Momoi, MD, Takao Hirao, MD, Takehiko Okuno, MD, Rokuro Okuda, MD, Department of Pediatrics, Kyoto University, Kyoto

Acute hemorrhagic conjunctivitis by enterovirus type 70 was first observed in 1969 in Africa, and soon spread all over the world. Recently polyneuritis as­sociated with acute hemorrhagic conjunctivitis has been reported in the countries of South East Asia. We recently experienced a case of polyneuritis by entero­virus type 70 in Japan.

A 2-year-old boy was admitted to Kyoto Univer­sity Hospital on June 14, 1977, complaining of gait disturbance and bilateral ptosis. Fever, rhinorrhea and cough started IS days before admission, and papules were seen all over the body 12 days before admission. Bilateral ptosis started three days before admission, and gait disturbance followed.

At the time of admission, congestion of palpebral conjunctiva, eye discharge, ptosis and paralysis of eye movement in all directions were found bilaterally. Anisocoria was noted but the pupils were reactive to light. Gait disturbance by the flaccid paralysis in the lower extremities and diminished knee jerk were noted, and there was hyperesthesia to pain of lower extremities. Laboratory findings showed a rise of IgM. CSF findings were normal in the first few days, but albumino-cytologic dissociation was soon found. EEG, CT scan (brain) and ocular fundus were normal. Tensilon test was negative. Demyelinating antibody was positive. Complement fixation tests for viruses were performed. Sera showed a four-fold rise in CF antibody to enterovirus type 70. The clinical course was progressive. Steroid therapy was started on the fifth hospital day, and a clinical improvement was recognized after five days.

244 Brain & Development, Vall, No 3,1979

B-33

A Case of Suspicious Herpes Simplex Encepha­litis (HSE) with Biphasic Clinical Course and Review of 28 HSE Children from Japanese Literature Yutaka Awaya, MD, Keiko Sakurai, MD, Yu Ishihara, MD, Teikichi Watanabe, MD, Kimitaka Kaga, MD, De­partment of Pediatrics, Tokyo Teishin Hospital, Tokyo (YA, KS, YI, TW), Department of Otolaryn­gology, Teikyo School of Medicine, Tokyo (KK)

A boy aged I year 10 month was admitted to another hospital with a ll-day history of high fever, as-day history of dysphagia and a 3-day history of lethargy on March 7, 1977. Status epilepticus over several hours was seen on the next day. On the third day of hospi­talization, ie the 20th day of illness, clouded conscious­ness began to improve gradually and after that he could sit without support. He was discharged on the 27th day of illness, and was referred to our hospital to be admitted because of persistent dysphagia and irri­tability. Around the 35 th day of illness, he became semicomatous again followed by high fever, convul­sion, and meningeal sign. The semicomatous state lasted for another 2 months.

He was diagnosed as HSE based on clinical manifes­tations and an elevated CF antibody titer for herpes simplex virus (1:256 for serum; 28th day of illness, and 1:32 for CSF; 30th day of illness). CT scanning (76th day of illness) revealed low density at the bitem­poral regions and moderate brain atrophy which were compatible to HSE. Thereafter his consciousness grad­ually improved and on the I 20th day of illness, a smile returned and head control became possible. In spite of intensive rehabilitation, spastic diplegia and mild mental retardation was not improved when he was dis­charged after 7 months of admission.

We reviewed 28 cases of HSE except for neonatal herpes infection in Japanese literatures, the results of which were as follows; 1. Age distribution: six cases between 4-12 months,

five cases between 1-2 years, and so on. Twenty­one cases (75%) were under 3 years of age. This age distribution is almost similar with that of herpetic gingivostomatitis.

2. Convulsion was seen in all cases. 3. Four cases died and 18 cases were left with severe

deficits. The mortality rate was lower than Europ­ean and American reports but the rates of severe sequelae was higher than expected.

B-34

A Case of Congenital Toxoplasmosis with Mid­line Anomalies and Infantile Spasms Kenji Ikota, MD, Hiroko Koto, MD, Atsushi Shibuya, MD, Keiichi Morooka, MD, Ryotaro Tochigi, MD, Kazuko Yokota, MD, Department of Pediatrics, Saitama Medical School, Saitama (KI, HK, AS, KM), 1 -~partment of Pediatrics, Kumagaya General Hospital, J umagaya (RT), Department of Pediatrics, Tokyo Women's Medical School, Tokyo (KY)

This 4-month-old female infant was hospitalized for frequent convulsion. She was born by vacuum ex­traction with a weight of 2,700 gm at 38 weeks of gestation. She was well until three months of age when she developed tonic clonic convulsions more than ten times in a week and was referred to Saitama Medical School.

The physical examination on admission revealed body weight 7.1 kg, clear consciousness with poor attention. No skin eruption, jaundice or lymphadeno­pathy was present. Results of her chest, heart, ab­dominal, and neurological examinations were normal except for negative traction response and head lag. Funduscopic examination showed either retinocho­rioiditis or coloboma retinochorioideae. Laboratory data; CBC normal, urinalysis normal. Immunoglobu­lins, IgG 300 mg/dl, IgM 130 mg/dl and IgA 495 mg/dl. Uritest for metabolic disorders was normal. Spinal fluid; cell count 39/3, protein 85 mg/dl, culture negative. Skull film showed no abnormal calcification. EEG revealed atypical hypsarrhythmia. Pneumoence­phalogram demonstrated cavum septi pellucidi and cavum Vergae. Serological tests for toxoplasmosis, rubella, cytomegalo virus, herpes virus and syphilis were all negative.

On the 7th hospital day she began to have typical infantile spasms and was treated with ACTH and anti­convulsants. Her spinal fluid was inoculated into the peritoneum of mice and cysts of the toxoplasma were found. We concluded that she has congenital toxo­plasmosis in spite of negative serological tests, and we found her to be a very rare case of toxoplasmosis with midline anomalies and infantile spasms.

B-35

Findings of Computerized Tomography with Two Cases of Subdural Abscess Masahiro Mino, MD, Yasuo Kasubuchi, MD, Tomoichi Kusunoki, MD, Masato Fujimoto, MD, Mifsuo Toyama, MD, Fumiaki Nakajima, MD, Isao Kuroda, MD, Department of Pediatrics (MM, YK, TK) and Nourosurgery (MF, MT), Kyoto Prefectural Univer­sity of Medicine, Kyoto, Department of Pediatrics, (FN,IK), Gifu Prefectural Hospital, Gifu

Case 1, a 7-month-old female infant was admitted on June 11, 1977, with a 2-week history of high fever, right hemiconvulsion and right hemiparesis. She was acutely ill with a temperature of 38.5°C. The blood leucocyte count was 11,600/cu mm. The cerebrospinal fluid was normal. An electroencephalogram showed lazy activity on the left side without spike compo­nen ts. Brain scans showed increased activity, the so-called doughnut sign, at the surface of the left convexity. Computerized tomography (CT) showed a large area with low density over the left hemisphere in the frontoparietal area. There was a midline shift with the deformity of the lateral ventricles toward the right side. After contrast medium injection the low density area was surrounded by an enhanced thick membrane. On the fifth hospital day burr holes were made and pus was drained from the left temporo­parietal space.

Case 2, a 14-year-old boy was admitted on July 11, 1977, with left frontal headache, fever and con­fusion. He had a temperature of 39.00 C, a stiff neck and Kernig sign. The blood leucocyte count was 17,300/cu mm. The spinal fluid contained 90 leuco­cytes, with 32 mg% protein, 73 mg% glucose with a negative culture. Vigorous antibiotic therapy was started. On the third hospital day he had right hemi­convulsion and hemiparesis. Cerebral angiography and brain scans were performed, but there was no signifi­cant findings. Thereafter his clinical manifestation was remarkably improved. CT on the 21-hospital day showed an isodensity mass surrounded by brain edema, which was enhanced slightly -after contrast medium injection.

In case 1 the thick capsule of the abscess was re­markably enhanced by contrast medium injection for the acute phase. While in case 2 with abscess organiza­tion clear enhancement was not seen. A common feature of the two CT was a mass surrounded by edema on the convexity.

Brain & Development, Vall, No 3,1979 245

B-36

Computed Tomography of Cerebral Palsy: Eva­luation of Brain Damage by Volume Index of CSF Space· Masatoshi Ito, MD, Yukuo Konishi, MD, Yuriko Yamorz~ MD, Takehiko Okuno, MD, Hiroatsu Hojo, MD, Yoshihisa Nakano, MD, Department of Pediatrics (MI, YK, YY, TO, HH) and Radiology (YN), Kyoto University School of Medicine, Kyoto

We examined 110 cases of cerebral palsy and 64 cases of disturbance of central coordination (DCC) with EMI scanners, CTlOOO and CTl010.

CT findings of cerebral palsy were normal in nine (8.2%), cerebral atrophy in 101 (91.8%), localized low density areas in 24 (21.8%), asymmetry in 34 (30.9%), and midline anomaly in 11 (10.0%) (Table 1).

In spastic hemiplegia, the characteristic CT re­vealed asymmetrical ventricular dilatation without cor­tical atrophy and localized low density areas (porence­phaly or infarction) in the opposite side of the palsy. In spastic tetraplegia, the characteristic CT revealed moderate to marked diffuse cerebral atrophy. Spastic diplegia and hypotonia also revealed diffuse cerebral atrophy, but the degrees of cerebral atrophy were less

Table 1 Types of cerebral palsy and CT findings

than spastic tetraplegia. In athetosis, the CT findings were normal or slightly abnormal showing mild cereb­ral atrophy.

CT findings of DCC were normal in 10 (15.6%), cerebral atrophy in 54 (84.4%), asymmetry in two (3.1 %), and midline anomaly in four (6.3%). There were no localized low density areas.

In 60 cases of cerebral palsy and 64 cases of DCC, we calculated the volume index of CSF space using a computer, Eclipse s/200. The volume index of CSF space was the ratio of all matrixes in the cranial cavity and all matrixes from 0 to 27, EMI number, in the three sequential slices including lateral ventricles.

The volume indexes of CSF space were 1.50% (SD = ±0.86) in 20 normal children, 8.74% (SD = ±5.10) in the patients with DCC, and 13.04% (SD = ±9.86) in the patients with cerebral palsy. The differences of the mean values were significant (p < 0.01).

The correlation between the grades of mental retar­dation and volume index of CSF space was fair.

CT scan was useful to determine the severity and prognosis of cerebral palsy and disturbance of central coordination.

Type No of cases Normal Cerebral Low density Asymmetry Midline atrophy area anomaly

Spastic Monoplegia 1 0 1 1 1 0 Paraplegia 3 0 3 0 0 0 Hemiplegia 21 1 20 13 19 3 Triplegia 2 0 2 2 2 1 Tetraplegia 26 0 26 5 9 6 Diplegia 17 3 14 1 1 0

Athetosis 11 5 6 0 0 0 Ataxia 0 0 0 0 Hypotonia 14 0 14 0 0 0

Mixed 14 0 14 2 2

Total 110 9 101 24 34 11

246 Brain & Development, Vol 1, No 3,1979

B-37

Late Effect of Head Injury in School Children Yoshikazu Kyuma, MD, Tsutomu Uchiyama, PhD, Department of Neurosurgery, Yokohama City Univer­sity, School of Medicine, Yokohama (YK), Depart­ment of Psychology, The Kanagawa Rehabilitation Center, Atsugi (TU)

The follow-up examinations of physical and mental status were studied for five head injured school chil­dren who were admitted to the Kanagawa Rehabilita­tion Center in the past four years. The youngest case was 6 years and 2 months old. The oldest one was 11 years and 2 months old. The injuries include com­pound depressed fracture of left parietal bone, intra­cerebral hematoma of left frontal lobe, subdural hygroma at left frontal area, contusio in bilateral deep frontal lobe and contusio in left temporal lobe. The length of consciousness disturbance was scattered from 5 days to 3 months. At admission, two cases of right hemiplegia, two cases of gait ataxia, three cases of aphasia and two cases of dysarthria were candidates for rehabilitation.

The aphasia cases, although one of them had not been able to express any words, became able to carry out conversation in daily life one year and four months after the injury. But when they returned to school, improvement in writing and readmg was slow. One case still has difficulty in reading Ch inese charac­ters 3 years after the injury. IQ recovered to the normal range in all cases. But school attainment stayed at a lower level, because of reading disturbance in aphasia cases, and of memory disturbance in other cases. A short concentration span appeared in school, but it returned normal gradually.

It is said that recovery of physical and mental deficits is favorable in childhood. Although the abil­ities of daily living, conversation and IQ look almost normal, school performances are not always parallel to them. In order to prevent maladaptation to school life, comprehensive medical, psychological and educa­tional care for a long term is necessary.

B-38

Studies on Infantile Spasms Using Computed Tomography Jiro Abe, MD, Kiyoomi Suml~ MD, Takahiro Sugita, MD, Hiroshi Shimizu, MD, Takashi Mimaki, MD, Hyakuji Yabuuchi, MD, Department of Pediatrics, School of Medicine, Osaka University, Osaka

We studied if the CT technique was useful for predict­ing the prognosis of the patients who suffered from infantile spasms. CT scan was performed on 44 pa­tients (male 25, female 19) from January 1976 to January 1978.

Results As the results of CT scan, brain atrophy was observed in 24 cases, borderline (obscure brain atrophy) in five cases and no brain a trophy in 15 cases. 1. Brain atrophy was found in 16 (72.8%) of 22 pa­

tients who already had developmental retardation before the onset of infantile spasms and also was found in eight (36.4%) of 22 patients who did not have developmental retardation. The developmen­tal retardation and brain atrophy correlated signifi­cantly. (p<O.05)

2. Brain atrophy was found in 19 (73.1%) of 26 pa­tients who showed frequent seizures. On the other hand, brain atrophy was observed in four (28.6%) of 14 patients who had no seizure for over a year.

3. Patients whose intelligence or development quo­tients (IQ or DQ) were normal did not reveal any brain atrophy. The patients with severe mental retardation (below IQ or DQ 50), however, showed a significantly high frequency of brain atrophy. (p<0.05)

4. Brain atrophy was found in 12 (85.8%) of 14 pa­tients with hemiplegia or tetraplegia, while the frequency of brain atrophy was low (40.0%) (12 of 30 patients) in nonparalytic patients. Paralysis and brain atrophy correlated significantly. (p <0.05) Our findings suggest that the cases of infantile

spasms with brain atrophy on CT scan will have poor prognosis on either intelligence or neurological deficits.

Brain & Development, Vol 1, No 3,1979 247

B-39

Computed Tomography in the Early Stage of Infantile Spasms: Use fullness for Detecting Subdural Lesion Akira Onuma, MD, Norimitsu Takamatsu, MD, Kazuie Iinuma, MD, Namio Kodama, MD, Shuichi Watanabe, MD,' Department of Pediatrics (A 0, NT, KI) and Division of Neurosurgery, Institute of Brain Disease (NK), Tohoku University, School of Medicine, Sen­dai, Pediatric Clinic, Sendai City Hospital, Sendai (SW)

We experienced 22 new cases of infantile spasms, whose ages ranged from 2 months to 30 months, from February 1976 to January 1978. Computed tomo­graphy (CT) was carried out for all 22 cases as one of the morphological examinations for central nervous system abnormalities.

CT showed generalized brain atrophy with extra­cerebral fluid accumulation (ECA) in seven cases, simple generalized brain atrophy (GA) in eight cases, hemispheric atrophy in two cases, anomaly in two cases, calcifications in two cases and no abnormalities in two cases.

EEGs in the ECA group showed typical hypsar­rhythmia in three cases, atypical hypsarrhythmia (low voltage or asymmetric pattern) in two cases and non­hypsarrhythmia in two cases. On the other hand, in all of the GA group, EEGs showed typical hypsarrhyth­mia.

Three of the seven cases of the ECA group, were confirmed as having subdural lesions by craniotomies, and the other four cases were diagnosed as having primary brain atrophy. None of the cases which were confirmed as having subdural lesions, had an accident in the perinatal period. A case of chronic subdural hematoma was caused by head trauma in the neonatal period, which was accompanied by the battered child syndrome. The origin of the subdural lesions in the other two cases was obscure. In two of these three cases, EEGs recorded before onset of infantile spasms showed diffuse low voltage suggesting the presence ot' subdural lesions. EEGs in these three cases showed hypsarrhythmia-like patterns, but not typical, when the infantile spasms occurred. Diffuse or focal low voltage was observed in each case. It is thOUght that asymmetry or diffuse low voltage in EEGs might suggest the presence of marked cortical atrophy or subdural lesion, and that CT is usefull for detecting subdural lesions in the early stage of infantile spasms.

248 Brain & Development, Vall, No 3,1979

B-40

CT Findings of West Syndrome Kimiko Hara, MD, Kazuyoshi Watanabe, MD, Shuji Miyazaki, MD, Department of Pediatric Neurology, Central Hospital, Aichi Prefecture Colony, Kasugai

The present study concerns the CT scans of 96 pa­tients with West syndrome. The method of studying the brain by CT scan was by analysis of cerebrospinal fluid spaces (ventricles, Sylvian fissures, interhemi­spheric fissure, and subarachnoid spaces) and low density appearance of the white matter. Then, correla­tions were studied with the following factors, ie, etiol­ogic factor, clinical seizure, EEG finding and motor deficit. Distinctive correlations were as follows: A. The 91.6% of the patients who had perinatal dis­

turbance showed enlarged interhemispheric fissure, compared with about 60.0% of the patients who had other disturbances as etiology of infantile spasms.

B. The 77.1% of the patients who became seizure free showed normal subarachnoid space of the posterior part of the head, compared with 46.0% of the pa­tients who did not.

C. Significant relationship was found between seizure discharges on the EEG and enlarged interhemi­spheric fissure.

D. Absence of sigma rhythms on the EEG was signifi­cantly correlated with enlarged ventricles, enlarged interhemispheric fissure, enlarged Sylvian fissures and enlarged subarachnoid spaces.

E. Motor deficit was significantly correlated with en­larged ventricles, enlarged interhemispheric fissure, enlarged Sylvian fissures, enlarged space of the posterior part of the head and low density of the white matter.

F. The 76.6% of the patients who were unable to walk showed enlarged interhemispheric fissure, compared with the 36.4% of the patients who were able to walk. (Above 2 years old.)

B-41

Cranial Computerized Tomography in Children with Tuberous Sclerosis Shinobu Higami, MD, Masayoshi Kin, MD, Osamu Matsuoka, MD, Gen Isshiki, MD, Yuiichi Inoue, MD, Masao Tamaki, MD, Department of Pediatrics (SH, -MK, OM, GI) and Radiology (YI, MT), Osaka City University Medical School, Osaka

Tuberous sclerosis is well known as the most common neurocutaneous dysplasia. The clinical picture consists of the triad of adenoma sebaceum, seizures and mental deficiency.

The diagnosis was previously confirmed by the demonstration of intracerebral tumors by means of pneumoencephalography.

Recently, some authors reported on the recog­nition of cerebral sclerotic areas in tuberous sclerosis by means of computerized tomography.

The purpose of the present investigation was to study the relation between mentality and cerebral sclerotic areas with computerized tomography in chil­dren with tuberous sclerosis.

The present study includes eight children of ages of 3 to 14 years who were known to have tuberous sclerosis. The computerized tomography was done with an EMI-lOOO or 1010. The results are: 1. Ventricular dilatation was seen in six children who

had mental deficiency. Two children who had normal mentality did not show ventricular dilata­tion.

2. In the present series paraventricular tumors were demonstrated most often. They were localized nearly as frequently close to the lateral wall of the anterior horns in the area of the nucleus caudatus and the trigonum.

Some calcified tumors in CT which were attached to the walls of temporal horns were found in seven children.

3. There was no relationship between the number of calcified tumors in CT and mentality.

4. Cortical atrophy in CT was seen only in one case. Our results suggest that CT is useful in the assess­ment of prognosis of tuberous sclerosis.

Brain & Development, Vol 1, No 3, 1979 249