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CHAPTER I
INTRODUCTION
There are 3 topics related to the alimentary and hepatobiliary system and
disorders block that will be discussed in this paper; cleft lip and palate,
leukoplakia, and intussusception. Each topic is further elaborated in its own
chapter.
Orofacial clefts, ie. cleft lip (CL), cleft lip and palate (CLP), are among the
most common congenital anomalies. Approximately 1 case of orofacial cleft
occurs in every 500-550 births. In the United States, 20 infants are born with
an orofacial cleft on an average day, or 7500 every year.1 Children who have
an orofacial cleft require several surgical procedures and complex medical
treatments; the estimated lifetime medical cost for each child with an
orofacial cleft is $100,000, amounting to $750 million for all children with
orofacial cleft born each year in the United States. Also, these children and
their families often experience serious psychological problems.2
The correct diagnosis of a cleft anomaly is fundamental for treatment, for
further genetic and etiopathological studies, and for preventive measures
correctly targeting the category of preventable orofacial clefts.3
The World Health Organization (WHO) first defined oral leukoplakia as a
white patch or plaque that could not be characterized clinically or
pathologically as any other disease; therefore, lichen planus, candidiasis, and
white sponge nevus were excluded.4
No etiologic factor can be identified for most persistent oral white plaques
(ie, idiopathic leukoplakia). The histopathologic features are highly variable,
ranging from hyperkeratosis and hyperplasia to atrophy and severe dysplasia.4
Patients with idiopathic leukoplakia have the highest risk of developing
cancer. In studies of these patients, 4-17% had malignant transformation of
the lesions in less than 20 years. The risk of developing malignancies at
lesion sites is 5 times greater in patients with leukoplakia than in patients
without leukoplakia.
4
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Estimates of malignant transformation vary from 3-33% over a 10-year
period. However, many innocuous leukoplakias are not always followed up in
some centers, and the studies are often small. As many as 30% of
leukoplakias can regress if habits are stopped.5
Patients must be aware that lesions may recur. They should be able to
monitor the lesions and report any changes. They should maintain excellent
oral hygiene. Patients should avoid any causal factor, such as use of tobacco
and alcohol. Leukoplakias can regress under these circumstances. Any degree
of dysplasia in a lesion at a high-risk site must be taken seriously and the
lesion should be removed. Occasionally, patients are treated by photodynamic
therapy or topical cytotoxic agents. Patients should be examined regularly,
probably at 3- to 6-month intervals.5
Intussusception is a common cause of childhood intestinal obstruction,
occurring more frequently in white children aged 6 months to 2 years and in
more males than in females (3:1-2). When this condition occurs in neonates
and in children older than 2 years, there is a high incidence of associated
bowel abnormality that serves as an initiating lead point for intussusception
(about 5% of patients are found to have a lead point). In addition,
intussusception is known to occur with greater frequency in children who
have undergone recent abdominal surgery, either intraperitoneal or
retroperitoneal operations. It is thought that early adhesions or focal edema of
the bowel wall create a lead point for the intussusception.6
Invagination of a bowel segment (usually, the small bowel) into the lumen of
the more distal bowel (usually, the colon) occurs. The invaginated segment
(intussusceptum) is carried distally by peristalsis. Mesentery and vessels
become involved with the intraluminal loop and are squeezed within the
engulfing segment (intussuscipiens). Almost all occurrences are acute, and
bowel obstruction is often the presenting sign of intussusceptions.7
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CHAPTER II
CLEFT LIP AND PALATE
2.1 Risk Factor
There are many risk factors associated with cleft lip and palate. Ethnicity,
family history, maternal exposure to environmental factors, maternal diet that
cause the formation of cleft lip as well as gender are predisposing factors.1
Figure 1. Risk Factor of Cleft Lip and Palate1
2.2 Etiology and Epidemiology
There are various causes of cleft lip and palate. In general, any factor that
could prevent the processes from reaching each other by slowing down
migration, multiplication, or both of neural crest cells by stopping tissue
growth and development for a time or by killing some cells that are already in
that location would cause a persistence of a cleft. Also, the epithelium that
covers the mesenchyme may not undergo programmed cell death, so that
fusion of processes cannot take place.1 However, among those that have been
identified are genetic factors and environmental factors. It is believed that
genetic factors give the baby a predisposition for the disease, but the exposure
to environmental factors trigger the occurrence.2
RISK
FACTOR
S
Family
Histo
ry
Maternal
Obesit
y
Race Sex
Environmental
Factors
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Maternal exposure to hypoxia during pregnancy, cigarette smoke, alcohol
and illicit drugs are also common risk factors are known environmental risk
factors. Pesticide exposure has also been pointed out. Maternal diet and
vitamin intake; retinoid, anticonvulsant drugs, nitrate compounds, organic
solvents, parental exposure to lead and illegal drugs also contribute to the
occurrence of cleft lip and palate.2
Epidemiological data suggests that in general, all typical orofacial cleft types
combined occur in white populations with a frequency of 1 per 500-550 live
births. The prevalence rate of clefts in different racial groups is considerable.
The lowest rate is for blacks. A high prevalence of cleft lip with or without
cleft palate was found for the Japanese population, and the highest prevalence
was found for the North American Indian populations. In contrast, no
remarkable variation among races was found in cleft palate. In particular, its
prevalence did not significantly vary between black and white infants or
between infants of Japanese and European origin in Hawaii.1
The sex ratio in patients with clefts varies. In whites, cleft lip and cleft lip and
palate occur significantly more often in males, and cleft palate occurs
significantly more often in females. In cleft lip with or without cleft palate,
the sex ratio correlates with the severity and laterality of the cleft. A large
study of 8,952 orofacial clefts in whites found the male-to-female sex ratio to
be 1.5-1.59:1 for cleft lip, 1.98-2.07:1 for cleft lip and palate, and 0.72-0.74:1
for cleft palate.1
2.3 Pathogenesis and Pathophysiology
The embryological development of the upper lip and nose requires a sequence
of complex, genetically programmed events. This involves fusion of the 5
major facial prominences occurring between the 3rd and 8th week of
gestation, with lip development between the 3rd and 7th weeks, and palate
development between the 5th and 12th week.1
The complexity of this cranio-facial developmental pathway and the
numerous developmental points at which clefting could be induced is
reflected in the heterogeneity of the phenotypic expression of the condition. 1
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Cleft lip and/or palate: the maxillary, medial nasal and lateral nasal
prominences converge through a complicated process of epithelial
bridging, programmed cell death and sub-epithelial-mesenchymal
penetration.Cleft lip and/or palate is likely to be secondary to a defect of
epithelial fusion or mesenchymal growth, processes involving many
possible genetic loci or intracellular signalling pathways.This results in
interrupted fusion of the maxillary and median nasal prominences. In bi-
lateral cleft lip with or without cleft palate, the arterial network and
musculature of the lateral elements parallel that of the lateral segment of
the uni-lateral deformity. The abnormal insertion of the cleft lip
musculature follows the cleft margin up to the piriform aperture, and the
prolabial segment receives its blood supply from the septal, columellar,
and pre-maxillary vessels.
Isolated uni-lateral cleft lip: the orbicularis oris (OO) is a ring of
concentric muscle that constricts and puckers the sphincter of the mouth.
In isolated uni-lateral cleft lip, the OO fibres on the cleft side insert into
the nasal base, and the central (non-cleft) OO fibres abnormally insert
into the nasal spine and septum. This causes the base of the nose to splay
laterally when the infant smiles.
Isolated cleft palate: the development of the palate involves fusion of the
lateral palatal shelves and nasal septum in an anteroposterior direction
from the incisive foramen to the uvula. A cleft palate is formed when
normal palatal development is interrupted before the 12th week of
gestation. The degree of clefting can range from a complete isolated cleft
palate to a bifid uvula. Deformational cleft palate is seen in Pierre Robinsequence, where a small mandible (micrognathia) limits the space for the
tongue, and the prominent tongue (glossoptosis) mechanically obstructs
palatal fusion leading to the classic triad of micrognathia, glossoptosis
and an isolated cleft palate.
Midline clefts of the nose and/or lip: these are likely to arise from an
interruption in the fusion of the paired median nasal prominences during
embryological development. Most median facial deformities represent
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developmental field defects, and are sporadic with multiple aetiological
factors.
In facial morphogenesis, neural crest cells migrate into the facial region,
where they form the skeletal and connective tissue and all dental tissues
except the enamel. Vascular endothelium and muscle are of mesodermal
origin.
The upper lip is derived from medial nasal and maxillary processes. Failure
of merging between the medial nasal and maxillary processes at 5 weeks'
gestation, on one or both sides, results in cleft lip. Cleft lip usually occurs at
the junction between the central and lateral parts of the upper lip on either
side. The cleft may affect only the upper lip, or it may extend more deeply
into the maxilla and the primary palate. (Cleft of the primary palate
includes cleft lip and cleft of the alveolus.) If the fusion of palatal shelves is
impaired also, the cleft lip is accompanied by cleft palate, forming the cleft
lip and palate abnormality. 1
Cleft palate is a partial or total lack of fusion of palatal shelves. It can occur
in numerous ways: 1
Defective growth of palatal shelves
Failure of the shelves to attain a horizontal position
Lack of contact between shelves
Rupture after fusion of shelves
The secondary palate develops from the right and left palatal processes.
Fusion of palatal shelves begins at 8 weeks' gestation and continues usually
until 12 weeks' gestation. One hypothesis is that a threshold is noted beyond
which delayed movement of palatal shelves does not allow closure to takeplace, and this results in a cleft palate. 1
2.4 Clinical Manifestation
Cleft lip can occur as a unilateral (on the left or right side) or as a bilateral
anomaly. The line of cleft always starts on the lateral part of the upper lip and
continues through the philtrum to the alveolus between the lateral incisor and
the canine tooth, following the line of sutura incisiva up to the foramen
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incisivum. The clefting anterior to the incisive foramen (ie, lip and alveolus)
is also defined as a cleft primary palate. Cleft lip may occur with a wide
range of severity, from a notch located on the left or right side of the lip to the
most severe form, bilateral cleft lip and alveolus that separates the philtrum of
the upper lip and premaxilla from the rest of the maxillary arch. 1
When cleft lip continues from the foramen incisivum further through the
sutura palatina in the middle of the palate, a cleft lip and palate (either
unilateral or bilateral) is present.2
A wide range of severity may be observed. The cleft line may be interrupted
by soft (skin or mucosa) bridges, hard (bone) bridges, or both, corresponding
to a diagnosis of an incomplete cleft. This occurs in unilateral and bilateral
cleft lip and palate.2
Several subtypes of cleft palate can be diagnosed based on severity. The
uvula is the place where the minimal form of clefting of the palate is
observed. However, a relatively high prevalence of this anomaly in the
general population suggests that a certain proportion may represent the very
far end of a normal variability. A more severe form is a cleft of the softpalate. A complete cleft palate constitutes a cleft of the hard palate, soft
palate, and cleft uvula. The clefting posterior to the incisive foramen is
defined as a cleft of secondary palate.3
2.5 Diagnosis and Management
Traditionally, the diagnosis is made at the time of birth by physical
examination. Recent advances in prenatal diagnosis have allowed
obstetricians to diagnose facial clefts in utero. Medical tests may be done to
rule out other possible health conditions.3 Cleft lip can be easily diagnosed by
performing ultrasonography in the second trimester of pregnancy when the
position of the fetal face is located correctly. 1
Cleft lip and palate is very treatable; however, the kind of treatment depends
on the type and severity of the cleft.3
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The cleft lip can be repaired by surgical therapy within the first 23 months
after birth. While surgery to repair a cleft lip can be performed soon after
birth, the often preferred age is at approximately 10 weeks of age, following
the "rule of 10s" coined by surgeons Wilhelmmesen and Musgrave in 1969
(the child is at least 10 weeks of age; weighs at least 10 pounds, and has at
least 10g hemoglobin). If the cleft is bilateral and extensive, two surgeries
may be required to close the cleft, one side first, and the second side a few
weeks later. The most common procedure to repair a cleft lip is the Millard
procedure pioneered by Ralph Millard. 3
Often an incomplete cleft lip requires the same surgery as complete cleft.
This is done for two reasons. Firstly the group of muscles required to purse
the lips run through the upper lip. In order to restore the complete group a full
incision must be made. Secondly, to create a less obvious scar the surgeon
tries to line up the scar with the natural lines in the upper lip (such as the
edges of the philtrum) and tuck away stitches as far up the nose as possible.
Incomplete cleft gives the surgeon more tissue to work with, creating a more
supple and natural-looking upper lip. 3
In some cases of a severe bi-lateral complete cleft, the premaxillary segment
will be protruded far outside the mouth. 3
Nasoalveolar molding followed by surgery can improve long-term nasal
symmetry among patients with complete unilateral cleft lip-cleft palate
patients compared to surgery alone, according to a retrospective cohort study.
Significant improvements in nasal symmetry were observed in the
measurements of the projected length of the nasal ala, position of the
superoinferior alar groove, position of the mediolateral nasal dome, and nasal
bridge deviation. 3
Cleft palate can also be corrected by surgery, usually performed between 6
and 12 months. Approximately 20-25% only require one palatal surgery to
achieve a competent velopharyngeal valve capable of producing normal, non-
hypernasal speech. However, combinations of surgical methods and repeated
surgeries are often necessary as the child grows. One of the new innovations
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of cleft lip and cleft palate repair is the Latham appliance. The Latham is
surgically inserted by use of pins during the child's 4th or 5th month. After it
is in place, the doctor or parents turns a screw daily to bring the cleft together
to assist with future lip and/or palate repair. 3
If the cleft extends into the maxillary alveolar ridge, the gap is usually
corrected by filling the gap with bone tissue. The bone tissue can be acquired
from the patients own chin, rib or hip. 3
After closing the cleft through surgical procedure, things to be considered are
the speech and hearing ability of the patients. A tympanostomy tube is often
inserted into the eardrum to aerate the middle ear. This is often beneficial for
the hearing ability of the child. 3
Speech problems are usually treated by a speech-language pathologist. In
some cases pharyngeal flap surgery or augmentation pharyngoplasty is
performed to reduce the escape of nasal airflow in speech sounds requiring
oral air pressure, to improve the pronunciation of those sounds, and reduce
nasality in those parts of speech that are not normally nasalized. The speech-
language pathologist may also be called on to correct incorrect speakinghabits that the child developed before the cleft was corrected surgically. 3
2.6 Prognosis
Although treatment may continue for several years and require several
surgeries, most children with a cleft lip and palate can achieve normal
appearance, speech, and eating. However, some people may have continued
speech problems. 3
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CHAPTER III
LEUKOPLAKIA
3.1 Risk Factor
Leukoplakia is a white lesion that, unlike oral candidiasis, cannot be removed
by rubbing the mucosal surface. The areas of leukoplakia are usually small
but may be several centimeters in diameter. Histologically, they are often
hyperkeratoses occurring in response to chronic irritation (e.g., from tobacco
and dentures); about 2-6%, however, represent either dysplasia or early
invasive squamous cell carcinoma.4
There are some risk factors that contribute to the occurrence of leukoplakia:
a. Age
Those with age older than 65 have increased risk of having leukoplakia.
b. Sex
More men than women get leukoplakia. In women, the condition more
often develops into cancer.
c. Lifestyle
Tobacco (especially smokeless tobacco) and long-time alcohol use
increase the vulnerability of getting leukoplakia.
d. Conditions
Incidence of leukoplakia increase in those with diminished immune
system, such as in HIV-positive patients.
3.2 Etiology and Epidemiology
No etiologic factor can be identified for most persistent oral leukoplakias
(idiopathic leukoplakia). Known causes of leukoplakia include the
following:5
Trauma (eg, chronic trauma from a sharp or broken tooth or from mastication
may cause keratosis)
Tobacco use: Chewing tobacco is probably worse than smoking.
Alcohol
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Infections (eg, candidosis, syphilis, Epstein-Barr virus infection): Epstein-
Barr virus infection causes a separate and distinct nonpremalignant
lesion termed hairy leukoplakia.
Chemicals (eg, sanguinaria)
Immune defects: Leukoplakias appear to be more common in transplant
patients.
Epidemiological study shows that leukoplakia is uncommoon, possibly
occurring in less than 1% of adults. An increased prevalence is observed in
communities and races with hibh tobacco use, such as Southeast Asia. Males
have the highest incidence of leukoplakias. Leukoplakias are usually seen in
adults older than 40.5
3.3 Pathogenesis and Pathophysiology
No etiologic factor can be identified for most persistent oral white plaques
(ie, idiopathic leukoplakia). The histopathologic features are highly variable,
ranging from hyperkeratosis and hyperplasia to atrophy and severe dysplasia.
Patients with idiopathic leukoplakia have the highest risk of developing
cancer. In studies of these patients, 4-17% had malignant transformation of
the lesions in less than 20 years. The risk of developing malignancies at
lesion sites is 5 times greater in patients with leukoplakia than in patients
without leukoplakia.5
Dysplastic lesions do not have any specific clinical appearance; however,
where erythroplakia is present, dysplasia is likely. Dysplasia is evident in 17-
25% of biopsy samples of leukoplakias. Erythroleukoplakias, verrucous
leukoplakias, and nodular leukoplakias show an increasing frequency of
dysplastic histologic changes or aneuploidy. 5
Leukoplakias that are speckled, or erythroleukoplakic, are usually dysplastic
or frank carcinomas. Nodular or verrucous lesions are also sinister, but
homogenous leukoplakias are far less likely to be potentially malignant. 5
Most idiopathic leukoplakias are homogenous leukoplakias and show little
evidence of dysplastic histologic changes or aneuploidy. However, studies
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have revealed carcinoma or severe dysplasia in the excision specimens of
approximately 5% of leukoplakias excised when the diagnostic biopsy
specimens had revealed no dysplasia. 5
Carcinoma in situ is a controversial term used for severe dysplasia in which
the abnormalities extend throughout the thickness of the epithelium. All the
cellular abnormalities characteristic of malignancy may be present; only
invasion of the underlying connective tissue is absent. Top-to-bottom
epithelial dysplasia, like other dysplastic lesions, has no characteristic clinical
appearance, although erythroplasia often proves to be carcinoma in situ or
early invasive carcinoma. 5
3.4 Clinical Manifestation
Leukoplakia has a varied clinical appearance and its appearance frequently
changes over time. Change or progression over time accounts for yet another
unique aspect of leukoplakia, it is one of the few diseases in which long
duration is not evidence of harmless future behavior. Lesions of long duration
have a greater risk of malignant transformation than those of short duration,
and the older a leukoplakia the worse is its prognosis.4
Leukoplakias are white lesions that cannot be removed with a gauze swab.
Most leukoplakias are smooth, white plaques (homogeneous leukoplakias),
occur on the lip, the buccal mucosae, or the gingivae. Some leukoplakias are
white and warty (verrucous leukoplakia), some are mixed white and red
lesions (erythroleukoplakias or speckled leukoplakias). Dysplastic lesions do
not have any specific clinical appearance; however, where erythroplasia is
present, dysplasia, carcinoma in situ, and frank carcinomas are more likely to
be seen. The site of the lesion is relevant; leukoplakias on the floor of the
mouth or on the ventrum of the tongue and the lip are sinister. The size of the
lesion appears to be irrelevant. Even small dysplastic lesions may lead to
multiple carcinomas and a fatal outcome.5
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3.5 Diagnosis and Management
The first diagnostic method should be performed is physical examination. A
systematic intraoral examination including the lateral tongue, floor of the
mouth, gingiva, buccal area, palate, and tonsillar fossae and palpation of the
neck for enlarged lymph nodes should be part of any general physical
examination, especially in patients over the age of 45 who smoke tobacco or
drink immoderately.4
Oral biopsy is performed to detect the dysplastic cells. Intraoral staining with
1% toluidine blue may aid in selection of the most suspicious biopsy site.4
The recently introduced, computer-assisted, oral brush biopsy is a detection
tool providing evidence of cellular abnormalities in precancerous and
cancerous lesions. With the aid of a highly specialized, neural, network-
based, image-processing system specifically designed to detect oral epithelial
precancerous and cancerous cells, the pathologist can detect as few as 1 or 2
abnormal individual cells in several hundred thousand cells. The detection of
1 or 2 such abnormal cells is sufficient to warrant a histologic specimen
obtained by scalpel biopsy.5
The histopathologic features are highly variable, ranging from hyperkeratosis
and hyperplasia to atrophy and severe dysplasia. The histologic assessment of
oral epithelial dysplasia is notoriously unreliable. Many studies show
interpathologist and intrapathologist variation in diagnosing dysplasia.
Besides the fact that the criteria for diagnosing dysplasia are ill defined,
another serious problem exists. A tissue specimen from a biopsy may not be
representative of the whole lesion. Latent carcinomas may be missed.5
Molecular and genetic analysis of premalignant and malignant tissue has
produced increasing evidence of genetic instability (including microsatellite
instability, cell cycle-regulatory gene P16 and P14 deletions and
hypermethylation, and mutations in P53); and clonal alterations, such as loss
of retinoic acid -receptor expression, occur during the early stage of
aerodigestive tract carcinogenesis. These molecular and epidemiologic
studies provide the foundation on which clinical trials have been designed to
evaluate the role of retinoids and other compounds in the reversal of
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premalignancy and the possible reduction in the 4-5% annual rate of second
primary tumors.4
Once the diagnosis is established, thorough management should be done. The
objective of care is to detect and to prevent malignant change. Several
management regimens have been suggested; however, no large trials have
shown a definitive, reliable treatment. Yet, possible courses of action include
medical therapies (eg, anti-inflammatory agents, vitamins, cytotoxic agents)
and surgical removal (eg, scalpel, laser, cryoprobe, electrosurgery,
photodynamic therapy).5
Patients should avoid any causal factor, such as use of tobacco and alcohol.
Leukoplakias can regress under these circumstances. Any degree of dysplasia
in a lesion at a high-risk site must be taken seriously and the lesion should be
removed. Occasionally, patients are treated by photodynamic therapy or
topical cytotoxic agents. Patients should be examined regularly, probably at
3- to 6-month intervals. A diet rich in fresh fruits and vegetables may help
prevent cancer.5
A number of clinical trials have suggested a role for beta-carotene, vitamin E,and retinoids in producing regression of leukoplakia and reducing the
incidence of recurrent SCCs. Retinoids suppress head and neck and lung
carcinogenesis in animal models and inhibit carcinogenesis in individuals
with premalignant lesions. They also seem to reduce the incidence of second
primary cancers in head and neck and lung cancer patients previously treated
for a primary.4 Retinoids appear to be very effective but can have severe
adverse effects on liver function and may cause teratogenicity. 5
3.6 Prognosis
Some leukoplakias are potentially malignant. Dysplasia currently appears to
be the best predictor of malignant potential. As many as 25% of leukoplakias
are dysplastic at the first visit. Malignant change appears to be more frequent
among nonsmokers than among smokers.5
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Estimates of malignant transformation vary from 3-33% over a 10-year
period. However, many innocuous leukoplakias are not always followed up in
some centers, and the studies are often small. As many as 30% of
leukoplakias can regress if habits are stopped. A poorer prognosis is noted in
females, nonsmokers, moderate or severe epithelial dysplasia, and lesions in
high-risk sites, such as the floor of the mouth.5
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CHAPTER IV
INTUSSUSCEPTION
3.1 Risk Factor
Intussusception is a process in which a segment of intestine invaginates into
the adjoining intestinal lumen, causing bowel obstruction.6 There are some
conditions that can increase the risk of intussusception, including:6
a.Age
Children are much more likely to develop intussusception than adults are.
It is the most common cause of bowel obstruction in children between the
ages of 3 months and 6 years, with the majority of cases occurring in
children younger than 1 year.
b.Sex
Intussusception affects boys more often than girls.
c.Abnormal Intestinal Formation at Birth
Malrotation, a condition present at birth (congenital) in which the
intestine doesnt develop correctly, also is a risk factor for
intussusception.
d.Prior History of Intussusception
The risk of developing intussusception increases in those who have prior
history of this disease.
3.2 Etiology and Epidemiology
The cause of most intussusception is unknown. It is postulated that
gastrointestinal infection or the introduction of new food proteins results in
swollen Peyer patches in the terminal ileum. The prominent mounds of tissue
lead to mucosal prolapse of the ileum into the colon, thus causing an
intussusception. In 2-8% of patients, recognizable lead points for the
intussusception are found, such as a Meckel diverticulum, intestinal polyp,
neurofibroma, intestinal duplication, hemangioma, or malignant conditions
such as lymphoma. Lead points are more common in children older than 2
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year of age. Intrauterine intussusception is associated with the development
of intestinal atresia.7
The true prevalence of intussusception is difficult to be obtained because of a
wide geographic variation in incidence of intussusception among countries
and cities within a country. There is no significant difference in the incidence
of intussusception is reported between races. Most series report a slight
preponderance of males, with a male-to-female ratio of approximately 3:2.6
Two thirds of children with intussusception are younger than 1 year; most
commonly, intussusception occurs in infants aged 5-10 months. Although
extremely rare, intussusception has been reported in the neonatal period.
Intussusception can account for as many as 25% of abdominal surgical
emergencies in children younger than 5 years, exceeding the incidence of
appendicitis. Intussusception is the most common cause of intestinal
obstruction in patients aged 5 months to 3 years.6
3.3 Pathogenesis and Pathophysiology
The pathogenesis of intussusception is believed to be secondary to an
imbalance in the longitudinal forces along the intestinal wall. This imbalance
can be caused by a mass acting as a lead point or by a disorganized pattern of
peristalsis (eg, an ileus in the postoperative period). Electrolyte derangements
associated with various medical problems can produce aberrant intestinal
motility, leading to its invagination. Recent experimental studies in animals
showed that abnormal intestinal release of nitric oxide, an inhibitory
neurotransmitter, caused relaxation of the ileocecal valve predisposing to
ileocecal intussusception. Other studies have demonstrated that the use of
certain antibiotics leads to ileal lymphoid hyperplasia and intestinal
dysmotility with resultant intussusception.6
As a result of the imbalance, an area of the intestinal wall invaginates into the
lumen, with the rest of the intestine following. The invaginating portion of
the intestine (ie, intussusceptum) completely invaginates into the receiving
portion of the intestine (ie, intussuscipiens). This process continues and more
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proximal areas follow, allowing the intussusceptum to proceed along the
lumen of the intussuscipiens. 6
If the mesentery of the intussusceptum is lax and the progression is rapid, the
intussusceptum can proceed to the distal colon or sigmoid and even prolapse
out the anus. The mesentery of the intussusceptum is invaginated with the
intestine, leading to the classic pathophysiologic process of any bowel
obstruction. 6
Early in this process, lymphatic return is impeded; then, with the rise in the
pressure within the wall of the intussusceptum, venous drainage is impaired.
Finally, the pressure reaches a point at which arterial inflow is inhibited, and
infarction ensues. The mucosa is most sensitive to ischemia because it is
farthest away from the arterial supply. Ischemic mucosa sloughs off, which
initially leads to the heme-positive stools and then the classic "currant jelly
stool" (a mixture of sloughed mucosa, blood, and mucus). If untreated, the
process progresses to transmural gangrene and perforation of the leading edge
of the intussusceptum. 6
3.4 Clinical Manifestation
In typical cases there is sudden onset, in a previously well child, of severe
paroxysmal colicky pain that recurs at frequent intervals and is accompanied
by straining efforts with legs and knees flexed and loud cries. The infant may
initially be comfortable and play normally between the paroxysms of pain;
but if the intussusception is not reduced, the infant becomes progressively
weaker and lethargic. At times, the lethargy is out of proportion to the
abdominal signs. Eventually a shocklike state may develop with fever. The
pulse becomes weak and thready, the respirations become shallow and
grunting, and the pain may be manifested only by moaning sounds. Vomiting
occurs in most cases and is usually more frequent early. In the later phase, the
vomitus becomes bile stained. Stools of normal appearance may be evacuated
during the first few hours of symptoms. After this time, fecal excretions are
small or more often do not occur and little or no flatus is passed. Blood
generally is passed in the first 12 hr but at times not for 12 days and
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infrequently not at all; 60% of infants pass a stool containing red blood and
mucus, the currant jelly stool. Some patients have only irritability and
alternating or progressive lethargy.7
Palpation of the abdomen usually reveals a slightly tender sausage-shaped
mass, sometimes ill defined, which may increase in size and firmness during
a paroxysm of pain and is most often in the right upper abdomen, with its
long axis cephalocaudal. If it is felt in the epigastrium, the long axis is
transverse. About 30% of patients do not have a palpable mass. The presence
of bloody mucus on the finger as it is withdrawn after rectal examination
supports the diagnosis of intussusception. Abdominal distention and
tenderness develop as intestinal obstruction becomes more acute. On rare
occasions, the advancing intestine prolapses through the anus. This prolapse
can be distinguished from prolapse of the rectum by the separation between
the protruding intestine and the rectal wall, which does not exist in prolapse
of the rectum. 7
Ileoileal intussusception may have a less typical clinical picture, the
symptoms and signs being chiefly those of small intestinal obstruction.
Recurrent intussusception is noted in 58% and is more common after
hydrostatic than surgical reduction. Chronic intussusception, in which the
symptoms exist in milder form at recurrent intervals, is more likely to occur
with or after acute enteritis and may arise in older children as well as in
infants. 7
3.5 Diagnosis and Management
The clinical history and physical findings are usually sufficiently typical for
diagnosis. Plain abdominal radiographs may show a density in the area of the
intussusception. A barium enema shows a filling defect or cupping in the
head of barium where its advance is obstructed by the intussusceptum. A
central linear column of barium may be visible in the compressed lumen of
the intussusceptum, and a thin rim of barium may be seen trapped around the
invagination intestin in the folds of mucosa within the intussuscipiens
(coiled-spring sign), especially after evacuation. Retrogression of the
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intussusceptum under the pressure of the enema and gaseous distention of the
small intestine from obstruction are also useful radiographic signs. Ileoileal
intussusception is usually not demonstrable by barium enema but is suspected
because of gaseous distention of the intestine above the lesion. The use of
air enemas in the diagnosis and treatment of intussusception has supplanted
hydrostatic reduction. Reflux of air into the terminal ileum and the
disappearance of the mass at the ilocecal valve document successful
reduction. Air reduction is associated with fewer complications and lower
radiation exposure than traditional hydrostatic techniques.7
Laboratory investigation is usually not helpful in the evaluation of patients
with intussusception. Leukocytosis can be an indication of gangrene if the
process is advanced. Dehydration is depicted by electrolyte imbalances.6
Ultrasonography is a noninvasive modality that can aid in making the
diagnosis of intussusception. Its accuracy reaches 100%. Hallmarks of
ultrasonography include depiction of the intussusceptum and its mesentery
within the intussuscipiens. Ultrasonography is highly operator dependent;
therefore, interpret result with caution.(medscape) The diagnostic findings of
intussusception include a tubular mass in longitudinal views and a doughnut
or target appearance in transverse images. Ultrasonography is also useful in
demonstrating reduction of the intussusception by hydrostatic or air
techniques.7
In histologic examination, typical findings in a segment of intestine which is
resected at the time of operative reduction are intestinal obstruction with
edema, congestion, lymphocytic infiltration, and transmural infarction.6
The differential diagnoses of intussusception can be appendicitis, colic, cyclic
vomiting syndrome, gastroenteritis, and volvulus.6
Reduction of an acute intussusception is an emergency procedure and
performed imediately after diagnosis in preparation for possible surgery. In
patients with prolonged intussusception with signs of shock, peritoneal
irritation, intestinal perforation, or pneumatosis intestinalis, reduction should
not be attempted.7
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The success rate of radiologic reduction under fluoroscopic or ultrasonic
guidance is approximately 50% if symptoms are present longer than 48 hr
and 70-90% if reduction is done within the first 48 hr. bowel perforatons
occur in 0,5-2,5% of attempted barium and hydrostatic (saline) reductions.
The perforation rate with air reduction ranges from 0,1-0,2%.7
An ileoileal intussusception is best demonstrated by abdominal
ultrasonography. Reduction by instillation of barium, saline, or air may not be
possible. Such intussusceptions may develop insidiously after bowel surgery
and require reoperation if they do not spontaneously reduce. If manual
operative reduction is impossible or the bowel is not viable, resection of the
intussusception is necessary, with end-to-end anastomosis. 7
3.6 Prognosis
Untreated intussusception in infants is almost always fatal; the chances of
recovery are directly related to the duration of intussusception before
reduction. Most infants recover if the intussusception is reduced within the
first 24 hr, but the mortality rate rises rapidly after this time, especially after
the second day. Spontaneous reduction during preparation for operation is not
uncommon. 7
Recurrence rate of intussusception after nonoperative reduction is usually less
than 10% but has been reported to be as high as 21%. Most intussusceptions
recur within 72 hours of the initial event; however, recurrences have been
reported as long as 36 months later. More than one recurrence suggests the
presence of a lead point. A recurrence is usually heralded by the onset of the
same symptoms as appeared during the initial event. Provide similar
treatment for a recurrence unless the suggestion of a lead point is very strong;
in which case, contemplate surgical exploration. The recurrence rates after air
enema and barium enema are 4% and 10% respectively. Recurrences respond
to nonoperative reduction in almost 95% of cases. 6
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CHAPTER V
SUMMARY
Cleft lip and palate is common among congenital anomalies. Several risk factors of
this disorder are ethnicity, family history, maternal exposure to environmental
factors, maternal diet that cause the formation of cleft lip as well as gender. The
genetic factor gives predisposition to this disease, but exposure to environmental
factors trigger the occurrence. Epidemiological data suggests that in general, all
typical orofacial cleft types combined occur in white populations with a frequency of
1 per 500-550 live births. Failure of merging between the medial nasal and maxillary
processes at 5 weeks' gestation, on one or both sides, results in cleft lip.If the fusion
of palatal shelves is impaired also, the cleft lip is accompanied by cleft palate,
forming the cleft lip and palate abnormality. Traditionally, the diagnosis is made at
the time of birth by physical examination.Cleft lip and palate is very treatable;
however, the kind of treatment depends on the type and severity of the cleft. Speech
problems are usually treated by a speech-language pathologist. After surgical
intervention, most children with a cleft lip and palate can achieve normal appearance,
speech, and eating.
Leukoplakia is a white lesion that, unlike oral candidiasis, cannot be removed by
rubbing the mucosal surface. Several predisposing factor to this disorders are age
older than 65, male, tobacco use and alcohol consumption, and state of diminished
immune system. No etiologic factor can be identified for most persistent oral
leukoplakias (idiopathic leukoplakia), but several causes have been identified, which
are related to the predisposing factors. Patients with idiopathic leukoplakia have the
highest risk of developing cancer. In studies of these patients, 4-17% had malignant
transformation of the lesions in less than 20 years. Leukoplakia has a varied clinical
appearance and its appearance frequently changes over time. Most leukoplakias are
smooth, white plaques (homogeneous leukoplakias), occur on the lip, the buccal
mucosae, or the gingivae. Diagnostic method includes physical examination and oral
biopsy. Some leukoplakias are potentially malignant. A poorer prognosis is noted in
females, nonsmokers, moderate or severe epithelial dysplasia, and lesions in high-
risk sites, such as the floor of the mouth.
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Intussusception is a process in which a segment of intestine invaginates into the
adjoining intestinal lumen, causing bowel obstruction. Several risk factors contribute
to occurrence of this disease,ie. children younger than 1 year, boys, abnormal
intestinal formation at birth, and prior history of intussusception. The cause of most
intussusception is unknown. It is postulated that gastrointestinal infection or the
introduction of new food proteins results in swollen Peyer patches in the terminal
ileum. Two thirds of children with intussusception are younger than 1 year; most
commonly, intussusception occurs in infants aged 5-10 months. There is no
significant difference in the incidence of intussusception is reported between races.
Most series report a slight preponderance of males, with a male-to-female ratio. The
pathogenesis of intussusception is believed to be secondary to an imbalance in the
longitudinal forces along the intestinal wall. In typical cases there is sudden onset, in
a previously well child, of severe paroxysmal colicky pain that recurs at frequent
intervals and is accompanied by straining efforts with legs and knees flexed and loud
cries. The clinical history and physical findings are usually sufficiently typical for
diagnosis. Another tests are plain abdominal radiography (or with contrast) and
ultrasonography. Reduction of an acute intussusception is an emergency procedure
and performed imediately after diagnosis in preparation for possible surgery.
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REFERENCES
1. Marie M Tolarova. Cleft Lip and Palate. [cited 2009 March]. Available from:http://emedicine.medscape.com/article/205231-overview
2. Kirschner R E, LaRossa D. Cleft lip and palate. Otolaryngol Clin North Am2000; 33: 1191-1215.
3. Cohen MM. Etiology and pathogenesis of orofacial clefting. In: Oral andMaxillofacial Surgical Clinics of North America. Vol 12. 2000:379-97.
4. Stephen J. McPhee and Maxine A. Papadakis. Current Medical Diagnosisand Treatment. McGraw Hill 2007. Chapter 8.
5. Crispian Scully. Oral Leukoplakia. eMedicine. [cited 2010 April]. Availablefrom: http://emedicine.medscape.com/article/ 1075448-overview
6. Felix C Blanco.Intussusception. eMedicine. [cited 2010 February]. Availablefrom: http://emedicine.medscape.com/article/196411-overview
7.Richard E Behrman & Robert M Kliegman. 4
th
Edition Essentials ofPediatrics. Philadelphia. W.B. Saunders Company.