Case 4Case 4Group 4

General DataGeneral Data

• Patrick, 2 year old malePatrick, 2 year old male

• From CaviteFrom Cavite

• Referred from General Referred from General Pediatrics Clinic for Pediatrics Clinic for developmental delaydevelopmental delayGenerGener

al Dataal Data

HistoryHistory

• Born at Born at 43 weeks AOG43 weeks AOG via via SVDSVD (spontaneous (spontaneous vaginal delivery)vaginal delivery)

• 29-year old mother G1P1 29-year old mother G1P1 (1001)(1001)

• Lying-in clinic in CaviteLying-in clinic in Cavite

• Regular prenatal checkupsRegular prenatal checkups• At the health centerAt the health center• 3 prenatal UTZ: all normal3 prenatal UTZ: all normal

• (+) excessive vomiting (+) excessive vomiting (3rd & 4th months)(3rd & 4th months)

• (-) history of fever, (-) history of fever, bleeding, hypertensionbleeding, hypertension

historyhistory

• Inadequate Inadequate contractionscontractions during labor during labor

• Born Born limp, cyanotic, limp, cyanotic, meconium-stainedmeconium-stained rushed to a tertiary rushed to a tertiary hospitalhospital

• At the tertiary hospital:At the tertiary hospital:• Intubated, admitted at ICU Intubated, admitted at ICU (for 2 weeks)(for 2 weeks)• Diagnosis: Diagnosis: pneumoniapneumonia• Stayed for another 2 weeksStayed for another 2 weeks

• After 3 days (1 month of After 3 days (1 month of age): age): cough and cough and difficulty of breathing difficulty of breathing brought to PGHbrought to PGH

historyhistory

• PGH: PGH:

• Intubated for 2 daysIntubated for 2 days• Treated for pneumoniaTreated for pneumonia

• After 7 days: dischargedAfter 7 days: discharged

• After 1 week (1.5 After 1 week (1.5 months of age): months of age): readmitted for readmitted for pneumoniapneumonia

• 3 months of age: 3 months of age:

• Poor head controlPoor head control• Closed anterior fontanelClosed anterior fontanel•MicrocephalyMicrocephaly

historyhistory

• Subsequent months:Subsequent months:

•Head lagHead lag• Absence of regardAbsence of regard• Episode of jerkingEpisode of jerking• Stiffening of extremitiesStiffening of extremities (esp. when agitated)(esp. when agitated)

• MilestonesMilestones

• 1 year: vocalization1 year: vocalization• 14 months: Spontaneous smile14 months: Spontaneous smile• 15 months: Appear to listen to 15 months: Appear to listen to soundsound

• 18 months: 18 months: persistence of persistence of stiffening diagnosed as stiffening diagnosed as epilepsyepilepsy

historyhistory

• Respiratory infection: at Respiratory infection: at least once a monthleast once a month•Dyshidrotic eczema: Dyshidrotic eczema: diagnosed at 1 yr. of agediagnosed at 1 yr. of age

other other medicamedical l probleproblemsms

• (-) similar (-) similar neurodevelopmental neurodevelopmental illnessillness

• (+) Asthma: mother and (+) Asthma: mother and materal auntmateral aunt

• (+) HPN: maternal (+) HPN: maternal grandmothergrandmother

familyfamilyhistoryhistory

• FatherFather

•29 years old•Security guard•High school graduate

• MotherMother

•30 years old•Housewife•High school graduate

• BrotherBrother

•8 years old•Grade 3 student

personpersonal/al/social social historyhistory

• 0-3 months: breastfed0-3 months: breastfed

• Then gven Bonna at 1:2 Then gven Bonna at 1:2 dilutiondilution

• (+) regurgitation of milk(+) regurgitation of milk

• 6 months: given cereal 6 months: given cereal thrusted out thrusted out ricewater ricewater (“am”) + milk instead(“am”) + milk instead

• Currently on Bonamil + amCurrently on Bonamil + am

•6oz. Nine times/day•Slightly thickened solution

nutritionutrition n historyhistory

• 0-3 months: breastfed0-3 months: breastfed

• Then gven Bonna at 1:2 Then gven Bonna at 1:2 dilutiondilution

• (+) regurgitation of milk(+) regurgitation of milk

• 6 months: given cereal 6 months: given cereal thrusted out thrusted out ricewater ricewater (“am”) + milk instead(“am”) + milk instead

• Currently on Bonamil + amCurrently on Bonamil + am

•6oz. Nine times/day•Slightly thickened solution

nutritionutrition n historyhistory

Physical ExamPhysical Exam

physical examphysical exam

PARAMETERPARAMETER PATIENT VALUESPATIENT VALUESNORMAL VALUESNORMAL VALUES

(1- 3 y.o.)(1- 3 y.o.)INTERPRETATIONINTERPRETATION

Respiratory RateRespiratory Rate 40 breaths/min 20-30 Tachypneic

TemperatureTemperature Afebrile

WeightWeight7.7 Kg

(<5th percentile)≈ 12 Kg Moderate wasting

HeightHeight73 cm

(<5th percentile)≈ 92 cm Moderate stunting

Head Head circumferencecircumference

35 cm 45-50 cm microcephaly

physicaphysical examl exam

FINDINGS INTERPRETATION

Closed fontanellesPremature closure at 3

months(Normal: 18 months)

Flattened occiputMinimal head movement due to poor head control

AnkyloglossiaToungue-tied – decreased

mobility and oromotor dysfunction

(+) thick mucoid nasal secretions

Aspiration Pneumonia because of oromotor

dysfunction

Equal chest expansionOccasional retractions

(+) rhonchi on both lung fields

Stiff extremities HypertonicNormal cardiovascular exam Normal

Normal genitalia Normal(+) discrete macupapular

erythematous lesionsEczema?

Neurologic ExamNeurologic Exam

ParameterParameter Pertinent FindingsPertinent Findings InterpretationInterpretationSensoriumSensorium Hyperalert

Smiles without regard Delayed for age

Cranial NervesCranial Nerves No dazzle (Shining a bright light into the eye should cause squinting)

No visual tracking(+) Doll’s eye ---oculocephalic reflex

No facial asymmetry

Cortical blindnessIntact oculocephalic reflex

(As an individual turns their head to the right, the eyes will deviate

left top stay focused on the same target)

MotorMotor Spastic on all extremitiesFlexion contractures

Spontaneous non-purposeful movements on all extremities

Spastic quadriplegia

ReflexesReflexes DTR +++ : hyperreflexia (normal is ++)(+) bilateral Babinski (may be normal)

Asymmetric tonic neck reflexNo clonus

UMN lesionUMN lesion

Persistence of 1O reflex

neurologic examneurologic exam

DomainDomain Patient’s SkillPatient’s Skill Appropriate AgeAppropriate Age InterpretationInterpretation

Gross motorGross motor No head control 3 months

Development is delayed

Fine motorFine motor No visual tracking (following objects)

6 months

Receptive languageReceptive language Quietens to sound and voice

12 months

Expressive languageExpressive language Vocalizes 2 months

Social/ AdaptiveSocial/ Adaptive Smiles spontaneously 1 month

neurologic examneurologic exam

DifferentialsDifferentials

Rule in

– Risk factors present:• Post-maturity (43 mos AOG and difficult delivery resulting to asphyxia• Limp, cyanotic and meconium-stained upon delivery

– Motor symptoms present:• Weak swallowing → aspiration/regurgitation → recurrent pneumonia• Poor head control and lag• Jerking and stiffening of extremities• Spastic on all extremities with flexion contractures and non-purposeful

movements• No visual tracking• DTR +3• (+) Bilateral Babinski, Asymmetric tonic neck reflex, Moro reflex

– Cognitive Symptoms and Developmental Delays present:• Absence of regard• Able to vocalize only at 1 year• Smiled spontaneously only at 1 year and 2 months• (+) failure to thrive

Cerebral PalsyCerebral Palsy

Rule in Rule out

– Features present:• (+) microcephaly• Short stature• Previous diagnosis of

epilepsy– Motor symptoms present:

• Tonic-clonic seizures (Jerking and stiffening of extremities)

• Repeated bouts of pneumonia

– Absence or associated abnormalities and facial features: upslanted eyes, puffy eyelids, simian crease, small ears, flat nasal bridge, cardiac problems

– Absence of poor muscle tone and hyperextensible joints

Down’s SyndromeDown’s Syndrome

Rule in Rule out

– Upper motor neuron weakness with associated pyramidal signs: spasticity, hyperreflexia, (+) Babinski

– No visual tracking → optic neuritis– Cognitive dysfunction

• Absence of regard• Vocalize only at 1yr• Spontaneous smile only at 1yr

and 2 mos

Cannot be ruled out

Infantile Multiple Infantile Multiple SclerosisSclerosis

Rule in Rule out

– Motor features:• Poor head control and lag• Involuntary movements

– Non-motor features:• Cognitive impairment

• Absence of cardinal signs: rest tremor, rigidity (hypotonic), bradykinesia

Infantile ParkinsonismInfantile Parkinsonism

Differential Rule in Rule out

Duchenne and Becker Muscular Dystrophy

• Poor head control• Intellectual impairment• Weak respiratory

muscles → frequent pulmonary infections

• Weak pharyngeal muscles → aspiration and pneumonia

• Flexion contractures

• Duchenne and Becker patients are rarely hypotonic at birth

• Duchenne and Becker patients can walk at 1 year

• Muscle spasms do not occur in Duchenne and Becker

• No evidence of cardiomyopathy

Congenital Muscular Dystrophy

• (+) presence of contractures

• (+) hypotonia at birth• (+) poor head control• (+) microcephaly

• Pharyngeal weakness is uncommon for this illness

• Deep tendon reflexes are hypoactive or absent in this condition

Muscular Dystrophies Muscular Dystrophies

Rule in Rule out

• Malformations at the base of the skull may explain symptoms of quadriplegia and involvement of eye movement pathways

• Episodes of jerking and stiffening of extremities; onset of symptoms at 3 months of age

Congenital Malformations Congenital Malformations

Differentials Rule in Rule out

Phenylketonuria • Vomiting, non-purposeful movements, microcephaly, eczematous rash, hypertonic, growth retardation

• No mention of mousy odor, no family history of similar symptoms, cannot explain recurrent pulmonary infections

Tyrosine Hydroxylase Deficiency (Infantile Parkinsonism)

• Jerky movements of the limbs, spasticity, rigidity

• Not tremors, cannot explain recurrent pulmonary infections, microcephaly and poor head control; no family history of similar symptoms

Metabolic DiseasesMetabolic Diseases

Differentials Rule in Rule out

Biotinidase deficiency • Immunodeficiency (recurrent pulmonary infections), dermatitis (dyshidrotic eczema), developmental delay, poor head control, myoclonic seizure

• Spasticity; cannot explain microcephaly; no family history of similar symptoms

Methylenetetrahydrofolate Reductase (MTHFR) deficiency Homocystinuria

• Spasticity, microcephaly, developmental delay

• (-) convulsions; Pulmonary infections unexplained, poor head control, Fam Hx?

Creatinine Deficiency • Developmental delay, (-) active speech, hypertonia, dyskinetic movements

• Growth retardation; Pulmonary infections unexplained, microcephaly & poor head control, Fam Hx?

Metabolic DiseasesMetabolic Diseases

Differentials Rule in Rule out

Cord TransectionSpinal Cord Traction Injury during delivery

• Mother’s contractions during delivery not sufficient

• (+) Response to pain

Spinal muscular atrophy Type 2 (Chronic infantile form)

• Pt is within age range (6-18 mos.) when symptoms became manifest

• Glaring developmental motor delay

• Pulmonary infections explained

• (-) Pseudohypertrophy of gastrocnemius, MSK deformities

• (-) postural finger tremors

Spinal Cord LesionsSpinal Cord Lesions

Cerebral PalsyCerebral Palsy

• Describes a group of disorders Describes a group of disorders of movement and posture, of movement and posture, limiting activity, attributed to limiting activity, attributed to non-progressive underlying non-progressive underlying brain pathology. brain pathology.

• The motor disorders of CP are The motor disorders of CP are often accompanied by often accompanied by disturbances of sensation, disturbances of sensation, cognition, communication, cognition, communication, perception, and/or behavior, perception, and/or behavior, or by a seizure disorder.or by a seizure disorder.

• Brain lesions of CP occur from Brain lesions of CP occur from the fetal or neonatal period to the fetal or neonatal period to up to age 3 yearsup to age 3 years

CerebrCerebral al PalsyPalsy

• The etiology of CP is not well The etiology of CP is not well understood and is thought to understood and is thought to be associated with prenatal, be associated with prenatal, perinatal, or postnatal events perinatal, or postnatal events of varying causes.of varying causes.

• Risk factors for CP are Risk factors for CP are multifactorial.multifactorial.

• PrevalencePrevalence

• In developed countries: about 2-In developed countries: about 2-2.5 cases per 1000 live births2.5 cases per 1000 live births

• In developing countries: about In developing countries: about 1.5-5.6 cases per 1000 live 1.5-5.6 cases per 1000 live births.births.

CerebraCerebral Palsyl Palsy

Clinical Presentations of Clinical Presentations of Cerebral PalsyCerebral Palsy

• Failure to meet expected Failure to meet expected developmental milestones developmental milestones or failing to suppress or failing to suppress obligatory primitive reflexes.obligatory primitive reflexes.

• Abnormalities in muscle tone. Abnormalities in muscle tone.

• Definite hand preference Definite hand preference before age 1 year is a red before age 1 year is a red flag for possible hemiplegia.flag for possible hemiplegia.

• Asymmetric crawling or Asymmetric crawling or failure to crawl also may failure to crawl also may suggest cerebral palsy.suggest cerebral palsy.

• Joint contractures secondary to Joint contractures secondary to spastic musclesspastic muscles

• Hypotonic to spastic toneHypotonic to spastic tone

• Growth delayGrowth delay

• Persistent primitive reflexes Persistent primitive reflexes

• Gait pattern abnormalitiesGait pattern abnormalities

• Hip - Excessive flexion, adduction, and femoral anteversion • Knee - Flexion and extension with valgus or varus stress occur.• Foot - Equinus, or toe walking, and varus or valgus of the hindfoot

• Spastic (70-80%) Spastic (70-80%) – Increased – Increased deep tendon reflexes, sustained deep tendon reflexes, sustained clonus, hypertonia, and the clasp-clonus, hypertonia, and the clasp-knife responseknife response

• Dyskinetic (10-15%) Dyskinetic (10-15%) – – Fluctuating tone, rigid total body Fluctuating tone, rigid total body involvement by definition. involvement by definition. Persistent primitive reflex Persistent primitive reflex patterns (asymmetric tonic neck patterns (asymmetric tonic neck reflex, labyrinthine)reflex, labyrinthine)

• Ataxic (<5%) Ataxic (<5%) – characterized by – characterized by cerebellar signs (ataxia, cerebellar signs (ataxia, dysmetria, past pointing, tremor, dysmetria, past pointing, tremor, nystagmus) and abnormalities of nystagmus) and abnormalities of voluntary movementvoluntary movement

• Mixed - no single specific Mixed - no single specific tonal quality predominating; tonal quality predominating; mixture of spastic and mixture of spastic and dyskinetic componentsdyskinetic components

• Hypotonic - truncal and Hypotonic - truncal and extremity hypotonia with extremity hypotonia with hyperreflexia and persistent hyperreflexia and persistent primitive reflexes; thought to primitive reflexes; thought to be rarebe rare

• Sensory:Sensory:• Sensorineural and conductive Sensorineural and conductive

hearing losshearing loss

• Impaired visual acuityImpaired visual acuity

• Oculomotor dysfunctionOculomotor dysfunction

• StrabismusStrabismus

• Cortical visual impairmentCortical visual impairment

• Somatosensory impairmentsSomatosensory impairments

• Neurologic:Neurologic:• SeizuresSeizures

• HydrocephalusHydrocephalus

• Cognitive and linguistic:Cognitive and linguistic:• Mental retardationMental retardation

• High incidence of language and High incidence of language and learning disabilitieslearning disabilities

• DysarthriaDysarthria

• Attention deficit hyperactivity Attention deficit hyperactivity disorderdisorder

• Sleep and behavioral Sleep and behavioral disturbancesdisturbances

• Musculoskeletal:Musculoskeletal:• ContracturesContractures

• Hip dislocationHip dislocation

• scoliosisscoliosis

• Cardiorespiratory:Cardiorespiratory:• Upper airway obstructionUpper airway obstruction

• Aspiration pneumonitisAspiration pneumonitis

• GI/Nutritional:GI/Nutritional:• Poor growthPoor growth

• Gastroesophageal refluxGastroesophageal reflux

• ConstipationConstipation

• Dysphagia Dysphagia

Pathophysiology of Cerebral Pathophysiology of Cerebral PalsyPalsy

• <10% children with CP: <10% children with CP: evidence of intrapartum evidence of intrapartum asphyxiaasphyxia

• Associated with increased risk Associated with increased risk of CP in normal birthweight of CP in normal birthweight infants: intrauterine exposure infants: intrauterine exposure to maternal infectionto maternal infection

• Prevalence of CP is increased Prevalence of CP is increased among low birthweight infants, among low birthweight infants, particularly those weighing particularly those weighing <1,000 g at birth : because of <1,000 g at birth : because of intracerebral haemorrhage and intracerebral haemorrhage and periventricular leukomalacia periventricular leukomalacia (PVL)(PVL)

• Believed to be caused by non-Believed to be caused by non-progressive disturbances in the progressive disturbances in the immature and still developing immature and still developing fetal or infant brainfetal or infant brain

• Insult to immature brain (before Insult to immature brain (before birth to postnatal period) birth to postnatal period) if if immediately after postnatal period immediately after postnatal period may be due to hypoxic-ischemic may be due to hypoxic-ischemic encephalopathy encephalopathy cerebral insult cerebral insult altered muscle tone, muscle altered muscle tone, muscle stretch reflexes, primitive reflexes, stretch reflexes, primitive reflexes, postural ractionspostural ractions

• Cerebral insults may be vascular, Cerebral insults may be vascular, hypoxic-ischemic, metabolic, hypoxic-ischemic, metabolic, infectious, toxic, teratogenic, infectious, toxic, teratogenic, traumatic, and genetic in naturetraumatic, and genetic in nature

Classification of Cerebral PalsyClassification of Cerebral PalsyMOTOR SYNDROME

NEUROPATHY MAJOR CAUSES

Spastic Diplegia • Periventricular• Leukomalacia

(periventricular leukomlacic [PVL])

• Prematurity• Ischemia• Infection• Endocrine/metabolic (e.g.,

thyroid)

Spastic Quadriplegia

• PVL• Multicystic

encephalomalacia• Malformations

• Ischemia• Infection• Endocrine/metabolic• Genetic/developmental

Hemiplegia • Stoke: in utero or neonatal

• Thrombophilic disorders• Infection• Genetic/developmental• Periventricular hemorrhagic

infearction

Extrapyramidal (athetoid, dyskenetic)

• Basal ganglia• Pathology: putamen,

globus pallidus, thalamus

• Asphyxia• Kernicterus• Mitochondrial• Genetic/metabolic

• Spastic HemiplegiaSpastic Hemiplegia

• focal cerebral infarction secondary to intrauterine or perinatal thromboembolism related to thrombophilic disorders, especially anticardiolipin antibodies, is an important cause

• Spastic DiplegiaSpastic Diplegia

• the most common neuropathologic finding is periventricular leukomalacia, particularly in the area where fibers innervating the legs course through the internal capsule

• Spastic QuadriplegiaSpastic Quadriplegia

•most severe form of CP; swallowing difficulties are common as a result of supranuclear bulbar palsies, often leading to aspiration• the most common lesions seen are severe PVL and multicystic cortical encephalomalacia

• Athetoid/Chorioathetoid/ Athetoid/Chorioathetoid/ Extraoyramidal CPExtraoyramidal CP

• if secondary to acute intrapartum near-total asphyxia is associated with bilateral symmetric lesions in the posterior putamen and ventrolateral thalamus

TreatmentTreatment

• Goal:Goal:

• to maximize the functional use of limbs and ambulation• to reduce the risk of contractures• to help the patient in attaining his greatest potential physically, mentally and socially

• Physical therapy – to develop Physical therapy – to develop muscle strength, flexibility and muscle strength, flexibility and strength strength

• Occupational therapy – to help Occupational therapy – to help learn physical skills needed to learn physical skills needed to function in everyday lifefunction in everyday life

• Recreational therapyRecreational therapy

• Orthotic devices such as ankle Orthotic devices such as ankle foot orthosesfoot orthoses

• Speech therapy – to overcome Speech therapy – to overcome speech problemsspeech problems

• PsychotherapyPsychotherapy

• Teach the parents how to Teach the parents how to work with their child in daily work with their child in daily activities such as feeding, activities such as feeding, dressing, bathing, and dressing, bathing, and playing in ways that limit the playing in ways that limit the effects of abnormal muscle effects of abnormal muscle tone.tone.

• Instruct the parents in the Instruct the parents in the supervision of a series of supervision of a series of exercises designed to exercises designed to prevent the development of prevent the development of contractures, especially a contractures, especially a tight Achilles tendon.tight Achilles tendon.

• Use walkers, poles, and Use walkers, poles, and standing framesstanding frames

• Surgery may be considered Surgery may be considered to reduce muscle spasm to reduce muscle spasm around the hip girdle around the hip girdle (adductor tenotomy or psoas (adductor tenotomy or psoas transfer and release)transfer and release)

• Rhizotomy procedure – roots Rhizotomy procedure – roots of the spinal nerves are of the spinal nerves are divided, produces divided, produces considerable improvement in considerable improvement in some patientssome patients

• A tight heel cord may be A tight heel cord may be treated by tenotomy of the treated by tenotomy of the Achilles tendonAchilles tendon

• Constraints can be applied to Constraints can be applied to the unaffected side – this the unaffected side – this induces improved hand and induces improved hand and arm functioning on the arm functioning on the affected side. This is effective affected side. This is effective in patients of all ages.in patients of all ages.

• Use motorized wheelchairs, Use motorized wheelchairs, special feeding devices, special feeding devices, modified typewriters, and modified typewriters, and customized seating customized seating arrangementsarrangements

• To correctTo correct anatomical anatomical abnormalities or release tight abnormalities or release tight musclesmuscles

• To help repair dislocated hips and To help repair dislocated hips and scoliosis (curvature of the spine)scoliosis (curvature of the spine)

• Dorsal rhizotomy (for severe Dorsal rhizotomy (for severe spastic diplegia)spastic diplegia)• Cut specific nerves at their roots to reduce spasticity

• Stereotactic surgery Stereotactic surgery • To improve rigidity, athetosis and tremors

• Reconstructive surgery to an armReconstructive surgery to an arm• To restore muscle balance, release contractures, and stabilize joints

• Goal of pharmacotherapy is Goal of pharmacotherapy is to reduce symptoms (e.g. to reduce symptoms (e.g. spasticity) and prevent spasticity) and prevent complications (e.g. complications (e.g. contractures)contractures)

• 2 types of medications2 types of medications• For spasticity and abnormal movement• For seizures

• Dopaminergic drugsDopaminergic drugs• increase dopamine levels to decrease rigidity and abnormal movements• E.g. levodopa/carbidopa

• Muscle relaxantsMuscle relaxants• Botulinium toxin A: causes mild muscle paralysis and reduce contractions• Baclofen: controls muscle contractions and relaxes tight muscles, but lowers seizure threshold• Benzodiazepines (valium) – sedation is a side-effect• Oral dantrolene sodium• Need constant follow-up

• AnticonvulsantsAnticonvulsants• Used to terminate clinical and electrical seizure activity as rapidly as possible• Prevent seizure recurrence

• Phenobarbital or phenytoinPhenobarbital or phenytoin• Effective against partial seizures

• BenzodiazepinesBenzodiazepines• Used in acute management of seizures

• Important to identify and manage Important to identify and manage behavioral problems early - work behavioral problems early - work with a psychologist or psychiatristwith a psychologist or psychiatrist

• Learning and attention deficit Learning and attention deficit disorders, and mental retardation disorders, and mental retardation – assessed and managed by a – assessed and managed by a psychologist and educatorpsychologist and educator

• Strabismus, nystagmus, and optic Strabismus, nystagmus, and optic atrophy are common – consult an atrophy are common – consult an ophthalmologistophthalmologist

• Promptly assess and treat lower Promptly assess and treat lower urinary tract dysfunctionurinary tract dysfunction

• Communication - Use Communication - Use Blissymbolics, talking typewriters, Blissymbolics, talking typewriters, and specially adapted computersand specially adapted computers

• Nelson’s Textbook of Pediatrics 18th ed.• http://www.emedicinehealth.com/cerebral_palsy• http://emedicine.medscape.com