Pediatric Neuro MDM 40 (2).pdf

page Content ‫ﲰﺎﻉ ﻣﺬﺍﻛﺮﺓ‬ 2 Encephalopathies 6 Floppy infant 8 Muscle diseases 13 Seizures 20 Abnormal cranial volume and shape 24 Craniostenosis 1  Definition  Generalized dis...

page Content ‫ﲰﺎﻉ ﻣﺬﺍﻛﺮﺓ‬ 2 Encephalopathies 6 Floppy infant 8 Muscle diseases 13 Seizures 20 Abnormal cranial volume and shape 24 Craniostenosis 1  Definition  Generalized disorder of cerebral function which may be acute or chronic progressive or static  Causes  Infections, toxic (e.g. lead), metabolic and ischemic. Cerebral palsy (Little's Disease)  It is an encephalopathy resulting from malfunction of motor unit of the developing brain due to brain insult during prenatal , natal and postnatal periods → central motor deficit non progressive ,non familial , non-hereditary may be associated with , mental retardation ,epilepsy ,visual defect , deafness , speech defect.  Etiology  Prenatal (80%): TORCH infection, teratogens, intrauterine hypoxia.  Perinatal (10%): birth asphyxia, birth trauma, IC hemorrhage.  Postnatal (10 %): kernicterus, meningitis, encephalitis, IC hemorrhage.  Classifications ► Topographic (Anatomic) classifications :  Hemiplegia: Arm & Leg on same side of body (R or L)  Diplegia: Arms and Legs but legs more involved  Quadriplegia or Tetraplegia : Arms and Legs equally involved or Arms more involved than legs  Remaining terms describe rare limb patterns  Monoplegia: One limb  Triplegia: Three limbs  Paraplegia: Only legs involved 2 ► Physiological classification (according to the major motor abnormalities)  Hypertonia with hyperreflexia Spastic CP  Positive Babinski sign (extensor plantar response) (70 to 80% )  Persistent primitive reflexes  Abnormal movements and/or change in tone (increased or decreased).  Rigidity: hypertonia with hyporeflexia or normal reflexes.  Chorea: quick irregular dysrythmic movements involve proximal skeletal muscles. Dyskinetic CP  Athetosis: slow twisting movements, usually along long axis of a limb, (10 to 20%) more prominent distally.  Choreoathetosis: Chorea and Athetosis are commonly seen.  Dystonia: painful sustained contraction of a muscle group's → prolonged, twisting, posturing of the face, limb or trunk, which involved. Ataxic CP  Disturbances in balance and equilibrium: walk unsteadily, poor (5 to 10%) coordination and balance often with hypotonia, hyporeflexia, nystagmus. Atonic CP:  Floppy infant with hyperreflexia, usually with marked mental (hypotonic) retardation. Mixed forms  spasticity and ataxia may coexist. ► Functional classification  Class 1: No limitation of activity.  Class 2: Slight to moderate limitation.  Class 3: Moderate to great limitation.  Class 4: No useful physical activity. 3  Early detection of cerebral palsy ► The diagnosis of cerebral palsy could be suspected with:  History of risk factors:  Rubella , toxoplasmosis in the first trimester.  Neonatal jaundice , convulsions.  Developmental observation:  Delayed motor milestones: Any infant who is not active as expected, who moves one limb less than the other or keeps his hand clenched after age of 3 month.  Feeding problems, drooling.  Poor quality of sleep.  On ventral suspension → U shaped → floppy infant  Early sign of spasticity → difficulty of abduction of the thighs during change of diaper  Early sign of spasticity → early neck support  Persistence of neonatal reflexes:  Moro reflex after 6 months  Grasp reflex after 4 months  Asymmetric tonic neck reflex after 3 months  A child in supine position and not crying → passive rotation of the head to one side → extension of limbs on the same side and flexion of contralateral limbs → persistent of this reflex prevent the infant from rolling from prone to supine and vice versa  Diagnosis of cerebral palsy:  Should include: etiology, topography, physiology, functional classification and associated deficits (MR, hearing, speech and visual disorders, epilepsy).  Prevention of cerebral palsy  Preterm and LBW birth prevention  Prevention of birth asphyxia  Iodine , Iron supplementation in pregnancy and lactation  Control of diabetes  Prevention of unnecessary X-rays, drugs, medications in pregnancy  Exposure to virus/infections prevention in pregnancy and infancy 4  Management of cerebral palsy  A team of physicians: pediatricians, occupational and physical therapists, social worker, speech pathologists  The role of pediatrician is:  Treatment of comorbidities (seizures, malnutrition, spasticity)  Supervising nutritional status  To prescribe muscles relaxants (for muscles spasticity) , sedatives (to reduce sleep and decrease irritability)  To explain with the help of the social workers and psychiatrist the nature of the disease to the family to ensure better cooperation  Refer to orthopedic surgery to correct deformities , provide stability and rehabilitation Normal motor milestones and patterns of abnormal motor development. Cerebral palsy (hemiplegia or quadriplegia) is the commonest cause of developmental problems 5  Definition  Sever persistent hypotonia present at birth or early infancy  Causes  Cerebral o Perinatal asphyxia. o Kernicterus. o Cerebral palsy (atonic type).  Chromosomal anomalies: including down syndrome.  Spinal cord lesion o Anterior horn cell disease (Werding Hoffman spinal muscular atrophy). o Early extensive poliomyelitis.  Peripheral nerves o Acute polyneuropathy. o Guillain Barre Syndrome (GBS) o Congenital sensory neuropathy.  Neuromuscular o Neonatal myasthenia gravis o Infantile botulism  Myopathies o Muscular dystrophies. o Congenital myopathies. o Polymyositis. 6  Diagnosis of Floppy infant  Diagnosis of severe hypotonia depends on the presence of the following signs:  Frog leg position: denotes hypotonia of lower limbs.  Head lag: when the baby is pulled up from his hands, while in supine position, the head lags backwards → denotes hypotonia of neck muscles.  Curved trunk on ventral suspension: When the baby is suspended in prone position over the examiner's hand → drops around it → denotes hypotonia of trunk muscles.  Slippage on vertical suspension: denotes hypotonia of shoulder girdle muscles  Diagnosis the cause of hypotonia : The following criteria are suggestive Cerebral hypotonia  Abnormal brain functions: o Seizures o disturbed conscious level.  Mental retardation.  Dysmorphic features of chromosomal disorders e.g. down syndrome or other.  Hyperreflexia. Lower motor unit disorders  Areflexia or hyporeflexia.  Muscle atrophy & fasciculations.  Total loss of reflexes with residual movements → neuropathy  Diminished reflexes consistent with the degree of muscle weakness → myopathy.  Previous last two conditions are differentiated by doing Nerve conduction velocity and Electroencephalogram. 7  Congenital myopathy  A group of congenital muscle diseases cause by abnormalities during embryonic development of muscles, some of them is fatal while the others are non-progressive.  Clinical picture  Bilateral, symmetrical, proximal more than distal → hypotonia, hyporeflexia  Muscle wasting.  Joints contracture, variable ocular, facial and respiratory weakness.  Muscular dystrophies  Endocrine myopathy: o Thyroid myopathies o parathyroid myopathies o steroid induced myopathies.  They are a group of muscle diseases characterized by four obligatory criteria: o Primary myopathy. o Progressive. o Genetic basis. o Characteristic muscle fiber degeneration and muscle cell death at some stage.  Classification:  Pelvic girdle type: pseudo hypertrophic types → Duchenne and Becker.  Shoulder girdle type: Scapulohumeral or scapuloperoneal.  Limb girdle type.  Myotonic dystrophy.  Congenital muscular dystrophy. 8 ► Duchenne muscle dystrophy:  It is the commonest type of dystrophy, XLR disorder, due to a defect in a protein called dystrophin of the skeletal muscle, cardiac muscle and the brain.  Clinical picture:  Sex: usually male  Age: usually 3-5 years  Main characteristic features :  Weakness: bilateral symmetrical , proximal > distal , with no sensory manifestation  Weakness of the shoulder girdle muscles: o unable to raise arm above the head o winging of scapula (weak serratus anterior).  Weakness of pelvic girdle muscles: o Waddling lordotic gait (weak gluteus Medius and Minimus ) o Difficulty climbing up stairs o +ve gower sign.  pseudohypertrophy of the calf muscles ,Deltoid and forearm.  Preserved muscles: o Hand muscles o Extraocular muscle o Urethral and anal sphincter o Diaphragm.  Associated features:  Cardiomyopathy → constant feature  Mental sub normality → frank MR in 25% of cases  Frequent respiratory infections and UTI  The course is gradually progressive:  Most patients unable to walk at 12 years  Death usually occurs by the end of second decade caused by respiratory failure, heart failure. 9  Investigations  Creatine kinase (CK) also known as Creatine phosphokinase (CPK) → markedly elevated  Electromyography (EMG): myopathic pattern  Muscle biopsy is diagnostic: muscle fiber degeneration with replacement with fat and fibrosis.  Prenatal diagnosis: amniocentesis or chorionic villous sampling: genetic diagnosis  Detection of female carrier: high serum creatine phosphokinase (CPK)  Treatment  No specific treatment.  Adequate nutrition, treatment of complications.  Treatment under trials: gene therapy, myoblast transfer.  X-linked recessive disease of late onset during late childhood , slowly progressive course and a longer time of survival → due to dysfunctioning dystrophin or is insufficient production of dystrophin, a protein that helps keep muscle cells intact Pseudo hypertrophic types of myopathies 10   Disease is inherited as an autosomal due to primary degeneration and atrophy of AHC and motor nuclei of brain stem → lower motor neuron weakness  It is characterized by marked hypotonia, sluggish fetal movement, and fasciculation of tongue. The child is alert.  Feeding behavior and cry are poor.  Deep tendon reflexes are absent.  Muscle biopsy shows neurogenic type of atrophy or the muscle spindles are atrophied in groups.  Death occurs by 2-4 years of age.  Treatment supportive  Caused by: polioviruses, which affect AHC and motor nuclei of brain stem → lower motor neuron weakness.  Criteria of weakness and paralysis  Acute onset  lower motor neuron weakness  Asymmetrical and spotty distribution → affecting mainly large muscle groups  No sensory loss  The course is maximum in the first few days then some regression may occur  Treatment  Acute stage: isolation and supportive treatment.  Chronic stage: physiotherapy and orthopedic management.  GBS is defined as: Post infectious polyneuropathy that cause demyelination in mainly motor nerves but sometimes also sensory and autonomic nerves 11   May occur in about 12 % of the babies born to mothers with the disease.  It is characterized by marked hypotonia, pooling of oral secretions, poor feeding, feeble cry and generalized muscle weakness appearing within 2-3 days after the birth, Baby is alert.  Facial weakness manifests by, open mouth and staring look.  External ophthalmoplegia and ptosis are rare.  Deep tendon reflexes are normal.  Electromyography is characterized by fluctuating and fatigable weakness. The weakness is often worse with activity and improved by rest, it is often worse in the evening  Electromyography is characterized by improvement in the muscle functions following intramuscular injection of Edrophonium chloride 1 mg or neostigmine methyl sulfate 0.1 mg.  The child is treated with neostigmine methyl sulphate 0.1 to 0.5 mg IM 10 minutes before each feed for 1 or 2 days followed by neostigmine bromide, 1 to 4 mg orally half an hour before each feed.  Classification Primary inability to walk: (No walk till age 18 months) Paralytic causes Non paralytic causes  Brain: o Mental retardation o Cerebral palsy o Rickets o Hydrocephalus.  Spinal cord: o Severe malnutrition o Poliomyelitis o Werding Hoffman disease. Secondary inability to walk Paralytic causes Non paralytic causes  Brain: Postmeningetic, postencephalytic.  Debilitating diseases:  Spinal cord: o Uremia o Cord trauma. o Malignancy o Transverse myelitis.  Peripheral neuropathy: GBS  Muscle diseases: Muscle dystrophies. 12  Seizure: Paroxysmal bouts of electrical activities of the brain manifested by impaired consciousness, motor, sensory, psychic or autonomic manifestations.  Convulsion: It is a motor seizure.  Epilepsy: Recurrent chronic unprovoked seizures (2 or more, at least 24 hr. apart) unrelated to fever or acute cerebral insult.  Classification of seizures Acute convulsions (non-recurrent) Recurrent convulsions  febrile convulsions:  Primary (idiopathic) : 80 % o CNS infections: meningitis, encephalitis and brain abscess  secondary (organic) : 20%  Metabolic disorders:  Inborn error of metabolism: galctosemia , o hypoglycemia o hyponatremia phenylketonuria o hypernatremia  Brain tumors. o hypocalcemia  Encephalopathy: hypertensive  Posttraumatic , postmeningetic encephalopathy, uremic encephalopathy.  Head trauma: Intracranial hemorrhage  Brain tumors  First attack of epilepsy  International classification of epilepsy Partial (foal) seizures  Focal seizures, without impairment of consciousness (aware) : o Motor o Sensory o Autonomic  Focal seizures, with impairment of awareness.  Focal to bilateral tonic clonic seizures. Generalized seizures  Absence seizures: Typical absence, atypical absence  Myoclonic seizures  Tonic seizures  Clonic seizures  Tonic-clonic seizures  Infant spasm , tonic-spasm  Atonic seizures 13   Typical (simple): o Sudden cessation of motor activity with blank facial expression and eyelids Absence flickering with no loss of body tone and no falling down. seizures o May be countless attacks per day, < 30 seconds. (petit mal) o Hyperventilation (for 3-4 min) provokes an absence attacks. o EEG: typical 3/sec spike generalized wave discharge.  Complex type: simple with motor component.  May start generalized or follow a partial seizure with secondary generalization  An aura may be present suggest focal origin: Headache, unpleasant feelings, chest discomfort. Generalized  Precipitating factors: including infections, fever, and emotional stress. tonic clonic  Tonic phase: sudden loss of consciousness , tonic contractions, apnea, seizures cyanosis and eye rolling  Clonic phase: rhythmic clonic contractions with tongue biting and incontinence  Post ictal: (30 min – 2 hours) the child feels headache, confusion, and ataxia or remains in deep sleep. Atonic seizure  Sudden loss of consciousness and loss of body tone → falling down Myoclonic  Sudden shock like movements of extremities and trunk without loss of epilepsies consciousness (symmetrical contraction of groups of muscles)  Onset: 4-8 month  Spasms: occurs in clusters of 3 types.  Flexor: sudden flexion of neck ,arms and legs  Extensor : extension of arms and extremities Infantile  Mixed : extensor in some and flexion in others spasms  EEG: hypsarrhythmia ( chaotic high voltage slow waves ) (west syndrome)  Causes: o Cryptogenic 20 %: good prognosis o Secondary 80 %: associated with mental retardation due to brain hypoxia, congenital infections, inborne error of metabolism  Treatment: specific treatment o ACTH: to suppress CRH → decrease neuronal excitability. o Clonazepam. 14  Phenobarbital  Oral dose 3-5 mg/kg/day (Sominaletta)  Side effects: decreased cognitive functions Phenytoin  Oral dose 3-8 mg/kg/day (Epanutin)  Side effects: gum hypertrophy , hirsutism. Ethosuximide  Used in petit mal epilepsy ( Zarotin & Ethoxa )  Oral dose 20 mg/kg/day  Side effects: nausea, headache. Clonazepam  Effective in myoclonic epilepsy (Rivotril)  Oral dose 0.05-0.2 mg/kg/day Carbamazepine  Used in grand mal epilepsy , partial epilepsy (Tegretol)  Oral dose 10- 20 mg/kg/day  Used in grand mal epilepsy, petit mal epilepsy and myoclonic epilepsy. Valproic acid  Oral dose 10-60 mg/kg/day (Depakine)  Side effects: Hepatotoxicity (do liver function tests every three months) , alopecia Diazepam  All types especially status epilepticus. (Valium)  Oral dose 0.3 /kg IV & 0.5 mg/kg rectal per dose 15  General rules of use of antiepileptic drugs  A single drug should be used at first: if seizures not controlled: increase the dose gradually until: o Control is achieved or o The maximum dose reached or o Side effects appeared.  If the maximum dose has been reached with no control → check for compliance: o If non compliance: reassure and educate. o If compliance: do serum level:  If it is below the therapeutic range: allow to ↑ the dose till the serum therapeutic level is reached.  If after reaching serum therapeutic levels with significant improvement but not total control → add a second antiepileptic drug.  If after reaching serum therapeutic levels with minimum improvement → withdraw the drug gradually and replace with another antiepileptic.  If side effects appear, gradually withdraw and replace with another antiepileptic.  Treatment continues for 2-3 years after the last epileptic attack with weaning over 3-6 month → never stop anti-epileptic drug suddenly → fatal Status Epilepticus may occur.  Lifelong antiepileptics are given for Organic epilepsy (cerebral palsy) Difficult control  N.B. Healthy child with first attack of convulsion → don't give anticonvulsants especially with normal neurological examination and normal EEG → as 50% of these children will not have another attack 16  Definition  A seizure that lasts longer than 5 minutes, or having more than 1 seizure within a 5 minutes period, without returning to a normal level of consciousness between episodes is called status epilepticus.  This is a medical emergency that may lead to permanent brain damage or death.  Types and Etiology  Prolonged febrile convulsion  Idiopathic Status E. due to sudden withdrawal of anticonvulsants or associated infections  Symptomatic Status Epilepticus: CNS infections.  Metabolic effects: IEM e.g. phenylketonuria, hypoglycemia, hypocalcemia.  Complications  due to excessive release of excitatory neurotransmitters leading to o Acute pathologic changes: petichial hemorrhage, edema and increase in intracranial pressure o Cell damage and necrosis with prolonged seizure → mental retardation, epilepsy, extra pyramidal manifestations.  Treatment  First aid measurements:  Suction, head position, O2.  Rectal diazepam 0.3-0.5 mg/kg (1mg/min ) maximum 10 mg  If there is IV access: IV diazepam 0.3 mg/kg (1mg/min ) maximum 10 mg  Repeat a second dose of diazepam if convulsions recur or if no response in 10 minutes.  If no response start continuous diazepam IV infusion (2-3 mg /kg/hr.).  If no response to diazepam after the first dose try the following in order:  IV phenytoin: loading 15 mg /kg over 30 min followed by 12 hrs latter by maintenance dose 3 mg/kg/12hr  IV Phenobarbital: loading 20 mg /kg over 30 min followed by 12 hrs latter by maintenance dose 5 mg/kg/24hr  N.B. Take care of incidence of respiratory depression if given after diazepam  For refractory cases: induce general anesthesia Thiopental IV, intubation , muscle relaxants and artificial respiration → convulsions monitored by continuous EEG monitoring  Search for the cause: treatment specially for electrolyte disturbance 17  Definition:  Generalized, tonic-clonic seizure associated with a febrile illness, in infancy and childhood but without any CNS infection, severe metabolic disturbance, or other known neurological cause Criteria of febrile convulsion  Susceptible age: 9 mo. up to 5 yrs.  Fever: rapid rising of body temperature or when core temperature reaches 39 C or greater  Convulsions: o Generalized tonic clonic Typical Febrile o Brief (few seconds to 15 minutes) convulsion o One fit during the same illness in 24 h o Usually followed by a short post ictal period of drowsiness  Evident extra cranial infection e.g. tonsilitis , AOM  No signs of CNS infection e.g. meningeal irritation  Risk of epilepsy development: o 1~2% in the general population o increase up to 9% when two or more risk factors are present Atypical Febrile  Focal , repeated during the same illness , prolonged > 15 min convulsion  10% of these cases may develop epilepsy later on  Treatment:  During attacks of convulsions: o First aid measurements : o Head position, O2. o Rectal diazepam 0.3-0.5 mg/kg ( 1mg/min ) maximum 10 mg o Tape water fomentation , tepid sponge bath , antipyretics  Antibiotics and treatment of the cause o Prophylaxis for febrile convulsion: Intermittent diazepam prophylaxis using diazepam syrup at the start of febrile illness 0.3 mg/kg q8h PO (1 mg/kg/d) for the duration of the illness (2~3 days)  N.B: prolonged anticonvulsant prophylaxis is not recommended 18  Risk factors for developing epilepsy in child with febrile convulsion: o Atypical features of the seizure o Positive family history of epilepsy, o An initial febrile seizure before 9 mo. of age o Delayed developmental milestones, or a pre-existing neurologic disorder Conditions that mimic epilepsy  Cyanotic spells: 6 mo. to 5 years  Infant upset → vigorous cry→ forced expiration and apnea → cyanosis and loss of consciousness with or without myoclonic seizures.  Treatment: reassurance + in some case we can try oral iron therapy which can decrease the number of attacks. Breath-holding spells  Pallid spells :  Head trauma→ bradycardia with a period of a systole may be recorded → hypotonia and loss of consciousness with or without tonic seizures  Treatment: reassurance , in refractory cases oral atropine sulphate may be recommended → which increase the heart rate Sleeping  Sleepwalking  Night terrors disturbance  2 months-3 years : rigid posturing Masturbation  Consciousness not impaired  Normal EEG Pseudo seizures  Normal EEG. (Hysterical) Cough syncope  Unawareness with surroundings as in bronchial asthma, hopping cough.  Uncommon before age 10 years.  Due to alteration of brain metabolism due to decreased cerebral blood flow → usually secondary to systemic hypotension. Simple syncope  The mechanism of hypotension is vasovagal stimulation precipitated by pain, fear, excitement.  Recurrent syncopal attacks may be treated by B2 adrenergic blocking agent 19  Head size: Head circumference is determined by measuring the greatest occipitofrontal circumference after three measurements and takes the largest.  Means large in which head circumference greater than 2 standard deviations from normal distribution Cranial causes Intracranial causes  Conditions with thickened skull  Space occupying lesions: Brain tumors , brain o Rickets masses o Chronic hemolytic anemia.  Hydrancephaly: Absence of cerebral hemispheres → replacement by a sac filled with o Osteopetrosis fluid → diagnosed by transillumination test o Osteogenesis imperfecta  Megalencephaly. o Bone dysplasia  Chronic subdural effusion , hematoma  Hydrocephalus Abnormal head shape  Temporal lobe agenesis: narrow cranium Intracranial  Cerebellar agenesis: small posterior fossa forces  Dandy walker malformation: bowing of occiput  Large lateral ventricles: bowing of the forehead  Bicornuate uterus: premature closure of fontanelles.  Moulding (due to prolonged vaginal delivery): affect skull shape but closure of cranial sutures is unaffected.  Premature infants: transient scaphocephaly due to poor mineralization of Extracranial skull → the shape of skull becomes normal after maturity.  Hypotonia: plagiocephaly or occipital flattening, abnormal head shape is forces often persistent may be prevented by frequent changing the infants laying position.  Causes of macrocephaly.  Causes of microcephaly.  Craniosynostosis. 20  Definition: Means small head in which head circumference less than 2 standard deviations from normal distribution.  Etiology: Primary (genetic) Microcephaly  Exposure of the embryo to anxious agent during the first weeks after conception → impairment of neuronal development.  AR inheritance, small brain, slanted forehead, prominent nose and ear, moderate to severe mental retardation, neurological abnormalities such Microcephaly vera as spastic diplegia , seizures may be present  Diagnosis: Normal brain imaging  Management: Symptomatic  Down syndrome (trisomy 21):  Abnormal rounding of occipital and frontal lobes and other dysmorphic Chromosomal features. disorders  Edward syndrome: Dysmorphism  low birth weight, microsomia, micrognathia, low set malformed ears, and rocker bottom feet and may be congenital heart diseases.  Anencephaly:  Defective closure of the anterior neuropore: defect in skull , meninges and scalp with rudimentary brain with or without congenital heart disease or polyhydramnios Defective  Management: Symptomatic neurulation  Encephalocele  Protrusion of cortex and meninges through a midline defect in the skull covered by skin Usually occipital but may be frontal  Diagnosed by brain MRI  Management: immediate surgery 21   Agenesis of corpus callosum :  Solitary agenesis: usually clinically unapparent  Mental retardation and learning disabilities occur in most of cases  Diagnosed by brain CT ,MRI  Management: Symptomatic Defective prosecephalization  Holoprosencephaly :  Defect in cleavage of the embryonic forebrain → spectrum of malformations.  Single ventricle , absent falx cerebri and fused basal ganglia  May be associated with craniofacial dysplasia , facial deformities and their severity is often predictive of the severity of brain malformation  Diagnosed by brain MRI  Management: measures to extend life are inappropriate  Failure of neurons to form the superficial layers of the brain → complete absence of gyri (lissencephaly). Defective cellular  May affect cerebral cortex, cerebellum and brainstem migration  Manifested clinically by developmental delay or intractable myoclonic (X linked dominant) seizures  Diagnosed by brain MRI ( agyria )  Management: Symptomatic specially for seizures 2ry Microcephaly  Intrauterine disorders: o Congenital infections: CMV , Rubella , toxoplasmosis o Drugs o fetal alcohol  Perinatal brain injuries: o Hypoxic ischemic encephalopathy o Intracranial hemorrhage o Meningitis & encephalitis  Postnatal systemic disease: Chronic renal disease & Malnutrition 22  Standard deviation chart for head circumference 23  Craniostenosis (craniosynostosis)  Definition: premature closure of one or more cranial sutures  Classification :  Primary craniostenosis: idiopathic dysfunctional osteoblasts or osteoclasts → abnormal skull development  Secondary craniostenosis: due to failure of brain growth  Clinical picture : Skull deformities  Scaphocephaly : o The most common form o Premature closure of the sagittal suture: long and narrow skull with prominent occiput o Neurologically free  Frontal plagiocephaly : o The second most common form o Premature closure of coronal suture: unilateral flattening of the forehead  Occipital plagiocephaly : o Premature closure of lambdoid suture: unilateral occipital flattening  Brachycephaly : o Premature closure of both coronal sutures: compressed back to front diameter  Trigonocephaly (triangle skull): o Premature closure of metopic suture: keel shaped forehead  Turricephaly : o Premature closure of multiple sutures: conical shaped skull (tower shaped skull). 24  Examination  Palpation of the sutures: It reveal prominent bony ridge and fusion of the suture  Neurological examination: it is usually normal when only one suture is closed  Neurological complications: Hydrocephalus and increased intracranial pressure when two or more sutures are closed.  Investigations :  Plain X ray of skull: confirm fusion of sutures.  CT to detect hydrocephalus: emergency operation.  Treatment  Craniotomy (separation of sutures) is indicated in cases of: o Symptomatic cases due to hydrocephalus or increased intracranial tension. o Asymptomatic cases for cosmetic reasons.  Syndromatic disorders associated with craniostenosis  Crouzon Syndrome :  AD inheritance  Brachycephalic skull  Ocular manifestations: proptosis & Orbital hypertelorism  Hypoplasia of the maxilla  Acrocephalosyndactyly: Polydactyly and Microcephaly  Disorders associated with craniostenosis  Hyperthyroidism.  Mucopolysaccharidosis.  Polycythemia vera.  Sickle cell disease.  Thalassemia major. 25