• Share
  • Email
  • Embed
  • Like
  • Save
  • Private Content
An approach to a chil with microcephaly

An approach to a chil with microcephaly






Total Views
Views on SlideShare
Embed Views



0 Embeds 0

No embeds


Upload Details

Uploaded via as Microsoft PowerPoint

Usage Rights

© All Rights Reserved

Report content

Flagged as inappropriate Flag as inappropriate
Flag as inappropriate

Select your reason for flagging this presentation as inappropriate.

  • Full Name Full Name Comment goes here.
    Are you sure you want to
    Your message goes here
Post Comment
Edit your comment

    An approach to a chil with microcephaly An approach to a chil with microcephaly Presentation Transcript

    • An approach to a child with microcephaly Dr.Anita Lamichhane MD Resident (paediatrics) Shaikh Zayed Hospital Lahore
    • MicrocephalyA child whose head circumference is more thanthree standard deviations below the mean forage and sex
    •  Normal head circumference at birth  Male: 35cm(mean) range = 32---37 cm  Female: 34cm(mean) Rate of growth of head circumference  2cm/month 1st three months of life  1cm/month 4-6 months of age  0.5cm/month 6-12 months of age  47cm at 1 yr of age  49 cm at 2 yrs of age
    •  HC reflects brain volume, a small skull reflects a small brain. Incidence of moderate to severe mental retardation  HC from 2-3 SD below the age is 33%.  HC > 3 SD, incidence is 62% Not always associated with mental retardation
    • types of microcephaly Primary microcephaly  Secondary microcephaly (non (genetic) genetic /acquired) primary defect in brain development  prenatal onset  prenatal onset  postnatal onset  postnatal onset
    • Causes of microcephaly
    • Primary microcephaly ( genetic) Prenatal onset chromosomal anomalies  Down syndrome (21 trisomy)  Edward syndrome (18 trisomy  Patau syndrome (13 trisomy ) malformations  Holoprosencephaly  Lissencephaly
    • Contd.malformation syndrome  de Lange syndromehereditary conditions  Autosomal recessive ( familial)  Autosomal dominant
    •  Post natal onset malformation Syndromes  Aicardi syndrome  Angel man syndrome  Fanconi syndrome  Rubinstein Taybi syndrome
    • Contd… Prader-willi syndrome Beckwith wiedemann syndrome Bloom syndrome Cri-du-chat ( 5P )
    • Secondary microcephaly (nongenetic /acquired) Prenatal onset  Intrauterine TORCH infection  Fetal alcohol syndrome  Maternal phenylketonuria
    • Contd… Post natal onset  perinatal asphyxia with resultant HIE  perinatally acquired herpes simplex encephalitis/meningitis  head injury  endocrine anomalies hypothyroidism hypopitutarism  inherited metabolic disease such as PKU
    •  Congenital CNS anomalies  Agenesis of the cerebellar vermis  Agenesis of the corpus callosum  Encephalocele  Macrogyria  Porencephaly  Schizencephaly
    • Others….. Hyperthermia Radiation Malnutrition Drugs Fetal hydantoin syndrome
    • pathogenesis Occurs as a result of Small brain & poorly growing skull An abnormal neuronal migration during fetal development. Cytoarchitectural derangements. heterotopias of neuronal cells.
    • Microcephaly Vera an Autosomal recessive disorder severe hypoplasia of the frontal regions of the brain and skull. severe mental retardation.Note: HC alone should never be used to establish a prognosis for intellectual development.
    • Aicardi Syndrome females only  Severe mental & development retardation agenesis of the corpus callosum  seizures infantile Spasms  gray matter heterotopias.
    • Bloom Syndrome Autosomal recessive  a butterfly shaped facial rash. Microcephaly  prone to develop Cancer. short stature  Genetic diagnosis is available. DNA fragility
    • Downs Syndrome Trisomy 21  small low set ears and Microcephaly.  incurving of the fifth finger.  a single palmar crease ( simian up slanting Fissures, crease) epicanthal Folds,  hypotonia flat facial profile,
    • A child with Down Syndrome
    • Edward syndrome Trisomy 18 Microcephaly Prominent occiput Micrognathia Narrow forehead Cleft lip and palate Low set ears ASD & VSD
    • Cri-Du-Chat Syndrome Microcephaly shrill cat like cry High arch palate small chin
    • Rubinstein taybi syndrome Mental & growth retardation Broad thumbs with talpism Microcephaly with  mandibular & maxillary hypoplasia  anteverted nose &  antemongoloid slant to palpebral fissures
    • Cornelia de Lange syndrome Mental & growth retardation Synophrys Micrognathia ASD & VSD
    • Patau syndrome Trisomy 13 Microcephaly Cutis aplasia ( scalp defect ) Eyes  cataract  Colobomata  Microphthalmia  corneal opacities Hands polydactyly
    • Phenylketonuria Deficiency of phenylalanine hydroxylase in the liver Accumulation of phenylalanine in the blood Toxic to brain Causes microcephaly mental retardation cerebral palsy eczema mousy odor of urine
    • Contd… Diagnosed by increased serum phenylalanine in Blood Guthrie test ( 5th– 15th day of life) Treatment A diet low in phenylalanine
    • How to approach a child with microcephaly
    • History Family history (for genetic cause) Exposure of radiation during pregnancy Maternal drug history Infection during pregnancy Maternal DM or PKU
    • Contd.. Difficult delivery: forceps delivery, meconium stained liquor cord around the neck and low Apgar Scores all raises the possibility of hypoxic ischemic encephalopathy Significant fever during neonatal period
    •  h/o  high-pitched cry  poor feeding  seizures  increased movement of the arms and legs (spasticity)
    • Examination Introduction of oneself to the parents Size of the parents & other siblings head circumference Note the child’s alertness Look for any Dysmorphic feature ( intrauterine TORCH, de Lange, Rubinstein Taybi)
    •  Child’s posture & symmetry of the movements ( voluntary & involuntary ) Inspect the skin for neurocutaneous stigmata Head circumference Height & weight & plot in the centile chart
    •  Note the child’s overall growth generally small only head small examine the head for any scar marks ( surgical repair of Craniosynostosis, closure of Encephalocele)
    • Contd.. Shape of the head  flat occiput of Autosomal recessive microcephaly Palpate the head for ridging along the suture line & any deformity of skull contour  (Craniosynostosis) or bony defects ( repaired Encephalocele)
    •  Anterior fontanelle  a large AF occurs in  trisomies  congenital rubella  hypothyroidism Petechiae or skin rash
    •  Eye  micropthalmos (TORCH)  lens for cataract (TORCH, trisomies )  fundus for chorioretinitis (TORCH)  glaucoma ( congenital rubella )  red reflex ( rubella)
    • hypotelorism (Holoprosencephaly)upward slant ( down syndrome)epicanthi fold ( trisomies )squint ( TORCH)pupils for anisocoria ( cong. Varicella )
    •  Ears for hearing impairment ( TORCH ) neck for goiter hypothyroidism
    •  Systemic examination CVS  for congenital heart defects ( congenital rubella,trisomies ) Abdomen  hepatosplenomegaly (TORCH) Genitalia  micropenis with hypopitutarism structure ( cryptorchidism) Joint contractures Asses the gross and fine motor development– 180 degree maneuver
    • Investigations Serological tests for intrauterine TORCH infection Chromosomal analysis for Autosomal Trisomy syndrome Neonatal screening tests for PKU & congenital hypothyroidism
    •  Urine test Metabolic screening to detect virus excretion with CMV CSF to detect intrauterine or perinatal TORCH infection
    • a) Skull x ray for cerebral calcification CMV --- periventricular Toxoplasmosis—diffuse to detect early closure of sutures
    • CT SCAN/ MRI  for cerebral malformations  evidence of perinatal asphyxia or intrauterine infection
    •  Genetic studies are indicated in patients with Dysmorphic features
    •  Microcephaly may be diagnosed before birth by prenatal ultrasound. Genetic counseling should be done
    • Management No treatment for microcephaly Baby’s head cannot be returned to a normal size & shape Includes focusing on preventing or minimizing deformities & maximizing the child’s capabilities at home & in the community.
    • Contd.. According to the cause. Anticonvulsants Physiotherapy Hearing & speech therapy Dietary management for failure to thrive Genetic counseling