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An approach to a child with      microcephaly              Dr.Anita Lamichhane            MD Resident (paediatrics)       ...
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)...
   HC reflects brain volume, a small skull reflects a small brain.   Incidence of moderate to severe mental retardation ...
types of microcephaly   Primary microcephaly             Secondary microcephaly (non    (genetic)                       ...
Causes of microcephaly
Primary microcephaly ( genetic)   Prenatal onset              chromosomal anomalies                        Down syndrome...
Contd.malformation syndrome     de Lange syndromehereditary conditions     Autosomal recessive ( familial)     Autosoma...
 Post natal onset     malformation Syndromes           Aicardi syndrome           Angel man syndrome           Fanconi...
Contd… Prader-willi syndrome   Beckwith wiedemann syndrome   Bloom syndrome Cri-du-chat ( 5P )
Secondary microcephaly (nongenetic                /acquired)   Prenatal onset                    Intrauterine TORCH infe...
Contd…   Post natal onset                perinatal asphyxia with resultant HIE              perinatally acquired herpes...
 Congenital CNS anomalies            Agenesis of the cerebellar vermis            Agenesis of the corpus callosum      ...
Others…..   Hyperthermia   Radiation   Malnutrition   Drugs            Fetal hydantoin syndrome
pathogenesis   Occurs as a result of               Small brain & poorly growing skull               An abnormal neurona...
Microcephaly Vera   an Autosomal recessive disorder   severe hypoplasia of the frontal regions of the brain and skull. ...
Aicardi Syndrome females only                  Severe mental &                                 development retardation ...
Bloom Syndrome   Autosomal recessive       a butterfly shaped facial rash.   Microcephaly              prone to develo...
Downs Syndrome   Trisomy 21                    small low set ears and   Microcephaly.                                 ...
A child with Down Syndrome
Edward syndrome   Trisomy 18   Microcephaly   Prominent occiput   Micrognathia   Narrow forehead   Cleft lip and pal...
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         mandib...
Cornelia de Lange syndrome   Mental & growth retardation   Synophrys   Micrognathia   ASD & VSD
Patau syndrome   Trisomy 13   Microcephaly   Cutis aplasia ( scalp defect )   Eyes                              catar...
Phenylketonuria Deficiency of phenylalanine hydroxylase in the liver Accumulation of phenylalanine in the blood        ...
Contd…   Diagnosed by increased serum phenylalanine in      Blood   Guthrie test ( 5th– 15th day of life)   Treatment  ...
How to approach a child with microcephaly
History   Family history (for genetic cause)   Exposure of radiation during pregnancy   Maternal drug history   Infect...
Contd..   Difficult delivery:              forceps delivery,   meconium stained liquor   cord around the neck   and lo...
   h/o             high-pitched cry             poor feeding             seizures             increased movement of t...
Examination   Introduction of oneself to the parents   Size of the parents & other siblings head circumference   Note t...
   Child’s posture & symmetry of the movements                     ( voluntary & involuntary )   Inspect the skin for ne...
   Note the child’s overall growth                     generally small                     only head small   examine the...
Contd..   Shape of the head                  flat occiput of Autosomal recessive                     microcephaly   Pal...
   Anterior fontanelle                    a large AF occurs in                   trisomies                 congenital ...
   Eye           micropthalmos (TORCH)           lens for cataract (TORCH, trisomies )           fundus for chorioreti...
hypotelorism       (Holoprosencephaly)upward slant       ( down syndrome)epicanthi fold        ( trisomies )squint        ...
   Ears for hearing                       impairment ( TORCH )   neck for goiter                  hypothyroidism
   Systemic examination        CVS                   for congenital heart defects ( congenital rubella,trisomies )      ...
Investigations   Serological tests for intrauterine TORCH infection   Chromosomal analysis for Autosomal Trisomy syndrom...
   Urine test                 Metabolic screening to detect virus                      excretion with CMV   CSF         ...
a)   Skull x ray           for cerebral calcification                     CMV --- periventricular                     Tox...
CT SCAN/ MRI          for cerebral malformations          evidence of perinatal asphyxia or           intrauterine infec...
   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 focusin...
Contd..   According to the cause.            Anticonvulsants            Physiotherapy           Hearing & speech thera...
An approach to a chil with microcephaly
An approach to a chil with microcephaly
An approach to a chil with microcephaly
An approach to a chil with microcephaly
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An approach to a chil with microcephaly

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  1. 1. An approach to a child with microcephaly Dr.Anita Lamichhane MD Resident (paediatrics) Shaikh Zayed Hospital Lahore
  2. 2. MicrocephalyA child whose head circumference is more thanthree standard deviations below the mean forage and sex
  3. 3.  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
  4. 4.  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
  5. 5. types of microcephaly Primary microcephaly  Secondary microcephaly (non (genetic) genetic /acquired) primary defect in brain development  prenatal onset  prenatal onset  postnatal onset  postnatal onset
  6. 6. Causes of microcephaly
  7. 7. Primary microcephaly ( genetic) Prenatal onset chromosomal anomalies  Down syndrome (21 trisomy)  Edward syndrome (18 trisomy  Patau syndrome (13 trisomy ) malformations  Holoprosencephaly  Lissencephaly
  8. 8. Contd.malformation syndrome  de Lange syndromehereditary conditions  Autosomal recessive ( familial)  Autosomal dominant
  9. 9.  Post natal onset malformation Syndromes  Aicardi syndrome  Angel man syndrome  Fanconi syndrome  Rubinstein Taybi syndrome
  10. 10. Contd… Prader-willi syndrome Beckwith wiedemann syndrome Bloom syndrome Cri-du-chat ( 5P )
  11. 11. Secondary microcephaly (nongenetic /acquired) Prenatal onset  Intrauterine TORCH infection  Fetal alcohol syndrome  Maternal phenylketonuria
  12. 12. 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
  13. 13.  Congenital CNS anomalies  Agenesis of the cerebellar vermis  Agenesis of the corpus callosum  Encephalocele  Macrogyria  Porencephaly  Schizencephaly
  14. 14. Others….. Hyperthermia Radiation Malnutrition Drugs Fetal hydantoin syndrome
  15. 15. pathogenesis Occurs as a result of Small brain & poorly growing skull An abnormal neuronal migration during fetal development. Cytoarchitectural derangements. heterotopias of neuronal cells.
  16. 16. 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.
  17. 17. Aicardi Syndrome females only  Severe mental & development retardation agenesis of the corpus callosum  seizures infantile Spasms  gray matter heterotopias.
  18. 18. Bloom Syndrome Autosomal recessive  a butterfly shaped facial rash. Microcephaly  prone to develop Cancer. short stature  Genetic diagnosis is available. DNA fragility
  19. 19. 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,
  20. 20. A child with Down Syndrome
  21. 21. Edward syndrome Trisomy 18 Microcephaly Prominent occiput Micrognathia Narrow forehead Cleft lip and palate Low set ears ASD & VSD
  22. 22. Cri-Du-Chat Syndrome Microcephaly shrill cat like cry High arch palate small chin
  23. 23. Rubinstein taybi syndrome Mental & growth retardation Broad thumbs with talpism Microcephaly with  mandibular & maxillary hypoplasia  anteverted nose &  antemongoloid slant to palpebral fissures
  24. 24. Cornelia de Lange syndrome Mental & growth retardation Synophrys Micrognathia ASD & VSD
  25. 25. Patau syndrome Trisomy 13 Microcephaly Cutis aplasia ( scalp defect ) Eyes  cataract  Colobomata  Microphthalmia  corneal opacities Hands polydactyly
  26. 26. 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
  27. 27. Contd… Diagnosed by increased serum phenylalanine in Blood Guthrie test ( 5th– 15th day of life) Treatment A diet low in phenylalanine
  28. 28. How to approach a child with microcephaly
  29. 29. History Family history (for genetic cause) Exposure of radiation during pregnancy Maternal drug history Infection during pregnancy Maternal DM or PKU
  30. 30. 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
  31. 31.  h/o  high-pitched cry  poor feeding  seizures  increased movement of the arms and legs (spasticity)
  32. 32. 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)
  33. 33.  Child’s posture & symmetry of the movements ( voluntary & involuntary ) Inspect the skin for neurocutaneous stigmata Head circumference Height & weight & plot in the centile chart
  34. 34.  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)
  35. 35. 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)
  36. 36.  Anterior fontanelle  a large AF occurs in  trisomies  congenital rubella  hypothyroidism Petechiae or skin rash
  37. 37.  Eye  micropthalmos (TORCH)  lens for cataract (TORCH, trisomies )  fundus for chorioretinitis (TORCH)  glaucoma ( congenital rubella )  red reflex ( rubella)
  38. 38. hypotelorism (Holoprosencephaly)upward slant ( down syndrome)epicanthi fold ( trisomies )squint ( TORCH)pupils for anisocoria ( cong. Varicella )
  39. 39.  Ears for hearing impairment ( TORCH ) neck for goiter hypothyroidism
  40. 40.  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
  41. 41. Investigations Serological tests for intrauterine TORCH infection Chromosomal analysis for Autosomal Trisomy syndrome Neonatal screening tests for PKU & congenital hypothyroidism
  42. 42.  Urine test Metabolic screening to detect virus excretion with CMV CSF to detect intrauterine or perinatal TORCH infection
  43. 43. a) Skull x ray for cerebral calcification CMV --- periventricular Toxoplasmosis—diffuse to detect early closure of sutures
  44. 44. CT SCAN/ MRI  for cerebral malformations  evidence of perinatal asphyxia or intrauterine infection
  45. 45.  Genetic studies are indicated in patients with Dysmorphic features
  46. 46.  Microcephaly may be diagnosed before birth by prenatal ultrasound. Genetic counseling should be done
  47. 47. 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.
  48. 48. Contd.. According to the cause. Anticonvulsants Physiotherapy Hearing & speech therapy Dietary management for failure to thrive Genetic counseling
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