4.16.24 21st Century Movements for Black Lives.pptx
An approach to a chil with microcephaly
1. An approach to a child with
microcephaly
Dr.Anita Lamichhane
MD Resident (paediatrics)
Shaikh Zayed Hospital
Lahore
2. Microcephaly
A child whose head circumference is more than
three standard deviations below the mean for
age and sex
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.
5.
6. 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
14. 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
15. Congenital CNS anomalies
Agenesis of the cerebellar vermis
Agenesis of the corpus callosum
Encephalocele
Macrogyria
Porencephaly
Schizencephaly
17. pathogenesis
Occurs as a result of
Small brain & poorly growing skull
An abnormal neuronal migration during fetal
development.
Cytoarchitectural derangements.
heterotopias of neuronal cells.
18. 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.
19. Aicardi Syndrome
females only Severe mental &
development retardation
agenesis of the corpus
callosum seizures
infantile Spasms gray matter heterotopias.
20. Bloom Syndrome
Autosomal recessive a butterfly shaped facial rash.
Microcephaly prone to develop Cancer.
short stature Genetic diagnosis is available.
DNA fragility
21. Down's 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,
28. 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
29. Contd…
Diagnosed by increased serum phenylalanine in
Blood
Guthrie test ( 5th– 15th day of life)
Treatment A diet low in phenylalanine
31. History
Family history (for genetic cause)
Exposure of radiation during pregnancy
Maternal drug history
Infection during pregnancy
Maternal DM or PKU
32. 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
33. h/o
high-pitched cry
poor feeding
seizures
increased movement of the arms
and legs (spasticity)
34. 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)
35. Child’s posture & symmetry of the movements
( voluntary & involuntary )
Inspect the skin for neurocutaneous stigmata
Head circumference
Height & weight & plot in the centile chart
36. 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)
37. 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)
38.
39. Anterior fontanelle
a large AF occurs in
trisomies
congenital rubella
hypothyroidism
Petechiae or skin rash
40. Eye
micropthalmos (TORCH)
lens for cataract (TORCH, trisomies )
fundus for chorioretinitis (TORCH)
glaucoma ( congenital rubella )
red reflex ( rubella)
42. Ears for hearing
impairment ( TORCH )
neck for goiter
hypothyroidism
43. 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
44. Investigations
Serological tests for intrauterine TORCH infection
Chromosomal analysis for Autosomal Trisomy syndrome
Neonatal screening tests for PKU & congenital hypothyroidism
45. Urine test
Metabolic screening to detect virus
excretion with CMV
CSF
to detect intrauterine or perinatal TORCH
infection
46. a) Skull x ray
for cerebral calcification
CMV --- periventricular
Toxoplasmosis—diffuse
to detect early closure of sutures
47. CT SCAN/ MRI
for cerebral malformations
evidence of perinatal asphyxia or
intrauterine infection
48. Genetic studies are indicated in patients
with Dysmorphic features
49. Microcephaly may be diagnosed before birth
by prenatal ultrasound.
Genetic counseling should be done
50. 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.
51. Contd..
According to the cause.
Anticonvulsants
Physiotherapy
Hearing & speech therapy
Dietary management for failure to
thrive
Genetic counseling