A case of 4 month old child -delayed milestones, microcephaly, craniosynostosis due to premature fusion of sutures. mng


Microcephaly Causes craniosynostosis. Cerebral anoxia during delivery. Chromosomal abnormalities as Downs syndrome. Fetal infections during pregnancy CMV toxoplasmosis vericella chiken pox German measles Zika virus infection during pregnancy. Extreme malnutrition of mother during pregnancy. Fetal exposure to alcohol drugs some toxic chemicals. If mother has uncontrolled PKU. Treatment if there is craniostynosis surgical intervention to separate fused sutures to give chance to brain devlopement.
MRI Brain showed predominantly white matter involvement and sparing the grey matter...one has think of Phenyl ketonuria, and neurodegenerative disorders like adrenoleukodystrophy, and early onset metachromatic leukodystrophy. Ultimately, grey matter will be involved like with seizural onset.
In this case No treatment is possible Is this patient is 4months or 4yrs? If he is not a pt of Downs . separaration of cranial suture will give scope to brain devlopment.
Crouzon syndrome
OK no consanguinity and no Fetal or Neonatal loss. Sr Ammonia levels are mildly elevated, may be around 60, unable read,too small letters. I would like to know Sr Arginine and alanine levels, They go side by side in urea cycle defects. Other Causes for MR with STATEs are - Secondary 1)Organoacidemias,2) Fatty acid defects 3) Hepatic encephalopathies,4) rare metabolic disorders. Clues: Hyperammonemia with increased alanine levels ,resp.alkalosis goes in favour of Urea cycle defects. Hyperammonemia with metabolic acidosis goes in favour of Organic acidemia.
Craniosynostosis is secondary to microcephaly here.The developmental delay is also due to microcephaly.No surgical intervention will help him.Rehabilitate the patient and explain guarded prognosis.
no surgical intervention sir? can u plz explain
Parental counselling chromosomal/ genetic exam neurophysiotherapy rehabilitate surgical intervention *I think his age is wrongly mentioned he looks 4 years old not of 4 months
pt is of 4 months..its a close view sir
It looks like a case of scaphocephaly... It's due to premature closure of saggital suture... Strip craniectomy may be beneficial to the baby...
Any H/o consanguinity, early Neonatal loss, Early hyperammonemia disorders/urea cycle defects
non consanguinous, no neonatal loss...but ser.ammonia levels were high sir

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