Question of the Week

Question :
Posted On : 06 Jul 2017
11 mth old male with non significant birth history,product of non-consanguineous marriage,global dev. delay,no seizures,spasticity in all 4 limbs,eye,ear-normal. investigations show-torch-normal,karyotyping normal,mri brain show-pachygyria,abnormal myleination.
possible diagnosis_?
what genetic mutation test could help_?
Expert Answer :
Since the child has pachygyria, it suggests abnormal cell migration due to genetic or possibly environmental influences. Since the child has spasticity, rule out Doublecortin gene mutation. DCX was the first known gene causing X-web addressed lissencephaly and subcortical band heterotopia. It is found on chromosome Xq22.3-q23 and has nine exons that code for 360 protein. Pachygyria can also occur with Zellweger syndrome.
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