Document Type

Case Report


Pseudo-TORCH 1 syndrome is an inherited autosomal recessive disorder that clinically and radiologically mimic congenital TORCH infection. We report a case of three and half years old child who presented with early infantile seizures, progressive microcephaly, facial dysmorphism and global developmental delay. There were symmetrical band like intra-parenchymal calcification as well as in pons and thalami. Serological testing for infectious agents was negative. His Whole exome sequencing revealed OCLN gene mutation consistent with Pseudo-TORCH syndrome-1.

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