Javeria Raza Alvi, Saher Gul Ahdi, Mahrukh Sultan, Tipu Sultan.
Pseudo-Torch- a Rare Mutation Causing Global Development Delay, Microcephaly and Extensive Band Like Brain Calcification.
Pak J Neurological Sci Jan ;16(4):35-7.

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.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com