Pseudo-Torch- A Rare Mutation Causing Global Development Delay, Microcephaly and Extensive Band Like Brain Calcification

Authors

Javeria Raza Alvi, Children’s Hospital & Institute of Child Health, Lahore
Saher Gul Ahdi, Children’s Hospital & Institute of Child Health, Lahore
Mahrukh Sultan, Children’s Hospital & Institute of Child Health, Lahore
Tipu Sultan, Children’s Hospital & Institute of Child Health, Lahore

Document Type

Case Report

Abstract

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.

Recommended Citation

Alvi, Javeria Raza; Ahdi, Saher Gul; Sultan, Mahrukh; and Sultan, Tipu (2021) "Pseudo-Torch- A Rare Mutation Causing Global Development Delay, Microcephaly and Extensive Band Like Brain Calcification," Pakistan Journal of Neurological Sciences (PJNS): Vol. 16: Iss. 4, Article 3.
Available at: https://ecommons.aku.edu/pjns/vol16/iss4/3