Naznin Akter1* and Iffatara Shamsad2
1Department of Pediatric Neurology, Dhaka Medical College, Bangladesh
2Department of Pediatrics, Dhaka Medical College, Bangladesh
Clinical similarities of TORCH syndrome but serological negative findings for infectious agent named it Psuedo-TORCH syndrome, which follows autosomal recessive inheritance but it has genetic heterogeneity. Here we reported a case of 11 month old girl of consanguineous parent with psychomotor retardation, microcephaly and intracranial calcifications but she was serologically negative for TORCH infection and positive for homozygous mutation in the gene encoding occluding (OCLN) on chromosome 5.
Akter N, Shamsad I. Homozygous Mutation of OCLN Gene Result in Pseudo-TORCH Syndrome Type I: A Case Reports and Literature Review. Clin Case Rep Int. 2022; 6: 1298.