Homozygous mutation of OCLN gene in Pseudo-TORCH Syndrome Type I : A Case Report

Authors

  • Naznin Akter Assistant Professor, Department of Pediatric Neurology, Dhaka Medical College, Dhaka.
  • Iffat Ara Shamsad Professor of Pediatrics, Dhaka Medical College, Dhaka

DOI:

https://doi.org/10.3329/bjch.v46i2.72125

Keywords:

Pseudo-TORCH Syndrome

Abstract

Clinical similarities of TORCH syndrome but serological negative findings for an infectious agent named it Pseudo-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.

BANGLADESH J CHILD HEALTH 2022; VOL 46 (2) : 95-97      

Downloads

Download data is not yet available.
Abstract
2
PDF
1

Downloads

Published

2024-05-07

How to Cite

Akter, N. ., & Shamsad, I. A. . (2024). Homozygous mutation of OCLN gene in Pseudo-TORCH Syndrome Type I : A Case Report. Bangladesh Journal of Child Health, 46(2), 95–97. https://doi.org/10.3329/bjch.v46i2.72125

Issue

Vol. 46 No. 2 (2022)

Section

Case Reports