Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report

Authors

  • Kanij Fatema Associate Professor, Department of Pediatric Neurology,IPNA, BSMMU, Dhaka
  • Md Mizanur Rahman Ex-Chairman and Professor, Department of Pediatric Neurology, BSMMU, Dhaka
  • Shaheen Akhter Professor, Department of Pediatric Neurology, Director, IPNA, BSMMU, Dhaka

DOI:

https://doi.org/10.3329/bjch.v44i3.52713

Keywords:

Cockayne syndrome, ERCC8 mutation, growth failure, dysmorphism

Abstract

Cockayne syndrome (CS) is a genetic disorder characterized by growth failure, microcephaly, cognitive delay, visual and hearing disorders. Patients usually present with dysmorphism and global delay. It is an autosomal recessive disorder, mutation of two genes ERCC8 and ERCC6 were observed. We report a 4 year old child who was diagnosed as a case of Cockayne syndrome, based on clinical, neuroimaging and genetic study findings. This case had growth failure, dysmorphism, optic atrophy, global developmental delay, intracerebral calcification and mutation of ERCC8 gene.

Bangladesh J Child Health 2020; VOL 44 (3) :181-183

Downloads

Download data is not yet available.
Abstract
370
PDF
367

Downloads

Published

2021-03-29

How to Cite

Fatema, K., Rahman, M. M., & Akhter, S. (2021). Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report. Bangladesh Journal of Child Health, 44(3), 181–183. https://doi.org/10.3329/bjch.v44i3.52713

Issue

Vol. 44 No. 3 (2020)

Section

Case Reports