Pontocerebellar Hypoplasia Type 6: A Rare Disorder in Two Siblings

Authors

  • Husnea Ara Khan Assistant Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Dhaka, Bangladesh
  • Jobaida Parvin Assistant professor, Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Dhaka, Bangladesh
  • Dipa Saha Associate professor, Department of Pediatric Neurology, Ad-din Women’s Medical college, Dhaka, Bangladesh
  • Sharmin Hossain Junior consultant, Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Dhaka, Bangladesh
  • Mohammed Monir Hossain Assistant professor, Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Dhaka, Bangladesh
  • Narayan Chandra Saha Professor & Head, Department of Pediatric Neurology, National Institute of Neurosciences & Hospital, Sher-E-Bangla Nagar, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/jbcps.v43i1.78785

Keywords:

Pontocerebellar Hypoplasia

Abstract

Pontocerebellar hypoplasia type 6 (PCH-6) is a mitochondrial disease caused by mutations in the RARS2 gene. It is characterized by severe neurodevelopmental impairment, progressive microcephaly, seizure, cerebellar and pontine hypoplasia. We present a detailed description of two siblings with PCH-6. They had similar symptoms like developmental delay, seizure, and microcephaly. Neuroimaging abnormalities were found in both patient but finding typical for PCH-6 was only found in patient-1. Whole-exome sequencing confirmed that both siblings harbored the same compound heterozygous c.1A>G (p. Met1?)  and c.574_575delinsTT (p. Glu192leu) variant in RARS2 gene. This case report highlights the clinical features, and diagnosis of PCH-6 in two siblings. A heightened index of suspicion for PCH-6 is merited in infants with developmental delay, intractable seizure, and microcephaly.

J Bangladesh Coll Phys Surg 2025; 43: 93-97

Downloads

Abstract
90
PDF
92

Downloads

Published

2025-01-30

How to Cite

Khan, H. A., Parvin, J., Saha, D., Hossain, S., Hossain, M. M., & Saha, N. C. (2025). Pontocerebellar Hypoplasia Type 6: A Rare Disorder in Two Siblings. Journal of Bangladesh College of Physicians and Surgeons, 43(1), 93–97. https://doi.org/10.3329/jbcps.v43i1.78785

Issue

Vol. 43 No. 1 (2025)

Section

Case Reports

License

Submission of a manuscript for publication implies the transfer of the copyright from the author to the publisher upon acceptance. Accepted manuscripts become the permanent property of the Journal of Bangladesh College of Physicians and Surgeons and may not be reproduced by any means in whole or in part without the written consent of the publisher.

No part of the materials published in this journal may be reproduced, stored in a retrieval system or transmitted in any form or by any means electronic, mechanical, photocopying, recording or otherwise without the prior written permission of the publisher. Reprints of any article in the Journal will be available from the publisher.