ISSN - 0973-0958
   
 
Leigh’s Syndrome due to Unreported Heterozygous Variations in NDUFAF6 Gene
A Bajpai1, RK Gupta2, RK Thapar2.
1Department of Pediatrics, 7 Air Force Hospital, Kanpur, India, 2Department of Pediatrics, Command Hospital, Lucknow, India.
 
Abstract

Leigh’s Syndrome also termed as sub-acute necrotizing encephalopathy is a rare, inherited progressive neurodegenerative disorder with characteristic pathological features usually presenting in infancy or early childhood. We report a 5 years old male child who had gradual regression of achieved milestones from 1 year of age. He developed myoclonic seizures at age of four years. On examination, he had rigidity. MRI showed abnormal signal pattern in bilateral putamen, caudate and superior colliculi. Targeted gene sequencing analysis showed complex I deficiency that was compound heterozygous for two variations in NDUFAF6 gene (612392.0001 and 612392.0002) which is known to cause Leigh’s Syndrome.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0