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VOLUME 1 , ISSUE 1 ( January-June, 2025 ) > List of Articles

CASE REPORT

A Rare Case of KCTD7 Gene Mutation Masquerading as Opsoclonus-myoclonus Ataxia Syndrome – A Case Report

Ayush Khare, Jayshree Mahigh, Dixa Shah, Nitish Vora, Sanjiv Mehta, Siddharth Shah, Rahul Badheka

Keywords : Case report, KCTD7(+) mutation, Myoclonus, Opsoclonus-myoclonus/ataxia syndrome

Citation Information : Khare A, Mahigh J, Shah D, Vora N, Mehta S, Shah S, Badheka R. A Rare Case of KCTD7 Gene Mutation Masquerading as Opsoclonus-myoclonus Ataxia Syndrome – A Case Report. J Acad Pediatr Neurol 2025; 1 (1):14-16.

DOI: 10.5005/jaopn-11028-0003

License: CC BY-NC 4.0

Published Online: 17-01-2025

Copyright Statement:  Copyright © 2025; The Author(s).


Abstract

Introduction: The KCTD7 gene is a potassium channel-related gene. Mutations in this gene, either homozygous or compound heterozygous, typically result in early-onset, intractable myoclonic seizures before the age of 2 years, often accompanied by developmental regression. In this case, a homozygous missense variant in exon 3 of the KCTD7 gene (chr7:g.66638272C>T; depth: 97x) was identified, causing an amino acid change from arginine to cysteine at codon 112 (p.Arg112Cys; ENST00000639828.2). Due to limited evidence in the literature, this variant has been classified as one of uncertain significance, necessitating careful correlation with clinical findings. Clinical description: We present a rare case of a 1-year-old male patient presenting with acute onset of myoclonus, opsoclonus, and ataxia with developmental delay. Patient was given intravenous and oral steroids, but showed little improvement; so, intravenous rituximab treatment was also tried. He also had abnormal epileptic discharges from right hemisphere with background abnormality. Previous high-resolution computed tomography scan of the thorax, computed tomography scan of the abdomen, and magnetic resonance imaging of brain were reported as normal. Therefore, whole exome sequencing was sent, which reported as homozygous, autosomal recessive, KCTD7(+) mutation, which is mainly reported as a cause for progressive myoclonic epilepsy-3. Conclusion: An evaluation for KCTD7 gene mutation should be done if a patient presents with an atypical course of opsoclonus-myoclonus with ataxia.


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