Sukanya Ghosh¹, Pawan Saraswat², Ankur Singh³, Abhishek Abhinay³, Animesh Kumar⁴ and Rajniti Prasad³*

¹Junior Resident, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
²Fellow in Division of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
³Professor, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
⁴DNB Resident, GMERS and Medical college, Himmatnagar, Gujrat, India

*Corresponding Author: Rajniti Prasad, Professor, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

Received: February 04, 2025; Published: February 20, 2025

Abstract

Arthrogryposis multiplex congenita (OMIM# 619334), involves a variety of non-progressive conditions that are characterized by multiple joint contractures and muscle weakness. Here we report a case of 8months male, case of Arthrogryposis multiplex congenital(AMC) type VI with partial corpus callosum agenesis having novel gene mutation pTyr5262His of the NEB gene on Exon 101, who presented to us with global developmental delay with multiple joint contractures.This child has been managed by a multidisciplinary team. AMC type VI with partial corpus callosum agenesis is rare and NEB gene mutation causing both has not been reported in any Indian setting.

 Keywords: Arthrogryposis Congenita; Corpus Callosum; Agenesis; Mutation

References

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Citation

Citation: Rajniti Prasad., et al. “NEB Gene Novel Mutation Leading to Arthrogryposis Multiplex Congenita with Partial Corpus Callosum Partial Agenesis: A Case Report with Review of Literature”. Acta Scientific Neurology 8.3 (2025): 17-19.

Copyright

Copyright: © 2025 Rajniti Prasad., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.