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Journal of Pediatric Neurology 2021; 19(02): 109-112
DOI: 10.1055/s-0040-1714093
Case Report

Siblings with Infantile Neuroaxonal Dystrophy

Pulkit Agarwal 
1   Department of Pediatrics, Military Hospital, Ahmedabad, Gujarat, India
,
Jyotindra Narayan Goswami 
2   Department of Pediatrics, Army Hospital (R&R), Delhi, India
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Abstract

A 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

Keywords

infantile neuroaxonal dystrophy - PLA2G6 mutation

Note

Initial presentation of the children, preliminary clinical work-up, and basic investigations were performed at Military Hospital, Ahmedabad, Gujarat.


Neuroimaging and genetic testing were performed from Army Hospital (R&R), Delhi.


Authors' Contributions

P.A. dedicated in case management, draft manuscript preparation, literature review, and approval of final manuscript. J.N.G. supported in clinician-in-charge, literature review, and approval of final manuscript.




Publication History

Received: 02 April 2020

Accepted: 31 May 2020

Article published online:
20 August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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