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Childhood Myocerebrohepatopathy Spectrum Disorder due to Polymerase Gamma Pathogenic Variant.

Authors :
Gowda, Vykuntaraju K.
Srinivasan, Varunvenkat M.
Shivappa, Sanjay K.
Source :
Annals of Indian Academy of Neurology. Nov/Dec2021, Vol. 24 Issue 6, p942-943. 2p.
Publication Year :
2021

Abstract

A case study of an eight‑year‑old boy born to consanguineous marriage is brought with developmental delay, recurrent falls, seizures, behavioral abnormality, and unresponsiveness with fever in the last 20 days. Topics include riboflavin and child has a significant improvement in development, which may be due to medications or spontaneous health recovery; and child presenting with developmental delay, and muscle enzymes, a diagnosis of childhood myocerebrohepatopathy should be considered.

Details

Language :
English
ISSN :
09722327
Volume :
24
Issue :
6
Database :
Academic Search Index
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Academic Journal
Accession number :
154230871
Full Text :
https://doi.org/10.4103/aian.AIAN_607_20