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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2016; 26(01): 131-134
DOI: 10.4103/0971-3026.178362
Neuro

Atypical MR lenticular signal change in infantile isovaleric acidemia

Nisar A Wani
Department of Pediatric Radiology, Government Medical College, Srinagar, Jammu and Kashmir, India
,
Umer Amin Qureshi
Department of Pediatrics, Government Medical College, Srinagar, Jammu and Kashmir, India
,
Majid Jehangir
Department of Radiology, Government Medical College, Srinagar, Jammu and Kashmir, India
,
Kaiser Ahmad
Department of Pediatrics, Government Medical College, Srinagar, Jammu and Kashmir, India
,
Zahid Hussain
Department of Pediatrics, Government Medical College, Srinagar, Jammu and Kashmir, India
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Abstract

Isovaleric acidemia (IVA) is an inborn error of branched chain amino acid metabolism that may manifest as acute neonatal metabolic acidosis or as chronic intermittent form with developmental delay or recurrent episodes of acute metabolic acidosis. Early diagnosis is the key to prevent morbidity and mortality. Brain imaging abnormalities are rarely described in IVA. We report a case of chronic intermittent IVA with acute presentation in a 4-month-old infant who presented with acute metabolic acidosis. Brain magnetic resonance imaging (MRI) revealed symmetric signal intensity changes in bilateral lentiform nuclei with an unreported T1-weighted (T1W) symmetric hyperintense ring-like appearance in bilateral putamen.

Keywords

Basal ganglia - inborn error of metabolism - isovaleric academia - magnetic resonance imaging


Publikationsverlauf

Artikel online veröffentlicht:
30. Juli 2021

© 2016. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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