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Journal of Pediatric Neurology 2022; 20(03): 218-223
DOI: 10.1055/s-0041-1731773
Case Report

Screening for Inherited Metabolic Disorders by Tandem Mass Spectrometry May Miss L-2 Hydroxy Glutaric Aciduria: A Report of Two Cases

Dipti Baskar
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Saraswati Nashi
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Srijithesh Rajendran P.
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Gautham Arunachal
2   Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Rita Christopher
3   Department of Neuro-Biochemistry, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Girish B. Kulkarni
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
,
Survarna Alladi
1   Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
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Abstract

L-2 hydroxy glutaric aciduria (L-2HGA) is an autosomal recessive neurometabolic disorder. It is characterized by a variety of clinical features and typical radiological features which aids in diagnosis. We report two cases that presented with unexplained intellectual impairment and seizures. Magnetic resonance imaging (MRI) brain showed characteristic features of L-2HGA. Tandem mass spectrometry was negative in both cases. Genetic analysis was done based on typical imaging features which confirmed the diagnosis of L-2HGA. For patients with unexplained developmental delay and typical MRI features, a high degree of suspicion is necessary to confirm the diagnosis with targeted genetic analysis.

Keywords

L-2 hydroxy glutaric aciduria - seizures - status dystonicus - tandem mass spectrometry


Publication History

Received: 24 March 2021

Accepted: 29 May 2021

Article published online:
19 July 2021

© 2021. Thieme. All rights reserved.

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