Annals of Indian Academy of Neurology
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Year : 2020  |  Volume : 23  |  Issue : 3  |  Page : 352-354

Classic imaging features of L-2-hydroxyglutaric aciduria in young adult presenting as seizures associated with fever

Department of Radio Diagnosis and Imaging, IGMC, Shimla, Himachal Pradesh, India

Correspondence Address:
Dr. Suresh Kumar
Department of Radio Diagnosis and Imaging, IGMC, Shimla - 171 001, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_385_18

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L-2 Hydroxyglutaric aciduria is a rare metabolic disorder which is autosomal recessive in inheritance. It is characterised by the increased urinary excretion of L-2 hydroxyglutaric acid and the diagnosis is based on the increased levels of the L-2 hydroxy glutaric acid in the urine, serum & CSF. This is a neurometabolic disorder which is associated with slowly progressive psychomotor delay since childhood. We report a case of an 18 –year old female who presented at the emergency department with seizures, fever and on imaging show classic features.

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