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Classic imaging features of L-2-hydroxyglutaric aciduria in young adult presenting as seizures associated with fever
Suresh Kumar, Shikha Bhatia, Mukesh Surya, Sanjiv Sharma
Department of Radio Diagnosis and Imaging, IGMC, Shimla, Himachal Pradesh, India
Correspondence Address:
Suresh Kumar,
Department of Radio Diagnosis and Imaging, IGMC, Shimla - 171 001, Himachal Pradesh
India
 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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