Open AccessClassic imaging features of L-2-hydroxyglutaric aciduria in young adult presenting as seizures associated with fever
Author(s) -
Suresh Kumar,
Shikha Bhatia,
Mukesh Surya,
Sanjiv Sharma
Publication year - 2020
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_385_18
Subject(s) - medicine , glutaric acid , pediatrics , emergency department , psychomotor learning , psychomotor retardation , urine , metabolic disorder , excretion , gastroenterology , pathology , psychiatry , biochemistry , biology , cognition , alternative medicine
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.