Classic imaging features of L-2-hydroxyglutaric aciduria in young adult presenting as seizures associated with fever
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....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2020-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=3;spage=352;epage=354;aulast= |
| Summary: | 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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| ISSN: | 0972-2327 1998-3549 |