L-2-hydroxyglutaric aciduria. A case report
DOI:
https://doi.org/10.53903/01212095.121Keywords:
Magnetic resonance imaging, Pediatrics, Neurology, Brain, Rare diseases, Brain diseases metabolicAbstract
L-2-hydroxyglutaric aciduria (AL2HG) is a rare autosomal recessive neurometabolic disorder. It is characterized by elevated of L-2-hydroxyglutarate and lysine in urine, cerebrospinal fluid and plasma. Patients usually have neurological manifestations including mild to moderate psychomotor developmental delay, cerebellar ataxia, macrocephaly and epilepsy. Magnetic resonance imaging
(MRI) has shown abnormalities in the signal intensity of the subcortical cerebral white matter, putamen and dentate nucleus. This article reports a case to demonstrate the classically described imaging findings.
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