Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
Saudi Med J
; 45(7): 745-748, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38955445
ABSTRACT
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life. The family reported symptoms of progressive psychomotor regression since childhood. On assessment, the patient had mild impairment of higher mental functions, mild exotropia, and right-hand dystonia. Brain MRI revealed diffuse bilateral symmetrical subcortical white matter hyperintense signals. 2-hydroxyglutaric acid in urine was elevated and the whole genome sequencing revealed a homogeneous pathogenic variant of the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. The prognosis was explained to the caregivers. Patients with mild phenotype L-2-HGA can remain undiagnosed until adulthood. Cases of dystonia even without complaints of epilepsy should be investigated by MRI -brain, urine test and genetic testing to rule out L-2-HGA.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Imagen por Resonancia Magnética
/
Trastornos Distónicos
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Saudi Med J
Año:
2024
Tipo del documento:
Article
Pais de publicación:
ARABIA SAUDITA
/
ARÁBIA SAUDITA
/
SA
/
SAUDI ARABIA