PT  - JOURNAL ARTICLE
AU  - AlBalawy, Saleem
AU  - Ul Islam, Syed Shafqat
AU  - Tasbahji, Noura
TI  - Focal dystonia in an adult with L-2- hydroxyglutaric aciduria
AID  - 10.15537/smj.2024.45.7.20230325
DP  - 2024 Jul 01
TA  - Saudi Medical Journal
PG  - 745--748
VI  - 45
IP  - 7
4099  - http://smj.org.sa/content/45/7/745.short
4100  - http://smj.org.sa/content/45/7/745.full
SO  - Saudi Med J2024 Jul 01; 45
AB  - 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.