RT Journal Article
SR Electronic
T1 Focal dystonia in an adult with L-2- hydroxyglutaric aciduria
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 745
OP 748
DO 10.15537/smj.2024.45.7.20230325
VO 45
IS 7
A1 AlBalawy, Saleem
A1 Ul Islam, Syed Shafqat
A1 Tasbahji, Noura
YR 2024
UL http://smj.org.sa/content/45/7/745.abstract
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.