Focal dystonia in an adult with L-2- hydroxyglutaric aciduria

Authors

• Saleem AlBalawy, From the Neurology Department (Saleem), Al-Iman General Hospital; from the Radiology Department (Ul Islam), King Salman Hospital; form the Laboratory Department (Tasbahji), Al-Iman General Hospital, Riyadh, Kingdom of Saudi Arabia
• Noura Tasbahji, From the Neurology Department (Saleem), Al-Iman General Hospital; from the Radiology Department (Ul Islam), King Salman Hospital; form the Laboratory Department (Tasbahji), Al-Iman General Hospital, Riyadh, Kingdom of Saudi Arabia

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.

Article Type

Case Report

First Page

745

Last Page

748

Recommended Citation

AlBalawy, Saleem and Tasbahji, Noura (2024) "Focal dystonia in an adult with L-2- hydroxyglutaric aciduria," Saudi Medical Journal: Vol. 45: Iss. 7, Article 14.
DOI: https://doi.org/10.15537/smj.2024.45.7.20230325