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.
Saudi Med J. 2024 Jul;45(7):745-748. doi: 10.15537/smj.2024.45.7.20230325.
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.
L-2-羟戊二酸尿症（L-2-HGA）是一种罕见的疾病。患者通常在儿童期出现精神运动发育迟缓、共济失调、大头畸形和癫痫。我们报告了一例 L-2-HGA 患者，他在 30 多岁时出现了肌张力障碍。家族报告称，患者自童年起就出现进行性精神运动倒退的症状。评估时，患者存在高级精神功能轻度损害、轻度外斜视和右手肌张力障碍。脑 MRI 显示双侧弥漫性对称性皮质下白质高信号。尿液中 2-羟戊二酸升高，全基因组测序显示 L-2-羟戊二酸脱氢酶（L2HGDH）基因存在均质致病性变异。向照顾者解释了预后。具有轻度表型的 L-2-HGA 患者可能在成年后仍未被诊断。即使没有癫痫发作的情况下出现肌张力障碍的病例，也应通过 MRI-脑、尿液检查和基因检测进行调查，以排除 L-2-HGA。
