[L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood]

Introduction. Organic acidurias are a group of hereditary metabolic disorders characterized by an increase in excretion of organic acids in urine. L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and cerebral atrophy in neuroimaging studies. Biochemical diagnosis was based on the detection of high levels of L-2 hydroxyglutaric acid in body fluids. Clinical case. We present the case of a 42 year old male patient with psychomotor development delay, generalized tonic epileptic crisis, and ataxia and pyramidal syndrome after the age of 18 months. Neuroimaging study findings revealed subcortical leukoencephalopathy. Diagnosis of the disease was reached after measuring the level of L-2 hydroxyglutaric acid in body fluid (blood, urine and cerebrospinal fluid). This diagnosis was also confirmed in three of the patient's brothers who were affected by a non-filial neurological disease by measurement of this acid level in urine. The genetic study was performed in all the cases. Discussion. As with the majority of patients who reach adulthood without having been diagnosed of this disease during infancy, we believe that this disorder should be considered as a possibility in adults presenting a combination of the symptoms described and subcortical encephalopathy in magnetic resonance imaging, regardless of whether there is a family background of it. Thus, it should be included in the differential diagnosis of leukodystrophy in adult patients.