L2-hydroxyglutaric aciduria in a 5-year-old child: a case report

Case presentation: EMS, 5 years old, 1st child of a non-consanguineous couple, with no relevant antecedents, have started neuropsychomotor development regression at 2 old. The parents noticed slower speech, in addition to bad concentration. At the first appointment tertiary pediatric neurology service city São Paulo, patient had lowered cognitive level for his age, bradylalia and dysarthria. He an unsupported gait, on tiptoe, slightly enlarged base. eye examination, inborn error metabolism trial, cerebrospinal fluid general serum exams were normal. Cranial magnetic resonance imaging showed bilateral symmetrical involvement basal ganglia dentate nuclei, associated changes supratentorial white matter. A genetic panel was collected, confirming L2-glutaric aciduria, pathogenic variants L2HGDH.