Cerebral Multicystic Lesions in a Child With L-2 Hydroxyglutaric Aciduria: A Rare Disease and a Rare Association

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A 10-year-old boy presented with macrocephaly. He was the family's second child; the first child was followed in our clinic with a diagnosis of L-2 hydroxyglutaric aciduria (L2HGA). Physical examination showed a body weight of 35 kg (<third percentile), height of 175 cm, (<third percentile), and head circumference of 57.5 cm (75-90th percentile). Neurological examination showed cerebellar dysfunction and mild mental retardation.