MACROCEPHALY, DYSTONIA, AND BILATERAL TEMPORAL ARACHNOID CYSTS - GLUTARIC ACIDURIA TYPE-1

Two siblings presented with macrocephaly, psychomotor delay, and progr essive dystonia. The initial diagnosis was of hydrocephalus and bilate ral temporal cerebrospinal fluid collections. Following ventriculoperi toneal shunting, the patients showed only modest neurological improvem ent. Metabolic investigations performed later in the course of the dis ease disclosed increased levels of glutaric acid in the urine and decr eased levels of serum carnitine, which were confirmatory of glutaric a ciduria type 1. The association of macrocephaly, dystonia, and bilater al temporal arachnoid cysts, shown either by computed tomography or ma gnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.