Metabolic stroke in carbamyl phosphate synthetase deficiency

Stroke-like episodes with hemiparesis have been described in children with different inherited metabolic diseases. We report the novel observation of a severe stroke as the presenting sign in an 18-month-old girl with carbamyl phosphate synthetase (CPS) deficiency. MRI revealed infarction within the territory of the right middle cerebral artery. Localized 1H-NMR spectroscopy showed elevation of glutamine (at 2.0-2.5 and 3.7 ppm) and lactate within the region of infarction. CPS activity in the liver was reduced (2.5 mU/ mg protein, n = 12-35). On a protein-restricted diet including arginine supplementation, the child has developed well with moderate mental retardation: no neurologic relapses have been observed over a period of 4 years. CPS deficiency has to be added to the list of metabolic diseases that may lead to stroke-like episodes. In every case of unclear hemiparesis in childhood, urea cycle defects should be included in the differential diagnosis.