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Neuropediatrics 1997; 28(4): 229-234
DOI: 10.1055/s-2007-973705
Original articles

© Hippokrates Verlag GmbH Stuttgart

Metabolic Stroke in Carbamyl Phosphate Synthetase Deficiency

W. Sperl1 , S. Felber2 , D. Skladal1 , B. Wermuth3
  • 1Department of Pediatrics, University of Innsbruck, Austria
  • 2Department of Magnetic Resonance, University of Innsbruck, Austria
  • 3Department of Clinical Chemistry, University of Berne, Switzerland
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Publication History

Publication Date:
13 March 2007 (online)

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Abstract

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.

Key words

Stroke - Urea cycle defect - Carbamyl phosphate synthethase

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