L'acidurie arginino-succinique A propos du premier cas Tunisien a revelation neonatale

ABSTRACT

The authors report a first Tunisian case of arginino-succinic acidura of a new-born from a consanguin parents admitted in secondf day of life with neurologic distress. The diagnosis oriented by the clinical patterns and the familial history has been confirmed by the amino-acid chromatography. The case presented is characterised by a fatal cardiac failure that has been associated with a classical neurologic distress