[Pyridoxin-resistant homocystinuria. Apropos of a case with early thromboembolic complications].
The authors report a case of homocystinuria diagnosed in a 2 year-old boy presenting with psychomotor retardation and with widespread cerebral vascular thromboses, unusually severe at that age. The disease was of the pyridoxin-resistant type, for which use of remethylation activators led to a good biological result.
D002675:Child, Preschool; D003555:Cystinuria / Q000150:complications* / Q000188:drug therapy; D004351:Drug Resistance; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000209:etiology*; D008297:Male; D011596:Psychomotor Disorders / Q000209:etiology; D011736:Pyridoxine / Q000627:therapeutic use*
D011736:Pyridoxine
Homocystinurie pyridoxino-résistante. A propos d'un cas avec accidents thromboemboliques précoces.