%0 Journal Article
%T S赤ndrome de Alagille: Presentaci車n de un caso Alagilles syndrome: report of a case
%A Mar赤a Elsy Sep迆lveda Hincapi谷
%A Nora Luz Yepes Palacio
%A Fernando Alberto Guti谷rrez Mendoza
%J Iatreia
%D 1999
%I Universidad de Antioquia
%X Se presenta el caso de un paciente con diagn車stico de s赤ndrome de Alagille, quien consult車 por colestasis cr車nica iniciada en el per赤odo neonatal y cuyo diagn車stico se estableci車 a los cinco meses de edad. El paciente tuvo como manifestaciones mayores del s赤ndrome, adem芍s de la colestasis, la facies caracter赤stica, v谷rtebras en mariposa y soplo card赤aco. Como manifestaci車n menor, retardo del crecimiento. El estudio histol車gico demostr車 disminuci車n de los conductos biliares interlobulares. El paciente evolucion車 con colestasis persistente e hipertensi車n porta; falleci車 a la edad de cuatro a os por insuficiencia hep芍tica. El estudio postmortem del h赤gado demostr車 cirrosis sin cambios neopl芍sicos. A patient with chronic cholestasis beginning during his neonatal period is reported. Diagnosis was made at the age of five months. In adition, the patient had the characteristic facies, failure of anterior vertebral arch fusion (butterfly vertebrae), and cardiac murmur, as major clinical manifestations of the syndrome; also he had growth retardation, a minor clinical manifestation. Histologic features revealed paucity of interlobular biliar ducts. Cholestasis persisted and the patient began to have portal hypertension and died at the age of four years with hepatic failure. Postmortem studies showed a hepatic cirrhosis without neoplasic changes.
%K colestasis
%U http://www.iatreia.udea.edu.co/index.php/iatreia/article/view/383