Morbidity in Alagille syndrome in 6 Malaysian children

We retrospectively studied the records of 6 Malaysian children who were diagnosed with Alagille Syndrome (AGS) according to this criteria from January 1999 to January 2001, at the Institute of Paediatrics, Kuala Lumpur Hospital. Four patients (66%) had a positive family history. Thirteen individuals (6 patients and 7 relatives) were diagnosed with AGS in these 5 families. Only 6/13 (46%) of them presented with liver involvement. All 6 patients presented with typical facies and cholestasis (100%). Three (50%) presented with portal hypertension (PHT) with synthetic liver dysfunction (1 died), 1/6 (17%) have PHT and normal synthetic liver function. Two have cleared their jaundice but have biochemical evidence of hepatitis and hepatomegaly, four have congenital heart disease 5/6 posterior embryotoxon, 2/6 butterfly vertebrae, 4/6 hyperlipidaemia and 4/6 failure to thrive. One patient has a Jagged-1 gene disruption at the translocation breakpoint locus 20p12.3 2n = 46,XX,t(12.20) (q22, p12.3). 5/6 (83%) are still alive. Two-thirds of our patients developed chronic liver disease by 3 years of age. Two-thirds of the index patients have a family history. Only 46% of individuals in these families have clinical evidence of liver involvement. Mortality depends on cardiac/renal disease, end-stage liver failure and intercurrent infection.

Síndrome de Alagille: un caso de evolución poco habitual / Alagille's syndrome: a case of unusual evolution

Se presenta la historia clínica de una niña con Síndrome de Alagille con la finalidad de jerarquizarlo como causa de colestasis neonatal y discutir presentación no habitual en esta paciente. Se trata de una niña de 21 meses en la que se diagnosticó el síndrome, a los 4 meses de edad, en su forma completa (colestasis crónica por escasez de conductos biliares, facies peculiar, embriotoxoma posterior, defecto de los arcos vertebrales y alteraciones cardiovasculares). Presentó una evolución no habitual con colestasis intensa que no se modificó con el tratamiento colerético, con gran repercusión nutricional y evolución a la insuficiencia hepatocítica e hipertensión portal. Se planteó el trasplante hepático como posibilidad terapéutica, no pudiendo realizarse. Falleció a los 21 meses comprobándose hemorragia pulmonar en la necropsia. Se destaca que el mejor conocimiento de esta enfermedad permitirá el diagnóstico precoz de la misma