ENDOCRINE AND METABOLIC COMPLICATIONS IN ALAGILLES-SYNDROME

Background: Patients with gastrointestinal and hepatobiliary disorders , either congenital or acquired early in childhood, are at high risk f or various endocrine and metabolic abnormalities. Case report: A 27-ye ar-old woman with Alagille's syndrome presented with progressive jaund ice and gait disturbances following surgery and ingestion of oral cont raceptives. On physical examination, short stature, facial dysmorphism and neuromuscular symptoms such as polyneuropathy and spinocerebellar ataxia were noted. Serum concentrations of total bilirubin (54 mg/dl) and alkaline phosphatase were markedly increased, whereas serum level s of haptoglobin, zinc, vitamin D and E were decreased. Although prehe patic or intrahepatic etiologies of jaundice were more likely in this patient, posthepatic etiologies were ruled out by abdominal ultrasound and endoscopic retrograde cholangio-pancreaticography. Based on a wor king diagnosis of acute drug-induced cholestasis, treatment with high doses of lipid-soluble vitamins and ursodeoxycholic acid was initiated . In response to therapy, her abnormal laboratory results normalized a nd her neurologic symptoms markedly improved. Conclusion: This clinico pathological conference of a patient with Alagille's syndrome illustra tes the clinical presentation and therapy of metabolic and endocrine c omplications in chronic cholestasis.