201. [Endocrinologic and metabolic complications of Alagille syndrome].
- Author
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Hofbauer LC, Mrozek-Lasota A, Jelinek T, Schworm HD, Zimmermann D, and Heufelder AE
- Subjects
- Adult, Alagille Syndrome diagnosis, Cholestasis, Intrahepatic chemically induced, Cholestasis, Intrahepatic diagnosis, Contraceptives, Oral, Hormonal administration & dosage, Contraceptives, Oral, Hormonal adverse effects, Desogestrel administration & dosage, Desogestrel adverse effects, Dwarfism, Pituitary diagnosis, Ethinyl Estradiol administration & dosage, Ethinyl Estradiol adverse effects, Female, Humans, Rickets diagnosis, Spinocerebellar Degenerations diagnosis, Spinocerebellar Degenerations etiology, Vitamin D Deficiency diagnosis, Alagille Syndrome complications, Dwarfism, Pituitary etiology, Rickets etiology, Vitamin D Deficiency etiology
- Abstract
Background: Patients with gastrointestinal and hepatobiliary disorders, either congenital or acquired early in childhood, are at high risk for various endocrine and metabolic abnormalities., Case Report: A 27-year-old woman with Alagille's syndrome presented with progressive jaundice and gait disturbances following surgery and ingestion of oral contraceptives. 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 levels of haptoglobin, zinc, vitamin D and E were decreased. Although prehepatic 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 working 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 and her neurologic symptoms markedly improved., Conclusion: This clinicopathological conference of a patient with Alagille's syndrome illustrates the clinical presentation and therapy of metabolic and endocrine complications in chronic cholestasis.
- Published
- 1997
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