ALAGILLE SYNDROME: A CASE REPORT

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MALAKNEJAD SH.; MOSHREF M.

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Paper Information

Journal: Journal of Guilan University of Medical Sciences Year:2013 | Volume:21 | Issue:84 Page(s): 83-87

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Information Journal Paper

Title

ALAGILLE SYNDROME: A CASE REPORT

Author(s)

MALAKNEJAD SH. | MOSHREF M. | Issue Writer Certificate

Keywords

ALAGILLE SYNDROMEQ2

CHOLESTASISQ2

PULMONARY VALVE STENOSISQ2

Abstract

Introduction: ALAGILLE SYNDROME is a syndrome associated with decreased number of intrahepatic bile ducts, and various manifestations. The incidence rate is approximately 1 in 100000 births. It is an autosomal dominant disease with variable expression and is caused by mutation in JAG1 or NOTCH2 genes. To make a diagnosis of ALAGILLE SYNDROME, a positive liver biopsy and the presence of three of the following symptoms are usually required: liver symptoms, heart abnormalities, skeletal abnormalities, posterior embryotoxon, typical facial features.Case report: We report a 15 month old infant with failure to thrive and increased liver enzyme and CHOLESTASIS with peripheral ps and vertebral anomaly and posterior embryotoxon in eye with paucity of intrahepatic bile ducts in liver biopsy, so ALAGILLE SYNDROME was diagnosed with positive liver biopsy and four major criteria. Then, he was treated with Ursodeoxycholic acid capsule and improved in liver function, growth and development.Conclusion: ALAGILLE SYNDROME should be considered in patients with hepatic and cardiac involvement, because features in ALAGILLE SYNDROME are various and some children may present with life threatening conditions whereas others may be subclinical cases.

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APA: Copy

MALAKNEJAD, SH., & MOSHREF, M.. (2013). ALAGILLE SYNDROME: A CASE REPORT. JOURNAL OF GUILAN UNIVERSITY OF MEDICAL SCIENCES, 21(84), 83-87. SID. https://sid.ir/paper/39913/en

Vancouver: Copy

MALAKNEJAD SH., MOSHREF M.. ALAGILLE SYNDROME: A CASE REPORT. JOURNAL OF GUILAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2013;21(84):83-87. Available from: https://sid.ir/paper/39913/en

IEEE: Copy

SH. MALAKNEJAD, and M. MOSHREF, “ALAGILLE SYNDROME: A CASE REPORT,” JOURNAL OF GUILAN UNIVERSITY OF MEDICAL SCIENCES, vol. 21, no. 84, pp. 83–87, 2013, [Online]. Available: https://sid.ir/paper/39913/en

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