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A Rare Case of Alagille Syndrome



Author(s)
Gaurav Sharma, Micheal Megaly, Taimur Abbasi
Author Affiliation(s)
Department of Internal Medicine, Mercy Hospital & Medical Center, Chicago, IL60616, USA
Corresponding Author(s)
Taimur Abbasi (E-mail: taimurabbasimd@gmail.com); Gaurav Sharma (E-mail: gauravsk6@yahoo.com)
Subject Areas
Cardiology; Clinical examinations; Clinical medicine; Diagnostic medicine; Internal medicine; Medical imaging


Abstract
Alagille Syndrome (AGS) is an uncommon autosomal dominant disease with a prevalence of about 1 in 100,000 live births with equal incidence among males and females. It is an underdiagnosed entity with a variable clinical presentation and variable prognosis. Clinically it most commonly manifests with neonatal jaundice, defective development of the hepatic biliary ducts in addition to defects associated with the ophthalmic, cardiac, renal and skeletal systems. The severity of the hepatic and cardiac involvement has a direct bearing on prognosis. Nearly 97% of patients diagnosed with AGS have cardiovascular abnormalities. We report here a case of AGS in a young patient with pulmonary artery stenosis, to add to the limited collective pool of knowledge about this disease.


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