Ultrasound imaging of the hepatobiliary system, kidneys, and heart in infant with Alagille syndrome (case report)

Alagille syndrome is a multisystem autosomal dominant disorder. The diagnostic criteria are morphologically proven intrahepatic bile duct hypoplasia and at least three of the five main clinical signs: cholestasis, congenital cardiac defects, skeletal anomalies, ophthalmologic abnormalities, and characteristic facial features. Renal involvement is considered as an additional diagnostic criterion. The article presents a case report of Alagille syndrome in a male child with the follow-up during the first 18 month of life. A single nucleotide substitution с.550C>T(р.Arg184Cys) in a heterozygous state in exon 4 was found in JAG1 molecular genetic testing confirmed the diagnosis. Ultrasound revealed an abnormal shape of the gallbladder (a balloon on a string sign), hyperechoic renal cortex, elongated shape of pyramids, and multiple cysts in its projection, enlarging with age. Peripheral pulmonary artery stenosis was moderate, not required any treatment, and decreased with age. The ultrasound signs of hepatobiliary system, kidneys, and heart abnormality may be used for diagnosis of cholestasis causes in young children with Alagille syndrome and for timely determination of treatment strategy.

ultrasound, Alagille syndrome, cholestasis syndrome, infants

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