Massive ribs fractures due to artriohepatic dysplasia (Alagille syndrome): a case report.

Abstract

Abstract Alagille syndrome (ALGS) is a rare multisystem congenital disorder, with a minimum incidence of approximately 1:30,000 live births. It is an autosomal dominant disease that arises from mutations in the Jagged1 (JAG1) gene (approximately 60% of cases are caused by de novo mutations), which encodes a ligand for Notch receptors. The most common symptoms associated with this syndrome are cholestasis with the obstruction or slowing of biliary flow, congenital heart disease (pulmonary artery stenosis), and butterfly-shaped vertebrae, anterior chamber eye defects, and dysmorphic faces. Several of the characteristics of Alagille syndrome may result in patients having an especially high risk of fracture. The majority of patients suffer from chronic cholestasis, which can have a variety of adverse effects on bone metabolism. Case presentation; A 6-months-old girl admitted to pediatric surgery unit with jaundice since one month of age, progressive abdominal distention. She had been diagnosed with biliary atresia at the age of 1 month on the base of clinical diagnosis, she was malnourished with stunted growth. She had most of the features of Alagille syndrome. Chest radiographs showed generalized decreased in bone density with multiple ribs fractures on the left side, with pulmonary consolidation in the left middle and lower zone. Osteodystrophy (haptic cause) was enrolled based on the fact that there was no evidence or history of trauma (child abuse by the family was not considered). Our study is one of a few reports to document ribs fracture in children with AGLS.