Nonhepatic Alagille Syndrome Associated With Predominant Cardioskeletal Anomalies: A Rare Case

Abstract

Alagille syndrome (ALGS) is a rare autosomal dominant genetic disorder with multisystem involvement including the liver, heart, skeleton, eyes, kidneys, and other organ systems, along with characteristic facial abnormalities. Some patients with ALGS may have isolated involvement of a particular system, such as a heart defect like the tetralogy of Fallot, an atrial septal defect (ASD), a characteristic facial appearance, or an isolated vertebral body anomaly. These individuals may or may not have liver anomalies or other features typically seen in the disorder. We report the case of a four-year-old female child with moderate ostium secundum ASD and branch pulmonary artery stenosis diagnosed since three months of age who presented with classical features of facial dysmorphism, posterior embryotoxon in the right eye, butterfly presentation of the T5 vertebra, delayed mental development, and history of recurrent infections. Bilateral branch pulmonary artery plasty with glutaraldehyde-treated pericardial patch and direct closure of the ASD leaving a patent foramen ovate was performed to correct the cardiac malformations. The surgery was uneventful without any postoperative complications. Currently, as no curative management of the disorder is available, the syndromic medical and surgical approach remains the mainstay in managing this condition.