A boy with Alagille syndrome coexisting with mid-aortic syndrome and renovascular hypertension.

BACKGROUND

Alagille syndrome (ALGS) is characterized by cholestasis due to paucity of intrahepatic bile ducts, cardiac anomalies, ophthalmologic abnormalities, skeletal abnormalities, and characteristic facies. Mid-aortic syndrome (MAS) is a rare entity characterized by segmental narrowing of the proximal abdominal aorta and ostial stenosis of its major branches. We report a case of ALGS with MAS involving severe renal artery stenosis (RAS).

CASE: A four-year-old Japanese boy was referred to our hospital because of cholestatic liver dysfunction. He was diagnosed with ALGS due to having all five characteristic hallmarks. He had high blood pressure (152/84 mmHg) at his first visit. 3D-CT angiography showed coarctation of the abdominal aortic trunk, severe ostial stenosis of the celiac artery, superior mesenteric artery, and bilateral RAs. He was diagnosed with MAS, and treated with metoprolol, cilnidipine, and aspirin.

DISCUSSIONS: While vascular abnormalities are reported to occur in 9% of ALGS patients, MAS with ALGS was only reported in 11 patients between 1951 and 2011. In Japan, there were no reports of ALGS coexisting with MAS with the exception of one case with RAS. In addition to the vessels of the heart, it is important to examine patients with ALGS for abnormalities of other vessels.<Learning objective: Mid-aortic syndrome (MAS) is a rare entity characterized by segmental narrowing of the proximal abdominal aorta and ostial stenosis of its major branches. While MAS is a very rare complication in case of Alagille syndrome (ALGS), it results in significant morbidity and mortality. Thus, surveillance for vascular abnormalities not only in the heart but also other vessels is important in ALGS.>.