Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy.

Abstract

Alagille syndrome (arteriohepatic dysplasia) is a congenital disorder that can affect the liver, heart, eye, skeleton, and facial appearance.1,,2 It is associated with bile duct paucity and is an important cause of neonatal jaundice and cholestasis in older children.3 The most common cardiac malformation associated with Alagille syndrome is peripheral pulmonary stenosis.4 This syndrome has an autosomal dominant inheritance with variable penetrance, although sporadic cases are common.3 We present two children with sporadic Alagille syndrome who also suffered from moyamoya syndrome, a rare idiopathic intracranial vasculopathy. We hypothesize that this cerebrovascular abnormality may be part of a spectrum of vascular disease that can occur in Alagille syndrome. ### Case 1 A 2-month-old Caucasian girl was diagnosed with Alagille syndrome when she presented with jaundice, pruritis, and failure to thrive. A liver biopsy demonstrated a paucity of bile ducts. Echocardiography revealed pulmonary valvular and pulmonary artery stenosis with right ventricular hypertrophy. Other characteristic features of Alagille syndrome included posterior embryotoxon on eye examination (thickened Schwalbe's ring in the anterior chamber) and butterfly vertebrae (T4 and T7) on spine films. At 1 year of age, the patient underwent a balloon angioplasty of the left pulmonary artery because of severe stenosis. Postoperatively, she was noted to have right arm and leg weakness. Head computed tomography (CT) performed the following day showed decreased attenuation of periventricular white matter in the left frontal lobe. It was thought that she had had an embolic ischemic event affecting the left hemisphere. She regained good function of the right side within weeks. At 21 months of age, the patient developed sudden weakness of the right arm. Magnetic resonance imaging (MRI) demonstrated increased T2-weighted signal intensities in the cortical gyri of the left frontal and parietal lobes associated with enlargement of the left lateral ventricle (Fig …