Case reportSubarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome – A rare cause of sudden death
Introduction
Alagille syndrome (AGS) or arteriohepatic dysplasia was first described by the French pediatrician Daniel Alagille in 1969 [1]. The prevalence of AGS has been reported as 1 in 100,000 live births [2]. AGS is an autosomal dominantly inherited disorder and it is mainly characterized by the reduction of the number of bile ducts leading to cholestasis and by multiple organ system involvement: cardiovascular system (peripheral pulmonary artery stenosis), eyes (posterior embryotoxon), skeleton (butterfly-like vertebral arch defects) and kidneys. It is associated with characteristic facial features with a small face, prominent forehead and hypertelorism of the deep set eyes [3], [4], [5]. An affection of the nervous and endocrine system has also been described [2], [3].
Intracranial vessel abnormalities and other vascular lesions are also present in AGS [6], [7], [8]. One case with lethal cerebral vascular lesion is presented.
Section snippets
Case report
A 25-year-old woman with AGS was unexpectedly found dead in her bed. At the age of 7 and 8 she had liver transplantations. Facial dysplasia, peripheral pulmonary artery stenosis (state following balloon dilatation and stent implantation) and vertebral anomalies as well as renal dysplasia were already diagnosed.
The young woman had been in a comparatively good health condition over the last few years and led a normal life. She consulted a doctor for routine diagnostic procedures regularly. 4 weeks
Discussion
AGS is the most common inherited disorder that causes liver disease in children caused by mutations of the JAG1 gene that encodes Jagged1 which is a ligand in the Notch receptor signaling pathway [9], [10], [11]. The Notch receptor is involved in the fetal development of various organs, which explains the multisystemic appearance. The receptor plays an important role in the organ and the vascular development [8], [9], [10]. Mutations are especially associated with an impaired development of the
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