Dados do Trabalho

Título

ALAGILLE SYNDROME AND MOYAMOYA VASCULOPATHY: A PATTERN THAT CANNOT BE FORGOTTEN

Apresentação do caso

A 2-year-old girl presented at our hospital with sudden onset of left hemiparesis after a cardiac intervention. She had dysmorphic face with broad forehead, deep-set eyes, prominent ears and pointed chin. She already had the diagnosis of Tetralogy of Fallot and was submitted to liver transplantation at 1 year old due to cholestasis since birth. Hepatic biopsy showed paucity of biliary ducts.
A brain CT demonstrated acute stroke in right internal capsule. Four months after, an MRI angiography showed new stroke in the right middle and inferior frontal gyri and irregularities with focal narrowing in the middle/distal third in right M1 and A1 segment and recruitment of multiple vascular structures with perforating collateralization. This pattern is compatible with unilateral moyamoya syndrome (MMS). Considering typical findings (heart malformation, liver failure, dysmorphic face) associated with vascular involvement, Alagille’s Syndrome (AS) was diagnosed.

Discussão

AS is an multisystemic autosomal dominant condition with a wide spectrum of clinical manifestations characterized for dysmorphic facial features, posterior embryotoxon, axial skeletal defects, pulmonary arterial hypoplasia and intrahepatic cholestasis with paucity of biliary ducts. Cerebrovascular vasculopathy are reported in 10% of patients, including aneurisms, dolichoectasia and MMS. The disease is caused for mutation on JAG1 (97% of cases) and NOTCH2 genes. Both participates in angiogenesis pathways modulating vascular development. MMS is an intracranial arteriopathy that causes progressive narrowing of distal parts of internal carotid artery and its branches with compensatory dilatation of smaller branches forward and collateral recruitment. It is a rare finding, being reported a few times associated with AS, with both unilateral and bilateral patterns. The diagnosis of AS is established by liver biopsy, presence of classical symptoms or genetic test. The treatment is directed to the affected organ and requires a multidisciplinary follow up. For cerebrovascular disease, there are reports of antiplatelet drugs and revascularization.

Comentários finais

AS is a rare condition with multisystem nature and potential severity. It should be remembered as a cause of stroke, both ischemic and hemorrhagic. Besides cardiac involvement, MMS is a rare condition that cannot be forgotten. The diagnosis is important for patient follow-up, risk stratification and prognosis.

Palavras Chave

Alagille; Moyamoya; Stroke

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