Carmen Rosa Cerron-Vela, Luis Octavio Tierradentro-García, Zekordavar Lavadka Rimba, Savvas Andronikou
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引用次数: 0
Abstract
Purpose: Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with highly variable expression. Intracranial arterial and venous anomalies have a reported prevalence of 30-40% and can increase the risk of stroke by 16%. Few reports document the frequency and evolution of cerebrovascular abnormalities (CVAs) in children with ALGS. We aimed to define the spectrum, frequency, and evolution of CVAs in a series of children with ALGS using magnetic resonance angiography (MRA).
Methods: We conducted a single-center, retrospective study in a large tertiary pediatric hospital. CVAs were grouped into 4 categories: 1) Stenosis or narrowing; 2) Aneurysms and ectasias; 3) Tortuosity; and 4) Vascular anomalies and anatomical variants.
Results: Thirty-two children met the inclusion criteria. The median age at initial diagnosis was 6 (3.8-10.3) years. Thirteen (40%) had follow-up MRI at a mean of 55 (31.5-66) months. Eighteen (56%) had CVAs; the most frequent fell into group 1 (n = 12, 37.5%). CVAs were stable over time, except for one patient with Moyamoya arteriopathy (MMA). One patient developed a transient ischemic attack secondary to an embolic event. Three (9.3%) had microhemorrhages at the initial diagnosis secondary to Tetralogy of Fallot. Another patient had recurrent subdural hematomas of unknown cause.
Conclusion: CVAs were stable except in the presence of MMA. Vascular strokes, which are reported in older patients with ALGS, were not a common feature in children under 16 years of age, either at presentation or over the 31.5-66 month follow-up period.
期刊介绍:
Neuroradiology aims to provide state-of-the-art medical and scientific information in the fields of Neuroradiology, Neurosciences, Neurology, Psychiatry, Neurosurgery, and related medical specialities. Neuroradiology as the official Journal of the European Society of Neuroradiology receives submissions from all parts of the world and publishes peer-reviewed original research, comprehensive reviews, educational papers, opinion papers, and short reports on exceptional clinical observations and new technical developments in the field of Neuroimaging and Neurointervention. The journal has subsections for Diagnostic and Interventional Neuroradiology, Advanced Neuroimaging, Paediatric Neuroradiology, Head-Neck-ENT Radiology, Spine Neuroradiology, and for submissions from Japan. Neuroradiology aims to provide new knowledge about and insights into the function and pathology of the human nervous system that may help to better diagnose and treat nervous system diseases. Neuroradiology is a member of the Committee on Publication Ethics (COPE) and follows the COPE core practices. Neuroradiology prefers articles that are free of bias, self-critical regarding limitations, transparent and clear in describing study participants, methods, and statistics, and short in presenting results. Before peer-review all submissions are automatically checked by iThenticate to assess for potential overlap in prior publication.