伴有多种中枢神经系统异常的II型先天性无巨核细胞性血小板减少症
Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies.
作者信息
Eshuis-Peters Ellis, Versluys Anne Brigitta, Stokman Marijn Fijke, van der Crabben Saskia Nanette, Nij Bijvank Sebastiaan W A, van Wezel-Meijler Gerda
机构信息
Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Department of Pediatric Hematology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
出版信息
Neuropediatrics. 2016 Apr;47(2):128-31. doi: 10.1055/s-0036-1571800. Epub 2016 Feb 8.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria, underdevelopment of the cerebellum, and multiple intracranial hemorrhages.
先天性无巨核细胞血小板减少症（CAMT）是一种由MPL基因突变引起的罕见常染色体隐性骨髓衰竭。CAMT与中枢神经系统异常同时出现的情况并不常见。我们描述了一例存在纯合错义MPL基因突变且伴有多小脑回、小脑发育不全和多处颅内出血的病例。
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