Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies
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Publication date
2016-04
Authors
Peters, E. J. G.
Versluijs, Birgitta
Stokman, Marijn F
van der Crabben, Saskia N
Nij Bijvank, Sebastiaan W A
van Wezel-Meijler, Gerda
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Abstract
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.
Keywords
Central Nervous System, Cerebellum, Gestational Age, Humans, Infant, Intracranial Hemorrhages, Male, Mutation, Missense, Polymicrogyria, Receptors, Thrombopoietin, Thrombocytopenia, congenital, amegakaryocytic, thrombocytopenia, CAMT, MPL, CNS, Journal Article
Citation
Eshuis-Peters, E, Versluys, A B, Stokman, M F, van der Crabben, S N, Nij Bijvank, S W A & van Wezel-Meijler, G 2016, 'Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies', Neuropediatrics, vol. 47, no. 2, pp. 128-131. https://doi.org/10.1055/s-0036-1571800