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.
Georg Thieme Verlag KG Stuttgart · New York.
MeSH terms
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Central Nervous System / abnormalities*
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Cerebellum / abnormalities
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Congenital Bone Marrow Failure Syndromes
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Gestational Age
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Humans
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Infant
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Intracranial Hemorrhages / complications
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Intracranial Hemorrhages / congenital
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Male
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Mutation, Missense
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Polymicrogyria / complications*
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Receptors, Thrombopoietin / genetics*
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Thrombocytopenia / complications*
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Thrombocytopenia / diagnosis*
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Thrombocytopenia / genetics*
Substances
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Receptors, Thrombopoietin
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MPL protein, human
Supplementary concepts
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Congenital amegakaryocytic thrombocytopenia