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.
Original language | English |
---|---|
Pages (from-to) | 128-131 |
Number of pages | 4 |
Journal | Neuropediatrics |
Volume | 47 |
Issue number | 2 |
DOIs | |
Publication status | Published - Apr 2016 |
Keywords
- Central Nervous System
- Cerebellum
- Gestational Age
- Humans
- Infant
- Intracranial Hemorrhages
- Male
- Mutation, Missense
- Polymicrogyria
- Receptors, Thrombopoietin
- Thrombocytopenia
- congenital
- amegakaryocytic
- thrombocytopenia
- CAMT
- MPL
- CNS