1.
Neuropediatrics
; 47(2): 128-31, 2016 Apr.
Article
in English
| MEDLINE
| ID: mdl-26854587
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.