title: Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies.
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.
authors: Department of Neonatology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors: Ellis
authors: E
authors: Eshuis-Peters
authors: Department of Pediatric Hematology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors: Anne Brigitta
authors: AB
authors: Versluys
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors: Marijn Fijke
authors: MF
authors: Stokman
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors: Saskia Nanette
authors: SN
authors: van der Crabben
authors: Department of Obstetrics and Gynaecology, Isala, Zwolle, The Netherlands.
authors: Sebastiaan W A
authors: SW
authors: Nij Bijvank
authors: Department of Neonatology, Isala, Zwolle, The Netherlands.
authors: Gerda
authors: G
authors: van Wezel-Meijler
mesh_terms: D002490:Central Nervous System / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D000080984:Congenital Bone Marrow Failure Syndromes; D005865:Gestational Age; D006801:Humans; D007223:Infant; D020300:Intracranial Hemorrhages / Q000150:complications / Q000151:congenital; D008297:Male; D020125:Mutation, Missense; D065706:Polymicrogyria / Q000150:complications*; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D013921:Thrombocytopenia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human