Congenital amegakaryocytic thrombocytopenic purpura (CAMT).
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone.
Department of Paediatric Medicine, Fatima Memorial Hospital, Lahore.
Rooha Ijaz
RI
Ghauri
Department of Paediatric Medicine, Fatima Memorial Hospital, Lahore.
Muhammad
M
Naveed
Department of Paediatric Medicine, Fatima Memorial Hospital, Lahore.
Jovaria
J
Mannan
D000970:Antineoplastic Agents / Q000627:therapeutic use; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D016026:Bone Marrow Transplantation; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010198:Pancytopenia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D011239:Prednisolone / Q000627:therapeutic use; D011696:Purpura, Thrombocytopenic / Q000150:complications / Q000235:genetics / Q000473:pathology; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D018805:Sepsis / Q000209:etiology; D013921:Thrombocytopenia / Q000235:genetics / Q000473:pathology* / Q000628:therapy*; D016896:Treatment Outcome
D000970:Antineoplastic Agents; D053628:Receptors, Thrombopoietin; D011239:Prednisolone