Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life

Pediatric Blood and Cancer

Volumn 60, Issue 9, 2013, Pages

  Stoddart, Michael T ^a   Connor, Philip ^b   Germeshausen, Manuela ^c   Ballmaier, Matthias ^c   Steward, Colin G ^d  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b CHILDREN S HOSPITAL FOR WALES   (United Kingdom)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d Royal Hospital for Children   (United Kingdom)

Author keywords

Congenital amegakaryocytic thrombocytopenia; Congenital aplastic anemia; Neonate; Pancytopenia; Thrombocytopenia

Indexed keywords

ALEMTUZUMAB; CIDOFOVIR; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; FLUDARABINE; GRANULOCYTE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; MPL PROTEIN; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PROTEIN; RIBAVIRIN; RITUXIMAB; TREOSULFAN; UNCLASSIFIED DRUG;

ACUTE LEUKEMIA; ADENOVIRUS INFECTION; APLASTIC ANEMIA; ARTICLE; BONE MARROW BIOPSY; BONE MARROW DEPRESSION; BONE MARROW TRANSPLANTATION; CASE REPORT; CD34 SELECTION; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ERYTHROCYTE TRANSFUSION; EXON; FACE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GLOMERULONEPHRITIS; GRAFT VERSUS HOST REACTION; HARD PALATE; HETEROZYGOSITY; HUMAN; HYPERTENSION; IMMUNOSUPPRESSIVE TREATMENT; INHERITANCE; INTRON; LYMPHOID CELL; MEGAKARYOCYTE; NEONATAL THROMBOCYTOPENIA; NEPHROTIC SYNDROME; NEUTROPENIA; NEUTROPHIL COUNT; NEWBORN; PANCYTOPENIA; PATIENT ASSESSMENT; PATIENT REFERRAL; PRIORITY JOURNAL; RNA SPLICING; SKIN BRUISING; SMALL FOR DATE INFANT; STOP CODON; THROMBOCYTE TRANSFUSION; TRUNK; VIRUS INFECTION;

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONGENITAL APLASTIC ANEMIA; NEONATE; PANCYTOPENIA; THROMBOCYTOPENIA;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; INTRONS; MUTATION; PANCYTOPENIA; RECEPTORS, THROMBOPOIETIN; RNA SPLICE SITES; THROMBOCYTOPENIA;

EID: 84880381372     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24566     Document Type: Article

References (12)

1. OMIM, Entry -# 604498-Amegakaryocytic Thrombocytopenia, Congenital; CAMT. Available at: http://omim.org/entry/604498.
2. Dokal I, Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev 2008; 22:141-153.
3. Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: Clinical presentation, diagnosis, and treatment. Semin Thromb Hemost 2011; 6:673-681.
4. Ihara K, Ishii E, Eguchi M, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci 1999; 96:3132-3136.
5. Ballmaier M, Germeshausen M. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol 2009; 146:3-16.
6. Kobayashi M, Laver J, Kato T, et al. Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3. Blood 1996; 88:429-436.
7. Kaushansky K. The molecular mechanisms that control thrombopoiesis. J Clin Invest 2005; 115:3339-3347.
8. Yoshihara H, Arai F, Hosokawa K, et al. Thrombopoietin/MPL signaling regulates hematopoietic stem cell quiescence and interaction with the osteoblastic niche. Cell Stem Cell 2007; 1:685-697.
9. King S, Germeshausen M, Strauss G, et al. Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients. Br J Haematol 2005; 131:636-644.
10. Vermylen C, Cornu G, DeWitte M, et al. Severe idiopathic congenital aplastic anemia: Role of hematopoietic growth factors. Bone Marrow Transplant 1993; 12:413-415.
11. Aladjidi N, Casanova J, Canioni D, et al. Severe aplastic anemia of neonatal onset: A single-center retrospective study of six children. J Pediatr 1998; 132:600-605.
12. Kuijpers TW, Nannenberg E, Alders M, et al. Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. Pediatrics 2004; 114:e387-e391.