CAMT in a female with developmental delay, facial malformations and central nervous system anomalies

Pediatric Blood and Cancer

Volumn 56, Issue 3, 2011, Pages 452-453

  Martinón Torres, Nazareth ^a   Vázquez Donsión, Manuel ^a   Loidi, Lourdes ^b   Couselo, Jose Miguel ^a  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b Fundacion Publica Galega de Medicina Xenomica   (Spain)

Author keywords

Bone marrow failure; Ethics; Stem cell transplantation; Thrombocytopenia

Indexed keywords

IMMUNOGLOBULIN; PREDNISONE;

ARTICLE; BONE MARROW BIOPSY; BRAIN MALFORMATION; BRAIN STEM; C MPL GENE; CASE REPORT; CAUSE OF DEATH; CEREBELLUM AGENESIS; CLINODACTYLY; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONVERGENT STRABISMUS; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; ERYTHROCYTE COUNT; FACE MALFORMATION; FEMALE; GENE MUTATION; HUMAN; INFANT; LONG PHILTRUM; MEGAKARYOCYTE; MUTATOR GENE; NEUTROPHIL COUNT; PANCYTOPENIA; PRIORITY JOURNAL; RETROGNATHIA; SEPSIS; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

CENTRAL NERVOUS SYSTEM; DEVELOPMENTAL DISABILITIES; FACE; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; RECEPTORS, THROMBOPOIETIN; THROMBOCYTOPENIA;

EID: 78651068543     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22904     Document Type: Article

References (16)

1. Ballmaier M, Germeshausen M, Schulze H, et al. C-mpl mutations are de cause of congenital amegakaryocytic thrombocytopenia. Blood 2001; 97: 139-146.
2. van den Oudenrijn S, Bruin M, Folman CC, et al. Mutations in the thrombopoietin receptor, mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2000; 110: 441-448.
3. Germeshausen M, Schulze H, Gaudig A, et al. Congential amegakaryocytic thrombocytopenia (CAMT)-a defect of the thrombopoietin receptor c-mpl. Klin Padiatr 2001; 213: 155-161.
4. Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970; 59: 185-191.
5. Ihara K, Ishii E, Eguchi M, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic trombocitopenia. Proc Natl Acad Sci USA 1999; 96: 3132-3136.
6. 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.
7. Steinberg O, Gilad G, Dgany O, et al. Congenital amegakaryocytic thrombocytopenia-3 novel c-mpl mutations and their phenotypic correlations. J Pediatr Hematol Oncol 2007; 29: 822-825.
8. Germeshausen M, Ballmaier M, Welte K. Mpl mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: The type of mutation predicts the course of the disease. Hum Mutat 2006; 27: 296.
9. Fox NE, Chen R, Hitchcock I, et al. Compound heterozygous c-mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature. Exp Hematol 2009; 37: 495-503.
10. Ehrenreich H, Hasselblatt M, Knerlich F, et al. A hematopoietic growth factor, thrombopoietin, has a proapoptotic role in the brain. Proc Natl Acad Sci USA 2005; 102: 862-867.
11. MacDonald MR, Schaefer GB, Olney AH, et al. Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. Am J Med Genet 1994; 50: 46-50.
12. Skórka A, Bielicka-Cymermann J, Gieruszczak-Bialek D, et al. Thrombocytopenia-absent radius (tar) syndrome: A case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns 2005; 16: 377-382.
13. Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Look AT, Ginsburg D, editors. Nathan and Oski's hematology of infancy and childhood. Philadelphia: WB Saunders; 2003. pp. 281-365.
14. Khabbaze Y, Karayalcin G, Paley C, et al. Thrombocytopenia absent corpus callosum syndrome: Third case of a distinct clinical entity. J Pediatr Hematol Oncol 2001; 23: 469-471.
15. Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenital: Their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107: 2680-2685.
16. Lackner A, Basu O, Bierings M, et al. Haematopoietic stem cell transplantation for amegakaryocytic trombocitopenia. Br J Haematol 2000; 109: 773-775.