A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: Report of identical twins with Griscelli disease

Annals of Tropical Paediatrics

Volumn 23, Issue 1, 2003, Pages 69-73

  Sarper, N ^a   Ipek, Ilke Ozahi ^a   Ceran, O ^a   Karaman, S ^a   Bozaykut, A ^a   Inan, S ^a  

^a Zeynep Kamil Maternity Hospital   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOSPORIN A; DEXAMETHASONE; ETOPOSIDE; IMMUNOSUPPRESSIVE AGENT; METHOTREXATE; STEROID; THYMOCYTE ANTIBODY;

DISEASE;

ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; ASPIRATION PNEUMONIA; BASE PAIRING; BONE MARROW EXAMINATION; CANCER REGRESSION; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DRUG PULSE THERAPY; ERYTHROPHAGOCYTOSIS; EXON; FAILURE TO THRIVE; FEVER; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GRISCELLI SYNDROME; HAIR DISEASE; HEPATOSPLENOMEGALY; HUMAN; MAINTENANCE THERAPY; MALE; MELANOCYTE; MELANOSOME; MONOZYGOTIC TWINS; MOUTH ULCER; PANCYTOPENIA; PARENT; PRENATAL DIAGNOSIS; RELAPSE; RELATIVE; SIBLING; SKIN BIOPSY;

CONSANGUINITY; DISEASES IN TWINS; FATAL OUTCOME; HAIR; HEPATOMEGALY; HUMANS; HYPOPIGMENTATION; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; PANCYTOPENIA; SPLENOMEGALY; SYNDROME; TWINS, MONOZYGOTIC;

EID: 0037342903     PISSN: 02724936     EISSN: None     Source Type: Journal    
DOI: 10.1179/000349803125002896     Document Type: Article

References (24)

1. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Pruniers M. A syndrome associating partial albinism and immunodeficiency. Am J Med 1978; 65:691-702.
2. Klein C, Philippe N, Le Deist F, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994; 125:886-95.
3. Yalman N, Sarper N, Ünal E, et al. Griscelli disease presenting with haemophagocytosis and cerebral involvement. Turk J Immunol 1998; 3:87-91.
4. Sanal Ö, Küçükali T, Ersoy F, Tinaztepe K, Göǧüş S. Griscelli syndrome: clinical features of three siblings. Turk J Pediatr 1993; 35:115-19.
5. Schneider LC, Berman RS, Shera CR, Perez-Atayde AR, Weinstein H, Geha RS. Bone marrow transplantation for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli disease). J Clin Immunol 1990; 10:146-53.
6. Schuster F, Stachel DK, Schmid I, et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indicator for BMT. Bone Marrow Transplant 2001; 28:409-12.
7. Arico M, Janka G, Fischer A, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. Leukemia 1996; 10: 197-203.
8. Haraldsson A, Weemaes C, Bakkaeren J, Happle R. Griscelli disease with cerebral involvement. Eur J Pediatr 1991; 150:419-22.
9. Hurvitz H, Gillis R, Klaus S, Gross-Kieselstein F, Okon E. A kindred with Griscelli disease: spectrum of neurological involvement. Eur J Pediatr 1993; 152:402-5.
10. Brismar J, Harfi HA. Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes. Am J Neuroradiol 1992; 13:387-93.
11. Sarper N, Akansel G, Aydoǧan M, et al. Neuroimaging abnormalities in Griscelli disease: a case report. Pediatr Radiol 2002; DOI: 10.007/S00242-002-0572.
12. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene. Nat Genet 1997; 16:289-92.
13. Menasche G, Pastural E, Feldman J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000; 25:173-6.
14. Chen D, Guo J, Miki T, Tachibana M, Gahl W. Molecular cloning and characterization of Rab27a and Rab27b, novel human proteins shared by melanocytes and platelets. Biochem Mol Med 1997; 60:27-37.
15. Göǧüs S, Topçu M, Küçükali T, et al. Griscelli syndrome: report of three cases. Pediatr Pathol Lab Med 1995; 15:309-19.
16. Çetin M, Hiçsönmez G, Göǧüs S. Myelodysplasic syndrome associated with Griscelli syndrome. Leuk Res 1998; 22:859-62.
17. Sanal O, Ersoy F, Tezcan I, et al. Griscelli disease: genotype-phenotype correlation in an array of clinical heterogenity. J Clin Immunol 2002; 22: 237-43.
18. Kumar M, Sackey K, Schmalstieg F, Trizna Z, Elghetany MT, Alter BP. Griscelli syndrome: a rare neonatal syndrome of recurrent hemophagocytosis. J Pediatr Hematol Oncol 2001; 23:464-8.
19. Ericson KG, Fadeel B, Nilsson-Ardnor SN, et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 2001; 68:590-7.
20. Wagner M, Muller-Berghaus J, Schroeder R, et al. Human herpes virus-6 (HHV-6)-associated necrotizing encephalitis in Griscelli's syndrome. J Med Virol 1997; 53:306-12.
21. Stephan JL, Donadieu J, Ledeist F, Blanche S, Griscelli C, Fischer A. Treatment of hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids and cyclosporin A. Blood 1993; 82:2319-23.
22. Tezcan I, Sanal O, Ersoy F, et al. Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement. Bone Marrow Transplant 1999; 24:931-3.
23. Arico M, Zecca M, Santora N, et al. Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant 2002; 29:995-8.
24. Shuper A, Attias D, Kornreich L, Zaizov R, Yaniv I. Familial hemophagocytic lymphohistiocytosis: improved neurodevelopmental outcome after bone marrow transplantation. J Pediatr 1998; 133:126-8.