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The Indian Journal of Pediatrics

, Volume 71, Issue 2, pp 173–175 | Cite as

Griscelli syndrome

  • Sanjeev Rath
  • Vivek Jain
  • R. K. Marwaha
  • Amita Trehan
  • L. S. Rajesh
  • Vijay Kumar
Clinical Brief

Abstract

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

Key words

Partial albinism Pigmentary dilution Hemophagocytosis Immuno-deficiency 

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References

  1. 1.
    Klein C, Phillipe N, Le Deist F, Fraitag S, Prost C, Durandy Aet al. Partial albinism with immunodeficiency.J Pediatr 1994; 125:886–95.PubMedCrossRefGoogle Scholar
  2. 2.
    Griscelli C, Durandy A, Guy Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency.Am J Med 1978; 65: 691–702.PubMedCrossRefGoogle Scholar
  3. 3.
    Schneider LC, Berman RS, She CR, Perez AR, Weinstein H. Bone marrow transplantation for the syndrome of pigmentary dilution and lmphohistiocytosis.J. Clin Immunol 1990; 10:146–153.PubMedCrossRefGoogle Scholar
  4. 4.
    Haraldsson A, Weemaes CMR, Bakkeren JAJ, Happle R. Griscelli disease with cerebral involvement.Eur J Pediatr 1991; 150:419–422.PubMedCrossRefGoogle Scholar
  5. 5.
    Gogus S, Topcu M, Kucukali T Akcoren Z, Berkel I Ersoy F, Gunay M, Saatci I. Griscelli syndrome: Report of threee cases.Pediat Path Lab Med 1995; 15 : 309.Google Scholar
  6. 6.
    Hurvitz H, Gillis R, Klaus R, Klar A, Gross-Kieselstein F, Okon E. Kindred with Griscelli disease: spectrum of neurological involvement.Eur J Pediatr 1993; 152 : 402–5.PubMedCrossRefGoogle Scholar
  7. 7.
    Mancini AJ, Chan LS, Palier AS. Partial albinism with immunodeficiency: Griscelli syndrome : Report of case and review of the literature.J Am Acad Dermatol 1998; 38 : 295–300.PubMedCrossRefGoogle Scholar
  8. 8.
    Mathew LG, Cherian T, Sudarshanam A, Korah I, Shyam Kumar NK, Raghupathy P. Hemophagocytic lympho-histiocytosis: A case series.Indian Pediatr 2000; 37: 526–531.PubMedGoogle Scholar
  9. 9.
    Kanitakis J, Cambazard F, Roca-Miralles M, Souillet G, Philippe N, Griscelli C. Gricelli disease: report of a new case with light and electron microscopic study of the skin.Eur J Dermatol 1991; 1: 206–213.Google Scholar
  10. 10.
    Siccardi AG, Bianchi E, Calligari A, Clivio A, Fortunato A, Magrini Uet al. A new familial defect in neutrophil bactericidal activity.Helv Pediatr Ada 1978; 33:401–412.Google Scholar
  11. 11.
    Fischer A, Virelizier JL, Arenzana SF, Perez N, Nezelof C, Griscelli C. Treatment of four patients wth erythrophago-cytosis by a combination of epipodophyllotoxin, steroids, intracranial methotrexate and cranial irradiation.Pediatrics 1985; 76:263–268.PubMedGoogle Scholar
  12. 12.
    Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C. Prenatal diagnosis of syndrome associating albinism and immunodefiencies (Chediak Hegashi syndrome and variant).Prenat Diag 1993; 13:13–20.CrossRefGoogle Scholar
  13. 13.
    Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis Set al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 2000; 25:173–176.PubMedCrossRefGoogle Scholar
  14. 14.
    Pastural E, Barrat FJ, Dufoureq-Lagelouse R, Certain S, Sanal O, Jabodo Net al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.Nature Genet 1997; 16: 289–292.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2004

Authors and Affiliations

  • Sanjeev Rath
    • 2
  • Vivek Jain
    • 2
  • R. K. Marwaha
    • 2
  • Amita Trehan
    • 2
  • L. S. Rajesh
    • 1
  • Vijay Kumar
    • 2
  1. 1.department of PathologyPostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.I/CDivision of Pediatric Hematology and Oncology, Advanced Pediatric CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

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