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.
References
Klein C, Phillipe N, Le Deist F, Fraitag S, Prost C, Durandy Aet al. Partial albinism with immunodeficiency.J Pediatr 1994; 125:886–95.
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.
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.
Haraldsson A, Weemaes CMR, Bakkeren JAJ, Happle R. Griscelli disease with cerebral involvement.Eur J Pediatr 1991; 150:419–422.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Rath, S., Jain, V., Marwaha, R.K. et al. Griscelli syndrome. Indian J Pediatr 71, 173–175 (2004). https://doi.org/10.1007/BF02723104
Issue Date:
DOI: https://doi.org/10.1007/BF02723104