A Griscelli Syndrome, with Retropharyngeal Abscess, as First Clinical

Document Type : Case Report


1 Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran

2 Department of Pathology, North Khorasan University of Medical Sciences, Bojnurd, Iran



Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. In different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we report a one-year-old male child with an upper respiratory infection and retropharyngeal abscess as first clinical manifestation.


1. 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(4):691-702. 2. Gupta M, Sharma RK, Kumari S, Thakur S. Griscelli syndrome 3: a rare and mild variant. Pigment Int. 2019;6(2):102. 3. Töret E, Ay Y, Aksoylar S, Karapınar TH, Oymak Y. Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome. Int J Pediatr Res. 2019;6(3):252-6. 4. Al-Mofareh M, Ayas M, Al-Seraihy A, Siddiqui K, Al-Jefri A, Ghemlas I, et al. Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients. Bone Marrow Transplant. 2020:1-9. 5. Russ A, Mack J, Green-Murphy A, Occidental M, Mian A. Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. J Pediatr Hematol Oncol. 2019;41(6):473-7. 6. Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M ,Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol. 2011;24(6):471-3. 7. Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol. 2012;34(7):541-4. 8. Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, Ashraf Zadeh F, Akhondian J, Beiraghi Toosi M, et al. Griscelli syndrome: a case report. Iran J Child Neurol. 2014;8(4):72-5. 9. Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi C. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology. 2011;3(2):107-11. 10. Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J. 2007;13(2):17. 11. Sheela SR, Latha M, Injody SJ. Griscellisyndrome: Rab 27a mutation. Indian Pediatr. 2004;41(9):944-7. 12. Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology. 2012;4(2):83-5. 13. Khairoun M, Meynen F, Vercoutere W, Leavis HL. Case series of three adult patients with exceptional clinical presentations of haemophagocytic lymphohistiocytosis. Neth J Med. 2020;78(3):136-41. 14. Mahalingashetti PB, Krishnappa MH, Kalyan PS, Subramanian RA, Padhy S. Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. J Lab Physicians. 2012;4(2):129-30. 15. Schuster F, Stachel D, Schmid I, Baumeister F, Graubner U, Weiss M, et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone marrow transplant. 2001;28(4):409-12.