Innovative Journal Journal of Medical Research and Health Sciences 2589-9031 4 5 2021 5 20 Unusual Presentation of Griscelli Syndrome type II, Case Report. 1 Mai Alqasimi MD, Pediatrics Medicine Journal Article https://doi.org/10.15520/jmrhs.v4i5.344 Abstract Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. All three subtypes of this disease present by pigmentary dilution of the hair and skin with silvery-grey hair. Whereas this is the only feature in GS3 phenotype, GS1 patients also have primary neurological impairment and GS2 patients show severe immunological deficiencies leading to recurrent infections and hemophagocytic syndrome. We report here the case of GS2 in a10-year-old boy, with immunodeficiency and recurrent infections with hemophagositic lymphohistocytosis but without pigmentary changes. Carretero, González, , P, Julian, Noguera, , A, Campos, Ricart, , S, Guasch, Fortuny, , C, Sampol, Martorell, , L, Griscelli-Prunieras syndrome: report of two cases, An Pediatr (Barc), 2009, 70, 2 Griscelli, Claude, Durandy, Anne, Guy-Grand, Delphine, Daguillard, Fritz, Herzog, Claire, Prunieras, Michel, A syndrome associating partial albinism and immunodeficiency, The American Journal of Medicine, 1978, 65, 4, 691, 702, 0002-9343, 10.1016/0002-9343(78)90858-6, Elsevier BV, https://dx.doi.org/10.1016/0002-9343(78)90858-6 Kharkar, V, Pande, S, Mahajan, S, Dwivedi, D R, Khopkar, U, Griscelli syndrome: a new phenotype with circumscribed pigment loss, Dermatol Online J, 2007, 13, 2, 17, 17 Griscelli, Claude, Durandy, Anne, Guy-Grand, Delphine, Daguillard, Fritz, Herzog, Claire, Prunieras, Michel, A syndrome associating partial albinism and immunodeficiency, The American Journal of Medicine, 1978, 65, 4, 691, 702, 0002-9343, 10.1016/0002-9343(78)90858-6, Elsevier BV, https://dx.doi.org/10.1016/0002-9343(78)90858-6 Griscelli, Claude, Durandy, Anne, Guy-Grand, Delphine, Daguillard, Fritz, Herzog, Claire, Prunieras, Michel, A syndrome associating partial albinism and immunodeficiency, The American Journal of Medicine, 1978, 65, 4, 691, 702, 0002-9343, 10.1016/0002-9343(78)90858-6, Elsevier BV, https://dx.doi.org/10.1016/0002-9343(78)90858-6 Manglani, M, Adhvaryu, K, Seth, B, Griscelli syndrome: A case report, Indian Pediatr, 2004, 41, 734, 741 Sheela, D R, Latham, Jody, Sj, Griscelli syndrome: Rab27a mutation, Indian Pediatr, 2004, 41, 944, 951