title: Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
abstract: Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.
authors.affiliation: Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India.
authors.forename: R
authors.initials: R
authors.lastname: Rajyalakshmi
authors.forename: R N B
authors.initials: RN
authors.lastname: Chakrapani
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D017809:Fatal Outcome; D006197:Hair / Q000473:pathology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000473:pathology*; D008198:Lymph Nodes / Q000473:pathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008853:Microscopy; D016116:Piebaldism / Q000175:diagnosis* / Q000473:pathology*; D000081207:Primary Immunodeficiency Diseases