title: Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.
abstract: Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genesMYO5A, RAB27A, MLPHare responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. We hereby report a 20 month old male child presenting with silvery gray hair, hypomelanosis and features of hemophagocytosis. The diagnosis of a type 2 GS was made in response to a set of clinical features: hypopigmentation of skin and the silvered reflection of the hair, absence of psychomotor retardation, the occurrence of an accelerated phase (hemophagocytosis) and, above all, a pathognomonic appearance by microscopic examination of a hair. The absence of giant granules in the nucleated cells made it possible to eliminate Chediak-Higashi syndrome, which shares a close clinical spectrum with GS. This case promotes awareness about this rare case of GS as a high indicator of suspicion about this potentially fatal condition and aids in prompt diagnosis and foresees complications. Early bone marrow transplant is the only curative treatment for GS-2.
authors.affiliation: Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Minocha
authors.affiliation: Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
authors.forename: Richa
authors.initials: R
authors.lastname: Choudhary
authors.affiliation: Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
authors.forename: Anika
authors.initials: A
authors.lastname: Agrawal
authors.affiliation: Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
authors.forename: Sadasivan
authors.initials: S
authors.lastname: Sitaraman
keywords: Griscelli syndrome; chediak-higashi syndrome; hemophagocytic lymphohistiocytosis; immunodeficiency; silvery grey hairs