Griscelli Syndrome with neurological deterioration: A case report.

Abstract

Griscelli syndrome (GS) is an autosomal recessive disorder with partial albinism, silver gray hair, hemophagocytic lymphohistiocytosis (HL).There are three types. Central nervous system involvement may be seen in GS2 without hemophagocytosis.

Hemiparesis Revealing a Unique Neurological Hemophagocytic Lymphohistiocytosis in a Patient With Griscelli Syndrome Type 2

“…The neurological manifestations of Griscelli syndrome are most common in GS1. However, in many reported cases, GS2 patients presented various neurological involvements such as raised intracranial pressure, seizures, ataxia, hemiparesis, and psychomotor retardation [2,[12][13][14], and since the RAB27A gene, the one responsible for GS2, is not expressed in neuronal cells, the neurological involvements reported among GS2 patients are attributed to histiocytic infiltration of the central nervous system, with the presence of most of the clinical and biological features of HLH [9]. Accordingly, cases of neurological involvements without hematologic manifestations of HLH are rarely described among GS2 patients.…”

“…The mutations in the myosin-Va ( MYO5A ) gene and the Ras-related protein Rab-27A ( RAB27A ) gene, both on chromosome 15q21, identify GS1 and GS2, respectively, while the gene encoding for melanophilin in chromosome 2q371 is responsible for GS type 3 (GS3) [ 5 ]. These mutations are associated with partial albinism, manifesting as hypopigmentation of the hair and the skin, with silvery-gray hair in all three subtypes of the disease [ 2 ]. Type 1 phenotype comes with a severe primary neurological involvement with a normal state of the immune system, and type 2 is marked by immune system deficiency and hemophagocytic lymphohistiocytosis (HLH), whereas type 3 phenotype is marked with an isolated manifestation of these symptoms [ 2 ].…”

“…These mutations are associated with partial albinism, manifesting as hypopigmentation of the hair and the skin, with silvery-gray hair in all three subtypes of the disease [ 2 ]. Type 1 phenotype comes with a severe primary neurological involvement with a normal state of the immune system, and type 2 is marked by immune system deficiency and hemophagocytic lymphohistiocytosis (HLH), whereas type 3 phenotype is marked with an isolated manifestation of these symptoms [ 2 ].…”

“…The differential diagnosis of this disease includes other genetic defects that share comparable clinical features, such as Chédiak-Higashi syndrome, Hermansky-Pudlak syndrome type 2, and Elejalde­ syndrome [ 2 ]. All these entities, alongside the three subtypes of GS, manifest with partial albinism [ 2 ].…”

“…Griscelli syndrome (GS) is a rare recessive autosomal disease that involves hypopigmentation of the hair and the skin, immunodeficiency with susceptibility to hemophagocytic lymphohistiocytosis (HLH), and neurological features [ 1 ]. While there are currently three subtypes described according to the genes involved in the genetic defect, only GS type 1 (GS1) is characterized by primary neurological impairments, and only GS type 2 (GS2) is described to involve immunological deficiency with associated HLH [ 2 ].…”