Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistocytosis a Rare and Lethal Disorder

Abstract

A two and half years old male child was admitted with silvery grey hair, recurrent chest infection, ear discharge, hepatosplenomegaly, pancytopenia and hemophagocytosis in bone marrow. Light microscopy of hair shaft showed large unevenly distributed melanin pigment. Skin biopsy showed large coarse aggregates of melanin and the basal layer of epidermis showed reactivity with Masson's fontana stain. Griscelli syndrome type 2 was made as diagnosis which was confirmed by mutation study which showed nonsense mutation of Exon 6 of RAB 27A gene. The child was in accelerated phase and succumbed to death.

Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature

“…Findings in the literature can be categorized into nonspecific white matter changes, contrast enhancement and global volume loss [4] . High T2 signal lesions with enhancement have been described in the supra- and infratentorial brain with involvement of the basal ganglia, thalamus and corpus callosum [5 , 6] .…”