Griscelli syndrome - a case report

Indian Pediatr. 2004 Jul;41(7):734-7.

Abstract

Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft.

Publication types

  • Case Reports

MeSH terms

  • Common Variable Immunodeficiency* / diagnosis
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Piebaldism / immunology*
  • Syndrome