Griscelli syndrome: description of a case with Rab27A mutation

Pediatr Hematol Oncol. 2006 Apr-May;23(3):255-61. doi: 10.1080/08880010500506909.

Abstract

A 7-month-old Turkish boy presented with partial albinism and typical clinical features of an accelerated phase, suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair and a peripheral blood smear. Genetic analysis identified a mutation in the Rab27A gene. He was initiated immunosuppressive treatment but accelerated phase could not be ameliorated. He unfortunately died from multiorgan failure. The finding of partial albinism in children should alert clinicians to consider Griscelli syndrome since simple methods can confirm the diagnosis and early diagnosis is life-saving.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Combined Modality Therapy
  • Consanguinity
  • Fatal Outcome
  • Genes, Recessive
  • Hair / chemistry
  • Hair / ultrastructure
  • Hepatomegaly / etiology
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / blood
  • Lymphohistiocytosis, Hemophagocytic / diagnosis
  • Lymphohistiocytosis, Hemophagocytic / drug therapy
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Lymphohistiocytosis, Hemophagocytic / therapy
  • Male
  • Melanins / analysis
  • Multiple Organ Failure / etiology
  • Piebaldism / genetics*
  • Splenomegaly / etiology
  • Syndrome
  • rab GTP-Binding Proteins / deficiency
  • rab GTP-Binding Proteins / genetics*
  • rab GTP-Binding Proteins / physiology
  • rab27 GTP-Binding Proteins

Substances

  • Immunosuppressive Agents
  • Melanins
  • rab27 GTP-Binding Proteins
  • RAB27A protein, human
  • rab GTP-Binding Proteins