Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2

Viral Immunol. 2011 Dec;24(6):471-3. doi: 10.1089/vim.2011.0034. Epub 2011 Nov 23.

Abstract

Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH). The authors report the diagnosis of GS2 in an 11-year-old girl with hypopigmentation, immunodeficiency, hepatosplenomegaly, severe neurological impairments, and fatal multiorgan failure. In this patient a diagnosis of pulmonary lymphomatoid granulomatosis (LG), an Epstein-Barr virus (EBV)-related lymphoproliferative disorder, was established from radiological and histological findings. Although EBV-related malignancies are common in immunocompromised patients, this is the first report of a diagnosis of pulmonary LG in a patient with GS2.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Epstein-Barr Virus Infections / complications
  • Epstein-Barr Virus Infections / virology
  • Fatal Outcome
  • Female
  • Herpesvirus 4, Human / pathogenicity
  • Humans
  • Hypopigmentation / genetics
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / virology*
  • Lymphohistiocytosis, Hemophagocytic
  • Lymphomatoid Granulomatosis / complications
  • Lymphomatoid Granulomatosis / genetics
  • Lymphoproliferative Disorders / genetics
  • Phenotype
  • Piebaldism / complications
  • Piebaldism / diagnosis*
  • Piebaldism / genetics
  • Piebaldism / virology*
  • Primary Immunodeficiency Diseases

Supplementary concepts

  • Griscelli syndrome type 2