title: Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.
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.
authors: Department of Pediatric Pneumonology, Allergology, and Clinical Immunology, 3rd Chair of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland. ola@malwa.com.pl
authors: Aleksandra
authors: A
authors: Szczawinska-Poplonyk
authors: Zdzislawa
authors: Z
authors: Kycler
authors: Anna
authors: A
authors: Breborowicz
authors: Maja
authors: M
authors: Klaudel-Dreszler
authors: Malgorzata
authors: M
authors: Pac
authors: Maria
authors: M
authors: Zegadlo-Mylik
authors: Renata
authors: R
authors: Langfort
mesh_terms: D002648:Child; D020031:Epstein-Barr Virus Infections / Q000150:complications / Q000821:virology; D017809:Fatal Outcome; D005260:Female; D004854:Herpesvirus 4, Human / Q000472:pathogenicity; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000821:virology*; D051359:Lymphohistiocytosis, Hemophagocytic; D008230:Lymphomatoid Granulomatosis / Q000150:complications / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000235:genetics; D010641:Phenotype; D016116:Piebaldism / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000821:virology*; D000081207:Primary Immunodeficiency Diseases