title: Epstein-Barr virus-associated leiomyomatosis and posttransplant lymphoproliferative disorder in a child with severe combined immunodeficiency: case report and review of the literature.
abstract: The occurrence of smooth muscle neoplasms and lymphoproliferative disorders in immunocompromised patients is well recognized. We report the case of an 8-year-old girl with adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) status post-bone marrow transplant (BMT), in whom Epstein-Barr virus (EBV) was detected in innumerable leiomyomas involving the gallbladder (leiomyomatosis), and multifocal leiomyomas in liver, spleen, pancreas, intestinal tract, and lung. The leiomyomas of the gallbladder, liver, spleen, and lung were asymptomatic, while those located in the colon became clinically manifest by recurrent lower intestinal hemorrhage. The patient also developed extensive EBV-associated polymorphic lymphoproliferative disorder (PTLD) in nodal and extranodal sites. In addition, there were pulmonary and gastric adenovirus and small and large intestine cryptosporidum infections. Our case appears to be the first example of leiomyomatosis of the gallbladder coexisting with multifocal leiomyomas of the liver, spleen, pancreas, intestinal tract, and lung, as well as EBV-derived lymphoproliferative disorder in a young girl with ADA-deficient SCID. Awareness of the pattern of involvement and of the coexistence of benign leiomyomatous proliferations with lymphoproliferative disorder is of value when gallbladder, pancreatic, biliary tree, lung, and intestinal lesions become clinically manifest in these patients. The demonstration of EBV infection in both leiomyomata and the PTLD suggests a common pathogenesis that may have therapeutic and prognostic implications.
authors.affiliation: Department of Pathology-CHLA Box 43, Division of Anatomic Pathology, Childrens Hospital Los Angeles, University of Southern California, Keck School of Medicine, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA. hmonforte@chla.usc.edu
authors.forename: Hector
authors.initials: H
authors.lastname: Monforte-Muñoz
authors.forename: Neena
authors.initials: N
authors.lastname: Kapoor
authors.forename: Jorge Albores
authors.initials: JA
authors.lastname: Saavedra
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000378:metabolism; D016026:Bone Marrow Transplantation; D002648:Child; D020031:Epstein-Barr Virus Infections / Q000150:complications / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005706:Gallbladder Neoplasms / Q000209:etiology / Q000473:pathology; D004854:Herpesvirus 4, Human / Q000302:isolation & purification* / Q000472:pathogenicity; D006801:Humans; D016867:Immunocompromised Host; D007889:Leiomyoma / Q000209:etiology / Q000473:pathology; D018231:Leiomyomatosis / Q000209:etiology / Q000473:pathology*; D008232:Lymphoproliferative Disorders / Q000209:etiology / Q000473:pathology*; D011183:Postoperative Complications; D016511:Severe Combined Immunodeficiency / Q000201:enzymology / Q000473:pathology / Q000821:virology
chemical_list: D000243:Adenosine Deaminase