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Mediastinal lymphadenopathy

MedGen UID:
451062
Concept ID:
C0520743
Disease or Syndrome
Synonyms: Swollen lymph nodes in center of chest; Swollen lymph nodes in centre of chest
SNOMED CT: Mediastinal lymphadenopathy (52324001)
 
HPO: HP:0100721

Definition

Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMediastinal lymphadenopathy

Conditions with this feature

Familial pulmonary capillary hemangiomatosis
MedGen UID:
90956
Concept ID:
C0340848
Disease or Syndrome
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).
Sarcoidosis, susceptibility to, 2
MedGen UID:
436694
Concept ID:
C2676468
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MedGen UID:
477076
Concept ID:
C3275445
Disease or Syndrome
XMEN is an X-linked recessive immunodeficiency characterized by CD4 (186940) lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation (Li et al., 2011). Affected individuals have chronic Epstein-Barr virus (EBV) infection and are susceptible to the development of EBV-associated B-cell lymphoproliferative disorders. Magnesium supplementation may be therapeutic (summary by Li et al., 2014).
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
MedGen UID:
766531
Concept ID:
C3553617
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
MedGen UID:
816258
Concept ID:
C3809928
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Immunodeficiency 64
MedGen UID:
1684716
Concept ID:
C5231402
Disease or Syndrome
Immunodeficiency-64 with lymphoproliferation (IMD64) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show variably decreased numbers of T cells, with lesser deficiencies of B and NK cells. There is impaired T-cell proliferation and activation; functional defects in B cells and NK cells may also be observed. Patients have increased susceptibility to EBV infection and may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity (summary by Salzer et al., 2016, Mao et al., 2018, and Winter et al., 2018).
Immunodeficiency 97 with autoinflammation
MedGen UID:
1802936
Concept ID:
C5676946
Disease or Syndrome
Immunodeficiency-97 with autoinflammation (IMD97) is an autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH; see FHL1, 267700). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported (summary by Takeda et al., 2019 and Thian et al., 2020).
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
MedGen UID:
1824079
Concept ID:
C5774306
Disease or Syndrome
Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis (CF; 219700), these patients have normal sweat chloride and pancreatic elastase tests (Bertoli-Avella et al., 2022).

Professional guidelines

PubMed

Birda CL, Kumar A, Gupta P, Singh H, Sharma V
Dysphagia 2022 Aug;37(4):973-987. Epub 2021 Sep 4 doi: 10.1007/s00455-021-10360-x. PMID: 34482490
Song Y, Dai L, Xu G, Wang T, Yu W, Chen K, Zhang B
BMC Surg 2021 Aug 18;21(1):329. doi: 10.1186/s12893-021-01326-9. PMID: 34407789Free PMC Article
Dooms C, Muylle I, Yserbyt J, Ninane V
Eur Respir Rev 2013 Jun 1;22(128):169-77. doi: 10.1183/09059180.00001113. PMID: 23728872Free PMC Article

Recent clinical studies

Etiology

Casal Moura M, Baqir M, Tandon YK, Samec MJ, Hines AS, Reichard KK, Mangaonkar AA, Go RS, Warrington KJ, Patnaik MM, Koster MJ, Ryu JH
Respir Med 2023 Jul;213:107245. Epub 2023 Apr 14 doi: 10.1016/j.rmed.2023.107245. PMID: 37062498
Nguyen HN, Salman R, Vogel TP, Silva-Carmona M, DeGuzman M, Guillerman RP
Pediatr Radiol 2023 May;53(5):844-853. Epub 2023 Feb 7 doi: 10.1007/s00247-023-05600-1. PMID: 36746811
Staszak JK, Zmijewski P, Arnold S, Bagga B, Williams RF
J Surg Res 2019 Dec;244:558-565. Epub 2019 Jul 25 doi: 10.1016/j.jss.2019.06.062. PMID: 31352234
Israel-Biet D, Valeyre D
Curr Opin Pulm Med 2013 Sep;19(5):510-5. doi: 10.1097/MCP.0b013e3283645950. PMID: 23880701
Stigt JA, Boers JE, Oostdijk AH, van den Berg JW, Groen HJ
J Thorac Oncol 2011 Aug;6(8):1345-9. doi: 10.1097/JTO.0b013e31821d41c8. PMID: 21587083

Diagnosis

Riehani A, Soubani AO
Respir Med 2023 Nov;218:107407. Epub 2023 Sep 9 doi: 10.1016/j.rmed.2023.107407. PMID: 37696313
Fantin A, Castaldo N, Tirone C, Sartori G, Crisafulli E, Patrucco F, Vetrugno L, Patruno V
Acta Biomed 2023 Aug 3;94(4):e2023113. doi: 10.23750/abm.v94i4.14090. PMID: 37539612Free PMC Article
Iyer H, Anand A, Sryma PB, Gupta K, Naranje P, Damle N, Mittal S, Madan NK, Mohan A, Hadda V, Tiwari P, Guleria R, Madan K
Expert Rev Respir Med 2021 Oct;15(10):1317-1334. Epub 2021 May 6 doi: 10.1080/17476348.2021.1920404. PMID: 33888038
Tan WJ, Suz CS, Azza O, Zuki M
Med J Malaysia 2021 Mar;76(2):241-244. PMID: 33742636
Stigt JA, Boers JE, Oostdijk AH, van den Berg JW, Groen HJ
J Thorac Oncol 2011 Aug;6(8):1345-9. doi: 10.1097/JTO.0b013e31821d41c8. PMID: 21587083

Therapy

Casal Moura M, Baqir M, Tandon YK, Samec MJ, Hines AS, Reichard KK, Mangaonkar AA, Go RS, Warrington KJ, Patnaik MM, Koster MJ, Ryu JH
Respir Med 2023 Jul;213:107245. Epub 2023 Apr 14 doi: 10.1016/j.rmed.2023.107245. PMID: 37062498
Mittal HG, Kaur P, Rangarajan S, Srivastava K, Patra B
Indian J Pediatr 2022 Nov;89(11):1107-1109. Epub 2022 Feb 28 doi: 10.1007/s12098-022-04116-0. PMID: 35226286
Yamada K, Asai K, Yanagimoto M, Sone R, Inazu S, Mizutani R, Kadotani H, Watanabe T, Tochino Y, Kawaguchi T
Intern Med 2022 Sep 1;61(17):2681-2685. Epub 2022 Feb 8 doi: 10.2169/internalmedicine.7830-21. PMID: 35135910Free PMC Article
Staszak JK, Zmijewski P, Arnold S, Bagga B, Williams RF
J Surg Res 2019 Dec;244:558-565. Epub 2019 Jul 25 doi: 10.1016/j.jss.2019.06.062. PMID: 31352234
Sowida M
BMJ Case Rep 2019 Jul 8;12(7) doi: 10.1136/bcr-2018-228693. PMID: 31289155Free PMC Article

Prognosis

Riehani A, Soubani AO
Respir Med 2023 Nov;218:107407. Epub 2023 Sep 9 doi: 10.1016/j.rmed.2023.107407. PMID: 37696313
Kaur N, Kumthekar A, Ayesha B
BMJ Case Rep 2021 Jul 14;14(7) doi: 10.1136/bcr-2021-243557. PMID: 34261632Free PMC Article
Staszak JK, Zmijewski P, Arnold S, Bagga B, Williams RF
J Surg Res 2019 Dec;244:558-565. Epub 2019 Jul 25 doi: 10.1016/j.jss.2019.06.062. PMID: 31352234
Stigt JA, Boers JE, Oostdijk AH, van den Berg JW, Groen HJ
J Thorac Oncol 2011 Aug;6(8):1345-9. doi: 10.1097/JTO.0b013e31821d41c8. PMID: 21587083
Herth FJF
Front Radiat Ther Oncol 2010;42:55-62. Epub 2009 Nov 24 doi: 10.1159/000262460. PMID: 19955791

Clinical prediction guides

Caputo A, Caleo A, Cozzolino I, Zeppa P, Ciancia G, Ciliberti V
Cytopathology 2023 Sep;34(5):423-432. Epub 2023 Mar 10 doi: 10.1111/cyt.13221. PMID: 36807950
Okabe Y, Aoki T, Terasawa T, Kinoshita S, Nakayamada S, Tanaka Y, Korogi Y
Clin Imaging 2019 May-Jun;55:140-143. Epub 2019 Feb 20 doi: 10.1016/j.clinimag.2019.02.014. PMID: 30818164
Stigt JA, Boers JE, Oostdijk AH, van den Berg JW, Groen HJ
J Thorac Oncol 2011 Aug;6(8):1345-9. doi: 10.1097/JTO.0b013e31821d41c8. PMID: 21587083
Kanda T, Takahashi T
Jpn Heart J 2004 Mar;45(2):183-93. doi: 10.1536/jhj.45.183. PMID: 15090695
Ooi GC, Daqing M
Respirology 2003 Nov;8 Suppl(Suppl 1):S15-9. doi: 10.1046/j.1440-1843.2003.00519.x. PMID: 15018128Free PMC Article

Recent systematic reviews

Birda CL, Kumar A, Gupta P, Singh H, Sharma V
Dysphagia 2022 Aug;37(4):973-987. Epub 2021 Sep 4 doi: 10.1007/s00455-021-10360-x. PMID: 34482490
Madan K, Iyer H, Madan NK, Mittal S, Tiwari P, Hadda V, Mohan A, Pandey RM, Kabra SK, Guleria R
Pediatr Pulmonol 2021 Jan;56(1):23-33. Epub 2020 Oct 29 doi: 10.1002/ppul.25124. PMID: 33073498
Dhooria S, Aggarwal AN, Gupta D, Behera D, Agarwal R
Respir Care 2015 Jul;60(7):1040-50. Epub 2015 Mar 10 doi: 10.4187/respcare.03779. PMID: 25759463
Chandra S, Nehra M, Agarwal D, Mohan A
Respir Care 2012 Mar;57(3):384-91. Epub 2011 Oct 12 doi: 10.4187/respcare.01274. PMID: 22004665
Puli SR, Batapati Krishna Reddy J, Bechtold ML, Ibdah JA, Antillon D, Singh S, Olyaee M, Antillon MR
World J Gastroenterol 2008 May 21;14(19):3028-37. doi: 10.3748/wjg.14.3028. PMID: 18494054Free PMC Article

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