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Congenital chylothorax

MedGen UID:
87398
Concept ID:
C0340014
Congenital Abnormality
Synonym: HYDROTHORAX, CONGENITAL
SNOMED CT: Congenital chylothorax (233646003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0011331
OMIM®: 603523
Orphanet: ORPHA264688

Definition

Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital chylothorax
Follow this link to review classifications for Congenital chylothorax in Orphanet.

Professional guidelines

PubMed

Höck M, Höller A, Hammerl M, Wechselberger K, Krösslhuber J, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Karall D
Ital J Pediatr 2021 Aug 26;47(1):175. doi: 10.1186/s13052-021-01125-1. PMID: 34446079Free PMC Article
Alhasoon MA
J Neonatal Perinatal Med 2021;14(4):457-461. doi: 10.3233/NPM-200644. PMID: 33843702
Bellini C, Cabano R, Bellini T, Boccardo F, Morcaldi G, Ramenghi LA
Lymphology 2016 Sep;49(3):150-6. PMID: 29906078

Recent clinical studies

Etiology

Toptan HH, Ozalkaya E, Karadag N, Topcuoglu S, Dincer E, Karatekin G
Indian J Pediatr 2024 Mar;91(3):248-253. Epub 2023 Apr 11 doi: 10.1007/s12098-023-04531-x. PMID: 37040015
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Attar MA, Donn SM
Semin Fetal Neonatal Med 2017 Aug;22(4):234-239. Epub 2017 Mar 27 doi: 10.1016/j.siny.2017.03.005. PMID: 28351595
Downie L, Sasi A, Malhotra A
J Paediatr Child Health 2014 Mar;50(3):234-8. Epub 2013 Dec 23 doi: 10.1111/jpc.12477. PMID: 24372911
Al-Tawil K, Ahmed G, Al-Hathal M, Al-Jarallah Y, Campbell N
Am J Perinatol 2000;17(3):121-6. doi: 10.1055/s-2000-9281. PMID: 11012135

Diagnosis

Attar MA, Donn SM
Semin Fetal Neonatal Med 2017 Aug;22(4):234-239. Epub 2017 Mar 27 doi: 10.1016/j.siny.2017.03.005. PMID: 28351595
Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B
Paediatr Respir Rev 2014 Sep;15(3):275-80. Epub 2014 May 29 doi: 10.1016/j.prrv.2014.05.002. PMID: 24997116
Lahmiti S, Elhoudzi J, Aboussad A
ScientificWorldJournal 2009 Jun 12;9:431-4. doi: 10.1100/tsw.2009.62. PMID: 19526181Free PMC Article
Ozkan H, Ay N, Ozaksoy D, Ercal D, Erata Y, Durak H, Evyapan O, Toprak S
Turk J Pediatr 1996 Jan-Mar;38(1):113-7. PMID: 8819631
van Straaten HL, Gerards LJ, Krediet TG
Eur J Pediatr 1993 Jan;152(1):2-5. doi: 10.1007/BF02072505. PMID: 8444200

Therapy

Handal-Orefice R, Midura D, Wu JK, Parravicini E, Miller RS, Shawber CJ
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-058555. PMID: 36651059
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Alhasoon MA
J Neonatal Perinatal Med 2021;14(4):457-461. doi: 10.3233/NPM-200644. PMID: 33843702
Bellini C, Cabano R, Bellini T, Boccardo F, Morcaldi G, Ramenghi LA
Lymphology 2016 Sep;49(3):150-6. PMID: 29906078
Malleske DT, Yoder BA
J Perinatol 2015 May;35(5):384-6. doi: 10.1038/jp.2015.10. PMID: 25917021

Prognosis

Handal-Orefice R, Midura D, Wu JK, Parravicini E, Miller RS, Shawber CJ
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-058555. PMID: 36651059
De Angelis LC, Bellini T, Witte MH, Kylat RI, Bernas M, Boccardo F, Paladini D, Magnano GM, Ramenghi LA, Bellini C
Lymphology 2019;52(3):108-125. PMID: 31874123
Attar MA, Donn SM
Semin Fetal Neonatal Med 2017 Aug;22(4):234-239. Epub 2017 Mar 27 doi: 10.1016/j.siny.2017.03.005. PMID: 28351595
Lahmiti S, Elhoudzi J, Aboussad A
ScientificWorldJournal 2009 Jun 12;9:431-4. doi: 10.1100/tsw.2009.62. PMID: 19526181Free PMC Article
Al-Tawil K, Ahmed G, Al-Hathal M, Al-Jarallah Y, Campbell N
Am J Perinatol 2000;17(3):121-6. doi: 10.1055/s-2000-9281. PMID: 11012135

Clinical prediction guides

Lin T, Shibasaki J, Yamamoto K, Shimokaze T, Toyoshima K
J Neonatal Perinatal Med 2024;17(2):247-254. doi: 10.3233/NPM-230171. PMID: 38640176
Toptan HH, Ozalkaya E, Karadag N, Topcuoglu S, Dincer E, Karatekin G
Indian J Pediatr 2024 Mar;91(3):248-253. Epub 2023 Apr 11 doi: 10.1007/s12098-023-04531-x. PMID: 37040015
Handal-Orefice R, Midura D, Wu JK, Parravicini E, Miller RS, Shawber CJ
Pediatrics 2023 Feb 1;151(2) doi: 10.1542/peds.2022-058555. PMID: 36651059
Wang B, Feng Y, Guo Y, Kan Q, Zou Y, Wu Y, Zheng M, Cheng R
J Cardiothorac Surg 2022 Oct 27;17(1):276. doi: 10.1186/s13019-022-02009-z. PMID: 36303149Free PMC Article
Dorsi M, Giuseppi A, Lesage F, Stirnemann J, De Saint Blanquat L, Nicloux M, Assaf Z, Khen Dunlop N, Kermorvant-Duchemin E, Magny JF, Ville Y, Lapillonne A
J Perinatol 2018 Jan;38(1):31-34. Epub 2017 Oct 19 doi: 10.1038/jp.2017.150. PMID: 29048403

Recent systematic reviews

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Concheiro-Guisan A, Alonso-Clemente S, Suarez-Albo M, Duran-Fernandez Feijoo C, Fiel-Ozores A, Fernandez-Lorenzo JR
Breastfeed Med 2019 Nov;14(9):648-653. Epub 2019 Aug 12 doi: 10.1089/bfm.2019.0100. PMID: 31403320

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