U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spontaneous cerebrospinal fluid leak

MedGen UID:
827161
Concept ID:
C3850067
Pathologic Function
Synonyms: Cerebrospinal Fluid Drainage, Spontaneous; Cerebrospinal Fluid Leak, Spontaneous; Cerebrospinal Fluid Leakage, Spontaneous; Spinal Cerebrospinal Fluid Leak, Spontaneous
SNOMED CT: Spontaneous leak of cerebrospinal fluid of spine (813925041000119103); Spontaneous spinal cerebrospinal fluid leak (813925041000119103)
 
HPO: HP:0032934

Definition

A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpontaneous cerebrospinal fluid leak

Conditions with this feature

Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.

Professional guidelines

PubMed

Labeyrie MA, Fantoni M, Vever U, Guedon A, Bonnin S, Bernat AL, Verillaud B, Houdart E
Diagn Interv Imaging 2021 Oct;102(10):619-627. Epub 2021 Jun 11 doi: 10.1016/j.diii.2021.05.008. PMID: 34127434
Soler ZM, Schlosser RJ
Adv Otorhinolaryngol 2013;74:92-103. Epub 2012 Dec 18 doi: 10.1159/000342284. PMID: 23257556

Recent clinical studies

Etiology

Miller EM, Raymond MJ, Ottinger AM, Yazdani M, Meyer TA
Otol Neurotol 2023 Oct 1;44(9):896-902. Epub 2023 Aug 14 doi: 10.1097/MAO.0000000000003992. PMID: 37590873
Alicandri-Ciufelli M, Fermi M, Rosa MS, Garzaro M, Presutti L
Am J Rhinol Allergy 2020 May;34(3):382-387. Epub 2020 Jan 13 doi: 10.1177/1945892419900485. PMID: 31928352
Tam EK, Gilbert AL
Curr Opin Ophthalmol 2019 Nov;30(6):467-471. doi: 10.1097/ICU.0000000000000603. PMID: 31449087
Doubi AO, Aljomah DS, Alhargan AO, Alfawwaz FS
Neurosciences (Riyadh) 2018 Oct;23(4):281-285. doi: 10.17712/nsj.2018.4.20180116. PMID: 30351284Free PMC Article
Chaaban MR, Illing E, Riley KO, Woodworth BA
Laryngoscope 2014 Jan;124(1):70-5. Epub 2013 Jun 20 doi: 10.1002/lary.24160. PMID: 23788232

Diagnosis

Marenco-Hillembrand L, Alvarez-Elcoro S, Olomu OU, Quinones-Hinojosa A, Gupta V, Gonzalez-Estrada A
J Allergy Clin Immunol Pract 2020 Feb;8(2):734-735. Epub 2019 Oct 9 doi: 10.1016/j.jaip.2019.09.019. PMID: 31606393
Stevens SM, Smith CJ, Lawton M
Curr Opin Otolaryngol Head Neck Surg 2019 Oct;27(5):361-368. doi: 10.1097/MOO.0000000000000559. PMID: 31361610
Bidot S, Levy JM, Saindane AM, Oyesiku NM, Newman NJ, Biousse V
J Neuroophthalmol 2019 Dec;39(4):487-495. doi: 10.1097/WNO.0000000000000761. PMID: 30747786Free PMC Article
Stevens SM, Rizk HG, Golnik K, Andaluz N, Samy RN, Meyer TA, Lambert PR
Laryngoscope 2018 Jan;128(1):248-256. Epub 2017 Mar 27 doi: 10.1002/lary.26581. PMID: 28349571
Soler ZM, Schlosser RJ
Adv Otorhinolaryngol 2013;74:92-103. Epub 2012 Dec 18 doi: 10.1159/000342284. PMID: 23257556

Therapy

Ottinger AM, Raymond MJ, Miller EM, Meyer TA
Otol Neurotol 2024 Apr 1;45(4):e351-e358. Epub 2024 Feb 28 doi: 10.1097/MAO.0000000000004136. PMID: 38437814Free PMC Article
Ganesh PB, Basavarajaiah BM, Rudrappa BA, Kasaragod SK
J Laryngol Otol 2020 Jul;134(7):582-585. Epub 2020 Jul 16 doi: 10.1017/S0022215120000845. PMID: 32672143
Doubi AO, Aljomah DS, Alhargan AO, Alfawwaz FS
Neurosciences (Riyadh) 2018 Oct;23(4):281-285. doi: 10.17712/nsj.2018.4.20180116. PMID: 30351284Free PMC Article
Teachey W, Grayson J, Cho DY, Riley KO, Woodworth BA
Laryngoscope 2017 Sep;127(9):2011-2016. Epub 2017 May 16 doi: 10.1002/lary.26612. PMID: 28512741
Davis J, Yanny I, Chatu S, Dubois P, Hayee B, Moran N
J Med Case Rep 2014 Dec 21;8:456. doi: 10.1186/1752-1947-8-456. PMID: 25528347Free PMC Article

Prognosis

Lin GC, Paz M, Porrmann JW, Scharf R, Benitez RP, Moshel YA
JAMA Otolaryngol Head Neck Surg 2020 Oct 1;146(10):973-975. doi: 10.1001/jamaoto.2020.2394. PMID: 32910142
Alicandri-Ciufelli M, Fermi M, Rosa MS, Garzaro M, Presutti L
Am J Rhinol Allergy 2020 May;34(3):382-387. Epub 2020 Jan 13 doi: 10.1177/1945892419900485. PMID: 31928352
Kim L, Wisely CE, Dodson EE
Otolaryngol Head Neck Surg 2014 Mar;150(3):472-8. Epub 2014 Jan 6 doi: 10.1177/0194599813518173. PMID: 24395620
Hashizume K, Watanabe K, Kawaguchi M, Fujiwara A, Furuya H
Clin Neurol Neurosurg 2013 Aug;115(8):1403-6. Epub 2013 Feb 23 doi: 10.1016/j.clineuro.2013.01.022. PMID: 23462186
Leep Hunderfund AN, Mokri B
J Neurol 2012 Feb;259(2):306-10. Epub 2011 Aug 3 doi: 10.1007/s00415-011-6181-z. PMID: 21811806

Clinical prediction guides

Bulbul MG, Kais A, Lawrence J, Lewis J, Kellermeyer BM
Am J Otolaryngol 2024 Jul-Aug;45(4):104345. Epub 2024 Apr 27 doi: 10.1016/j.amjoto.2024.104345. PMID: 38701729
Labeyrie MA, Bedarida V, Vever U, Guedon A, Herman P, Verillaud B, Houdart E
J Neuroradiol 2022 Mar;49(2):164-168. Epub 2021 Jul 14 doi: 10.1016/j.neurad.2021.07.002. PMID: 34273358
Labeyrie MA, Fantoni M, Vever U, Guedon A, Bonnin S, Bernat AL, Verillaud B, Houdart E
Diagn Interv Imaging 2021 Oct;102(10):619-627. Epub 2021 Jun 11 doi: 10.1016/j.diii.2021.05.008. PMID: 34127434
Bedarida V, Labeyrie MA, Eliezer M, Saint-Maurice JP, Jourdaine C, Gargalas S, Herman P, Houdart E, Verillaud B
Int Forum Allergy Rhinol 2020 Dec;10(12):1295-1299. Epub 2020 Jul 23 doi: 10.1002/alr.22660. PMID: 32702193
Stevens SM, Smith CJ, Lawton M
Curr Opin Otolaryngol Head Neck Surg 2019 Oct;27(5):361-368. doi: 10.1097/MOO.0000000000000559. PMID: 31361610

Recent systematic reviews

Saltagi AK, Saltagi MZ, Kedo M, Shah MV, Nelson RF
Otol Neurotol 2024 Mar 1;45(3):215-222. Epub 2024 Feb 7 doi: 10.1097/MAO.0000000000004107. PMID: 38361289
Villani LA, Digre KB, Cortez MM, Bokat C, Rassner UA, Ozudogru SN
Headache 2021 Feb;61(2):244-252. Epub 2021 Feb 13 doi: 10.1111/head.14076. PMID: 33583044
Teachey W, Grayson J, Cho DY, Riley KO, Woodworth BA
Laryngoscope 2017 Sep;127(9):2011-2016. Epub 2017 May 16 doi: 10.1002/lary.26612. PMID: 28512741

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...