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Meningocele

MedGen UID:
44356
Concept ID:
C0025299
Disease or Syndrome
Synonyms: central nervous system meningocele; meningocele; meningocele (disease)
SNOMED CT: Meningocele (171131006)
 
HPO: HP:0002435
Monarch Initiative: MONDO:0001147
Orphanet: ORPHA93968

Definition

Protrusion of the meninges through a defect of the skull or vertebral column. [from HPO]

Conditions with this feature

Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Lateral meningocele syndrome
MedGen UID:
342070
Concept ID:
C1851710
Disease or Syndrome
NOTCH3-related lateral meningocele syndrome (LMS) is characterized by multiple lateral spinal meningoceles (protrusions of the arachnoid and dura through spinal foramina), distinctive facial features, joint hyperextensibility, hypotonia, and skeletal, cardiac, and urogenital anomalies. Neurologic sequelæ of the meningoceles depend on size and location and can include neurogenic bladder, paresthesia, back pain, and/or paraparesis. Other neurologic findings can include Chiari I malformation, syringomyelia, and rarely, hydrocephalus. Additional findings of LMS include developmental delay, mixed or conductive hearing loss, and cleft palate. Skeletal abnormalities may include scoliosis, vertebral fusion, scalloping of vertebrae, and wormian bones. Infants may demonstrate feeding difficulties with poor weight gain.
Meckel syndrome, type 2
MedGen UID:
351059
Concept ID:
C1864148
Disease or Syndrome
Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000).
Meckel syndrome, type 4
MedGen UID:
410003
Concept ID:
C1970161
Disease or Syndrome
Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Joubert syndrome 14
MedGen UID:
482396
Concept ID:
C3280766
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Cuoco JA, Klein BJ, Busch CM, Gosnell HL, Kar A, Marvin EA, Apfel LS
Pediatr Neurosurg 2020;55(1):2-11. Epub 2019 Dec 13 doi: 10.1159/000504060. PMID: 31838470
Milani HJF, Barreto EQS, Chau H, To NH, Moron AF, Meagher S, Da Silva Costa F, Araujo Júnior E
J Matern Fetal Neonatal Med 2020 Mar;33(5):736-742. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1500543. PMID: 30001658
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Recent clinical studies

Etiology

Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Fremion E, Bustillos P, Khavari R
Int Urogynecol J 2022 Mar;33(3):493-505. Epub 2021 Jun 3 doi: 10.1007/s00192-021-04860-5. PMID: 34081164
Schindelmann KH, Paschereit F, Steege A, Stoltenburg-Didinger G, Kaindl AM
J Neuropathol Exp Neurol 2021 Mar 22;80(4):294-305. doi: 10.1093/jnen/nlab007. PMID: 33576426
Shen W, Cui J, Chen J, Ji Y, Zou J, Chen H, Xiongzheng M
J Craniofac Surg 2013 May;24(3):934-6. doi: 10.1097/SCS.0b013e31828606a1. PMID: 23714914
James HE, Lubinsky G
J Neurosurg 2005 Nov;103(5 Suppl):443-5. doi: 10.3171/ped.2005.103.5.0443. PMID: 16302617

Diagnosis

Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
Han Y, Chen M, Wang H
Childs Nerv Syst 2022 May;38(5):903-907. Epub 2022 Feb 7 doi: 10.1007/s00381-022-05466-y. PMID: 35128567
Cheng C, Tao B, Bai S, Gao G, Li S, Shang A
Spine (Phila Pa 1976) 2020 Apr 1;45(7):444-451. doi: 10.1097/BRS.0000000000003296. PMID: 31651686
Kıymaz N, Yılmaz N, Güdü BO, Demir I, Kozan A
Pediatr Neurosurg 2010;46(5):351-6. Epub 2011 Feb 24 doi: 10.1159/000323414. PMID: 21346398
Geerts Y, Marchau M
J Spinal Disord 1992 Mar;5(1):116-21. doi: 10.1097/00002517-199203000-00017. PMID: 1533325

Therapy

Lee SY, Du Y, Hassan AS, Brown E, Saadai P, Hirose S, Wang A, Farmer DL
Fetal Diagn Ther 2023;50(6):491-500. Epub 2023 Jul 1 doi: 10.1159/000531750. PMID: 37393899Free PMC Article
Schulz LN, Tecle NE, Cleary R, Mercier P
Childs Nerv Syst 2020 Apr;36(4):869-871. Epub 2020 Feb 5 doi: 10.1007/s00381-019-04454-z. PMID: 32025870
Le HK, Cardona-Grau D, Chiang G
Neoreviews 2019 Dec;20(12):e711-e724. doi: 10.1542/neo.20-12-e711. PMID: 31792158
Copp AJ, Greene ND
Wiley Interdiscip Rev Dev Biol 2013 Mar-Apr;2(2):213-27. Epub 2012 May 29 doi: 10.1002/wdev.71. PMID: 24009034Free PMC Article
Wang EW, Vandergrift WA 3rd, Schlosser RJ
Otolaryngol Clin North Am 2011 Aug;44(4):845-56, vii. doi: 10.1016/j.otc.2011.06.018. PMID: 21819875

Prognosis

Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Chaturvedi A, Franco A, Chaturvedi A, Klionsky NB
Clin Imaging 2018 Nov-Dec;52:216-225. Epub 2018 Jul 21 doi: 10.1016/j.clinimag.2018.07.014. PMID: 30138861
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
Shen W, Cui J, Chen J, Ji Y, Zou J, Chen H, Xiongzheng M
J Craniofac Surg 2013 May;24(3):934-6. doi: 10.1097/SCS.0b013e31828606a1. PMID: 23714914
James HE, Lubinsky G
J Neurosurg 2005 Nov;103(5 Suppl):443-5. doi: 10.3171/ped.2005.103.5.0443. PMID: 16302617

Clinical prediction guides

You W, Lin ZR, Wang YZ, Wang WW, Lin RS, Qiu SQ, Guo AS
Curr Med Imaging 2023;19(9):1063-1070. doi: 10.2174/1573405619666230206103036. PMID: 36748216
Bolgeo T, Maconi A, Bertolotti M, Roveta A, Betti M, Gatti D, Boccafoschi C
Arch Ital Urol Androl 2020 Dec 18;92(4) doi: 10.4081/aiua.2020.4.314. PMID: 33348955
Arlet V
Eur Spine J 2015 Jan;24 Suppl 1:S93-106. Epub 2014 Nov 27 doi: 10.1007/s00586-014-3652-9. PMID: 25427670
Tandon V, Garg K, Mahapatra AK
Pediatr Neurosurg 2012;48(4):229-35. Epub 2013 Mar 23 doi: 10.1159/000349915. PMID: 23548822
Shields JA, Shields CL
Surv Ophthalmol 2004 May-Jun;49(3):281-99. doi: 10.1016/j.survophthal.2004.02.001. PMID: 15110666

Recent systematic reviews

Spinos D, Geropoulos G, Vavoulis G, Georgountzos G, Papageorgakopoulou M, Karela NR, Varoutis P, Evangelou K, Cho WS
Laryngoscope 2024 May;134(5):2012-2018. Epub 2024 Feb 24 doi: 10.1002/lary.31349. PMID: 38400793
Martínez JL, Domingo RA, Rowland NC, Vandergrift Iii WA
Neurol India 2022 May-Jun;70(3):857-863. doi: 10.4103/0028-3886.349629. PMID: 35864609
Singh R, Thorwarth RM, Bendok BR, Rath TJ, Bhuskute AA, Gnagi SH, Lal D
J Neurosurg Pediatr 2022 Apr 1;29(4):379-386. Epub 2022 Jan 14 doi: 10.3171/2021.11.PEDS21388. PMID: 35171832
Fremion E, Bustillos P, Khavari R
Int Urogynecol J 2022 Mar;33(3):493-505. Epub 2021 Jun 3 doi: 10.1007/s00192-021-04860-5. PMID: 34081164
Komotar RJ, Starke RM, Raper DM, Anand VK, Schwartz TH
J Neurol Surg A Cent Eur Neurosurg 2013 Jul;74(4):239-50. Epub 2012 Oct 1 doi: 10.1055/s-0032-1325636. PMID: 23027433

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