U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hydromyelia

MedGen UID:
450992
Concept ID:
C0152444
Congenital Abnormality; Disease or Syndrome
Synonym: Hydrorachis
SNOMED CT: Hydrorachis (11197005); Hydromyelia (11197005)
 
HPO: HP:0100565

Definition

Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. [from HPO]

Term Hierarchy

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.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MedGen UID:
815372
Concept ID:
C3809042
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
IFAP syndrome 1, with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.

Professional guidelines

PubMed

Kleindienst A, Laut FM, Roeckelein V, Buchfelder M, Dodoo-Schittko F
Acta Neurochir (Wien) 2020 Oct;162(10):2541-2556. Epub 2020 Aug 20 doi: 10.1007/s00701-020-04529-w. PMID: 32820376Free PMC Article
Carroll NC
Orthop Clin North Am 1987 Oct;18(4):709-24. PMID: 3313170
Schlesinger EB, Antunes JL, Michelsen WJ, Louis KM
Neurosurgery 1981 Oct;9(4):356-65. doi: 10.1227/00006123-198110000-00002. PMID: 7301079

Recent clinical studies

Etiology

Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Yoshioka F, Shimokawa S, Koguchi M, Ito H, Ogata A, Inoue K, Takase Y, Tanaka T, Nakahara Y, Masuoka J, Abe T
Spine (Phila Pa 1976) 2018 Feb 1;43(3):E177-E184. doi: 10.1097/BRS.0000000000002270. PMID: 28604485
Blegvad C, Grotenhuis JA, Juhler M
Acta Neurochir (Wien) 2014 Nov;156(11):2127-38. Epub 2014 Sep 19 doi: 10.1007/s00701-014-2229-z. PMID: 25236931
Moskowitz D, Shurtleff DB, Weinberger E, Loeser J, Ellenbogen R
Eur J Pediatr Surg 1998 Dec;8 Suppl 1:18-21. doi: 10.1055/s-2008-1071246. PMID: 9926318
Menezes AH
Pediatr Neurosurg 1991-1992;17(3):146-54. doi: 10.1159/000120586. PMID: 1819330

Diagnosis

Leclerc A, Matveeff L, Emery E
Rev Neurol (Paris) 2021 May;177(5):498-507. Epub 2020 Aug 18 doi: 10.1016/j.neurol.2020.07.004. PMID: 32826067
Mancarella C, Delfini R, Landi A
Acta Neurochir Suppl 2019;125:89-95. doi: 10.1007/978-3-319-62515-7_13. PMID: 30610307
Johnston I, Teo C
Childs Nerv Syst 2000 Nov;16(10-11):776-99. doi: 10.1007/s003810000383. PMID: 11151732
Wisoff JH, Epstein F
Neurosurgery 1989 Oct;25(4):562-71. doi: 10.1097/00006123-198910000-00009. PMID: 2797394
Wisoff JH
Childs Nerv Syst 1988 Feb;4(1):1-8. doi: 10.1007/BF00274073. PMID: 3042131

Therapy

Gallo P, Kaliaperumal C
Adv Tech Stand Neurosurg 2022;45:317-338. doi: 10.1007/978-3-030-99166-1_10. PMID: 35976455
Kleindienst A, Laut FM, Roeckelein V, Buchfelder M, Dodoo-Schittko F
Acta Neurochir (Wien) 2020 Oct;162(10):2541-2556. Epub 2020 Aug 20 doi: 10.1007/s00701-020-04529-w. PMID: 32820376Free PMC Article
Unsinn KM, Geley T, Freund MC, Gassner I
Radiographics 2000 Jul-Aug;20(4):923-38. doi: 10.1148/radiographics.20.4.g00jl06923. PMID: 10903684
Rekate HL
Clin Neurosurg 1985;32:593-607. PMID: 2415285
Jinkins JR, Bashir R, Al-Mefty O, Al-Kawi MZ, Fox JL
Lancet 1977 Sep 3;2(8036):487-8. PMID: 70693Free PMC Article

Prognosis

Scaramuzzo L, Giudici F, Archetti M, Minoia L, Zagra A, Bongetta D
Clin Spine Surg 2019 May;32(4):E183-E187. doi: 10.1097/BSD.0000000000000820. PMID: 30913042
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Caldarelli M, Di Rocco C, La Marca F
Surg Neurol 1998 Nov;50(5):411-20. doi: 10.1016/s0090-3019(97)00457-6. PMID: 9842864
Menezes AH
Pediatr Neurosurg 1991-1992;17(3):146-54. doi: 10.1159/000120586. PMID: 1819330
Wisoff JH
Childs Nerv Syst 1988 Feb;4(1):1-8. doi: 10.1007/BF00274073. PMID: 3042131

Clinical prediction guides

Scaramuzzo L, Giudici F, Archetti M, Minoia L, Zagra A, Bongetta D
Clin Spine Surg 2019 May;32(4):E183-E187. doi: 10.1097/BSD.0000000000000820. PMID: 30913042
Yoshioka F, Shimokawa S, Koguchi M, Ito H, Ogata A, Inoue K, Takase Y, Tanaka T, Nakahara Y, Masuoka J, Abe T
Spine (Phila Pa 1976) 2018 Feb 1;43(3):E177-E184. doi: 10.1097/BRS.0000000000002270. PMID: 28604485
Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E
JAMA Neurol 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. PMID: 24957169
Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P
Neurosurgery 2006 Mar;58(3):509-15; discussion 509-15. doi: 10.1227/01.NEU.0000197122.92954.82. PMID: 16528191
Caldarelli M, Di Rocco C, La Marca F
Surg Neurol 1998 Nov;50(5):411-20. doi: 10.1016/s0090-3019(97)00457-6. PMID: 9842864

Recent systematic reviews

Kleindienst A, Laut FM, Roeckelein V, Buchfelder M, Dodoo-Schittko F
Acta Neurochir (Wien) 2020 Oct;162(10):2541-2556. Epub 2020 Aug 20 doi: 10.1007/s00701-020-04529-w. PMID: 32820376Free PMC Article

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...