Ryggmargsbrokk
Sist revidert:
Sist revidert av:Thea Vigen
Definisjon:
Manglende sammenvoksing av ryggraden baktil (spina bifida) kan føre til ulike grader av brokkdannelse av ryggmarg og hjernehinner (myelomeningocele). Disponerende faktorer er familiehistorie, folatmangel i svangerskapet, maternell diabetes og enkelte medikamenter
Forekomst:
Insidens i Norge ca. 0,4 per 1000 svangerskap. 4 tilfeller i 2017
Symptomer:
Gir ofte nevrologiske, motoriske og kognitive symptomer av ulik grad
Funn:
Avhenger av defektens nivå. Betydelig risiko for sensori-motorisk funksjonstap. Over 80% har hydrocefalus, 60-90% har Chiari malformasjon, 90% har nevrogen tarm- og/eller blæreforstyrrelse. Mange har kognitive utfordringer
Diagnostikk:
CT/MR/ultralyd for å vurdere omfang av defekten samt eventuell hydrocefalus
Behandling:
Tidlig behandling er kirurgisk lukking av spinaldefekten, deretter livslang, individuelt tilpasset oppfølging og behandling i spesialisthelsetjenesten
- Veileder med huskeliste: Medisinsk oppfølging av voksne med ryggmargsbrokk – for fastleger og leger i habiliteringstjenesten. TRS kompetansesenter for sjeldne diagnoser. Sist oppdatert 01.05.2022
- Mitchell LE, Scott Adzick N, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet 2004; 364: 1885-95. PubMed
- Aden P. Myelomeningocele (MMC), ryggmargsbrokk. Generell veileder i pediatri. Sist faglig oppdatert 01.02.2019. Siden lest 28.06.2023. www.helsebiblioteket.no
- Sunnaas sykehus. Medisinske forhold ved ryggmargsbrokk. Sist oppdatert 01.05.2022. www.sunnaas.no
- Veileder med huskeliste: Medisinsk oppfølging av voksne med ryggmargsbrokk – for fastleger og leger i habiliteringstjenesten. Utformet at overlege Marie Hoff og spesialsykepleier Karen Grimsrud. TRS kompetansesenter for sjeldne diagnoser. Sist oppdatert 01.05.2022
- Copp AJ, Adzick NS, Chitty LS, et al. Spina bifida. Nat Rev Dis Primers 2015. pmid:27189655 PubMed
- Wilde JJ, Petersen JR, Niswander L. Genetic, Epigenetic, and Environmental Contributions to Neural Tube Closure. Annu Rev Genet 2014; 48: 583-611. pmid:25292356 PubMed
- De Wals P, Tairou F, Van Allen MI, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 2007;357:135-142. PubMed
- McLeod L, Ray JG. Prevention and detection of diabetic embryopathy. Community Genet 2002; 5: 33-39. PubMed
- Koren G. Safe use of valproic acid during pregnancy. Can Fam Physician 1999; 45: 1451-53. PubMed
- Matalon S, Schechtman S, Goldzweig G, Ornoy A. The teratogenic effect of carbamazepine: a meta-analysis of 1255 exposures. Reprod Toxicol 2002; 16: 9-17. PubMed
- Jentink J, Dolk H, Loane MA, et al. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study. BMJ 2010; 341: c6581. BMJ (DOI)
- Watkins ML, Ratashak SA, Honein MA, Botto LD, Moore CA. Maternal obesity and risk for birth defects. Pediatrics 2003; 111: 1152-58. Pediatrics
- Ray JG, Blom HJ. Vitamin B12 insufficiency and the risk of fetal neural tube defects. QJM 2003; 96: 289-95. PubMed
- Sepulveda W, Corral E, Ayala C, Be C, Gutierrez J, Vasquez P. Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 2004; 23: 352-56. PubMed
- Benjamin RH, Lopez A, Mitchell LE, et al. Mortality by mode of delivery among infants with spina bifida in Texas. Birth Defects Res. 2019 Nov 15;111(19):1543-1550.PMID: 31642615. PubMed
- Webb TS. Medical care of adults with spina bifida. J Pediatr Rehabil Med 2009; 2: 3-11. pmid:21791790 PubMed
- Emmanuel A. Review of the efficacy and safety of transanal irrigation for neurogenic bowel dysfunction. Spinal Cord 2010; 48: 664-73. pmid:20142830 PubMed
- McPherson AC, Chen L, O'Neil J, Vanderbom KA. Nutrition, metabolic syndrome, and obesity: Guidelines for the care of people with spina bifida. J Pediatr Rehabil Med. 2020;13(4):637-653. PMID: 33325412. PubMed
- Oakeshott P, Hunt GM, Poulton A, Reid F.. Expectation of life and unexpected death in open spina bifida: a 40-year complete, non-selective, longitudinal cohort study. . Dev Med Child Neurol 2010; 52: 749-53. pmid:20015251 PubMed
- Webb TS. Optimizing health care for adults with spina bifida. Dev Disabil Res Rev 2010; 16: 76-81. pmid:20419774 PubMed
- Dicianno BE, Wilson R. Hospitalizations of adults with spina bifida and congenital spinal cord anomalies. Arch Phys Med Rehabil 2010; 91: 529-35. pmid:20382283 PubMed
- Johnston LB, Borzyskowski M. Bladder dysfunction and neurological disability at presentation in closed spina bifida. Arch Dis Child 1998; 79: 33-38. PubMed
- McLone DG, Bowman RM. Overview of the management of myelomeningocele (spina bifida). UpToDate, last updated Nov 17, 2015. UpToDate
- Houtrow AJ, MacPherson C, Jackson-Coty J et al. Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial. JAMA Pediatr. 2021 Feb 8:e205674. Epub ahead of print. PMID: 33555337. PubMed
- Bolt J, Rawicki B, Donellan S. Urological management of spina bifida. Aust Fam Physician 2001; 30: (suppl 2) 21-24.
- Bauer SB. The management of the myelodysplastic child: a paradigm shift. Br J Urol 2003; 92 :(suppl 1) 23-28.
- American Academy of Pediatrics Committee on Children with Disabilities. The role of the pediatrician in transitioning children and adolescents with developmental disabilities and chronic illness from school to work and college. Pediatrics 2000; 106: 854-56. Pediatrics
- Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr 2000; 30: 313-32. PubMed
- Bowman RM, McLone DG, Grant JA, Tomita T, Jacobsen JS. Spina bifida outcome: a 25-year prospective. Pediatr Neurosurg 2001; 34: 114-20. PubMed
- McDonnell GV, McCann JP. Why do adults with spina bifida and hydrocephalus die? A clinic-based study. Eur J Pediatr Surg 2000; 10 :(suppl I) 31-32.
- Leibold S, Ekmark E, Adams RC. Decision making for a successful bowel continence program. Eur J Pediatr Surg 2000; 10: 26-30. PubMed
- Perez M, Lemelle JL, Barthelme H, Marquand D, Schmitt M. Bowel management with antegrade colonic enema using a malone or monti conduit--clinical results. Eur J Pediatr Surg 2001; 11: 315-18. PubMed
- Peyronnet B, Gao F, Brochard C, et al. Urologic Disorders are Still the Leading Cause of In-hospital Death in Patients With Spina Bifida. Urology. 2020 Mar;137:200-204. PMID: 31734348. PubMed
- Thea Vigen, PhD, overlege Sunnaas sykehus
- Tor Andre Johannessen, lege og redaktør NEL (tilpasning til NEL)
Tidligere fagmedarbeidere
- Marie Hoff, overlege, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus og Nasjonal kompetansetjeneste for sjeldne diagnoser
- Karen Grimsrud, spesialsykepleier, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus og Nasjonal kompetansetjeneste for sjeldne diagnoser
- Kurt Østhuus Krogh, spesialist i barnesykdommer, Norsk Helseinformatikk/ Barne-og ungdomsklinikken, St. Olavs Hospital
- Espen Dietrichs, professor og avdelingsoverlege, Universitetet i Oslo og Nevrologisk avdeling, Rikshospitalet, Oslo