Spina bifida
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Pathophysiology
- Spina bifida is a congenital malformation in which the spinal column is split (bifid) as a result of failed closure of the embryonic neural tube, during the fourth week post-fertilization.[1]
- Spina bifida occulta: In this type of spina bifida, the defect of vertebrate is covered by skin ("Occulta" means "hidden"). The spinal cord does not stick out through the skin, although the skin over the lower spine may have a patch of hair, a birthmark, or a dimple above the groove between the buttocks.[1]
- Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.[1]
Risk Factors
- Common risk factors in the development of spina bifida are disturbed folate/homocysteine metabolism[2][3], presence of spina bifida patients within third-degree relatives[3], taking anti-epileptic drugs without folic acid[3], and low birth weight in the newborns ≤ 2500 g.[3]
Diagnosis
Symptoms
Physical examination
- Spinal area discoloration or birthmarks may be the only sign in the newborns with spina bifida occulta
- Protrusions in the lumbar spine
- Dimples in the lumbar spine
- Hair patch along the spine
- Hydrocephalus signs may be present:
- Enlarging head
- Bulging fontanelle
- Enlarged scalp veins
- Cranial bones suture diastasis
- Positive Macewen sign
- Paralysis
- Sensation problems
- Scoliosis
- Pressure ulcers
- Learning disabilities
- Hydrocephalus signs may be present:
Laboratory Findings
- There are no specific laboratory findings associated with spina bifida.
- An elevated concentration of Maternal Serum Alpha-Fetoprotein may be predictive for contemporary detection of spina bifida.[5]
Imaging Findings
- Three-dimensional ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions.[6]
- Ultrasound also is the gold standard diagnostic tool for spina bifida.[6]
- On Three-dimensional ultrasound, spina bifida is characterized by:[7]
- Vertebral defect
- Splayed vertebral pedicles
- Disrupted vertebrae
Treatment
Surgery
- Prenatal surgery is the preferred treatment for spina bifida and it usually is done before the 26th week of pregnancy.[8][9]
- Intrauterine repair of spina bifida confers multiple advantages to infants, including:[9]
- Lower rates of shunt dependency
- Lower rates of hindbrain herniation
- Better motor and disability functional outcomes
- Surgery after birth is done in patients who did not underwent prenatal surgery but the prognosis is worse and there are more possible complications after surgery in comparison with the prenatal surgery.
Prevention
- A protective effect of folate against the development of neural tube defects (NTDs), specifically, spina bifida, is now well recognized, having been established by a lot of clinical research studies over the past half-century.[10]
- Effective measures for the primary prevention of spina bifida include:[11]
- Not drinking alcohol
- Not smoking
- Not taking drugs
- Taking Folic Acid
- Taking oral daily folate is recommended for all pregnant women.[10]
- Neural tube closure is completed 28 days (four weeks) from conception, and the preventive effect of folic acid is not effective after that period.[12]
- So, folate supplementation should start at least 4 weeks before conception and it should continue until at least two months after conception.[12]
- The recommended intakes of folate are 4 mg/d for those at high-risk pregnancies(by virtue of a previous NTD pregnancy outcome) and 0.4 mg/d for all others.[10]
References
- ↑ 1.0 1.1 1.2 1.3 Kenworthy ME (July 1966). "Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie". Am J Orthopsychiatry. 36 (4): 587–9. PMID 5327787.
- ↑ De Marco P, Merello E, Calevo MG, Mascelli S, Pastorino D, Crocetti L, De Biasio P, Piatelli G, Cama A, Capra V (July 2011). "Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study". Childs Nerv Syst. 27 (7): 1073–81. doi:10.1007/s00381-010-1372-y. PMID 21207040.
- ↑ 3.0 3.1 3.2 3.3 Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T (September 2013). "Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan". Birth Defects Res. Part A Clin. Mol. Teratol. 97 (9): 610–5. doi:10.1002/bdra.23179. PMID 24078478.
- ↑ Bannur BB, Purandare GM (February 1969). "Microbial production of L-lysine". Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.
- ↑ Racusin DA, Villarreal S, Antony KM, Harris RA, Mastrobattista J, Lee W, Shamshirsaz AA, Belfort M, Aagaard KM (December 2015). "Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida". Am J Perinatol. 32 (14): 1287–91. doi:10.1055/s-0035-1562930. PMID 26332586.
- ↑ 6.0 6.1 Trudell AS, Odibo AO (April 2014). "Diagnosis of spina bifida on ultrasound: always termination?". Best Pract Res Clin Obstet Gynaecol. 28 (3): 367–77. doi:10.1016/j.bpobgyn.2013.10.006. PMID 24373566.
- ↑ Lee W, Chaiworapongsa T, Romero R, Williams R, McNie B, Johnson A, Treadwell M, Comstock CH (June 2002). "A diagnostic approach for the evaluation of spina bifida by three-dimensional ultrasonography". J Ultrasound Med. 21 (6): 619–26. PMID 12054297.
- ↑ Ciovîrnache M, Simionescu L, Ioaniţiu D (1990). "[A study of palmar flexion folds by the Perera-Kolski quantitative method in acromegaly]". Endocrinologie (in French). 28 (2): 57–62. PMID 2293328.
- ↑ 9.0 9.1 Tilles DS, Goldenheim PD, Johnson DC, Mendelson JH, Mello NK, Hales CA (April 1986). "Marijuana smoking as cause of reduction in single-breath carbon monoxide diffusing capacity". Am. J. Med. 80 (4): 601–6. PMID 3963040.
- ↑ 10.0 10.1 10.2 Pitkin RM (January 2007). "Folate and neural tube defects". Am. J. Clin. Nutr. 85 (1): 285S–288S. doi:10.1093/ajcn/85.1.285S. PMID 17209211.
- ↑ Srb V, Kubzová E (1987). "[Comparison of the effects of 1st and 3d generation platinum cytostatics on the chromosomes of lymphocytes in human peripheral blood in vitro]". Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove Suppl (in Czech). 30 (4): 475–83. PMID 3504607.
- ↑ 12.0 12.1 Alt TH (March 1988). "Aids to scalp reduction surgery". J Dermatol Surg Oncol. 14 (3): 309–15. PMID 3279093.