|
|
| (11 intermediate revisions by 3 users not shown) |
| Line 1: |
Line 1: |
| __NOTOC__ | | __NOTOC__ |
| {{Spina bifida}} | | {{Spina bifida}} |
| | {{CMG}}; {{AE}}, {{MMJ}}, {{M.B}} |
| | ==[[Spina bifida overview|Overview]]== |
|
| |
|
| {{CMG}}; {{AE}} {{MMJ}}
| | ==[[Spina bifida historical perspective|Historical Perspective]]== |
| ==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.<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
| |
| * [[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]].<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
| |
| * Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.<ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
| |
| ==Risk Factors==
| |
| *Common risk factors in the development of spina bifida are disturbed [[folate]]/[[homocysteine]] metabolism<ref name="pmid21207040">{{cite journal |vauthors=De Marco P, Merello E, Calevo MG, Mascelli S, Pastorino D, Crocetti L, De Biasio P, Piatelli G, Cama A, Capra V |title=Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study |journal=Childs Nerv Syst |volume=27 |issue=7 |pages=1073–81 |date=July 2011 |pmid=21207040 |doi=10.1007/s00381-010-1372-y |url=}}</ref><ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>, presence of spina bifida patients within third-degree relatives<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>, taking [[Anti-epileptic drugs|anti-epileptic]] drugs without [[Folic Acid|folic acid]]<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>[[Folic Acid|,]] and [[low birth weight]] in the [[newborns]] ≤ 2500 g.<ref name="pmid24078478">{{cite journal |vauthors=Kondo A, Morota N, Ihara S, Saisu T, Inoue K, Shimokawa S, Fujimaki H, Matsuo K, Shimosuka Y, Watanabe T |title=Risk factors for the occurrence of spina bifida (a case-control study) and the prevalence rate of spina bifida in Japan |journal=Birth Defects Res. Part A Clin. Mol. Teratol. |volume=97 |issue=9 |pages=610–5 |date=September 2013 |pmid=24078478 |doi=10.1002/bdra.23179 |url=}}</ref>
| |
|
| |
|
| == Diagnosis == | | ==[[Spina bifida classification|Classification]]== |
| === Symptoms ===
| |
|
| |
|
| === Physical examination === | | ==[[Spina bifida pathophysiology|Pathophysiology]]== |
| *Physical examination of patients with spina bifida may be remarkable for:<ref name="pmid4898641">{{cite journal |vauthors=Bannur BB, Purandare GM |title=Microbial production of L-lysine |journal=Hindustan Antibiot Bull |volume=11 |issue=3 |pages=191–205 |date=February 1969 |pmid=4898641 |doi= |url=}}</ref><ref name="pmid5327787">{{cite journal |vauthors=Kenworthy ME |title=Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie |journal=Am J Orthopsychiatry |volume=36 |issue=4 |pages=587–9 |date=July 1966 |pmid=5327787 |doi= |url=}}</ref>
| |
| :* 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:
| | ==[[Spina bifida causes|Causes]]== |
| :**Enlarging head
| |
| :**Bulging [[fontanelle]]
| |
| :**Enlarged [[scalp veins]]
| |
| :**[[Cranial bones]] [[suture]] [[diastasis]]
| |
| :**Positive [[Macewen's sign|Macewen sign]]
| |
| :*[[Paralysis]]
| |
| :*Sensation problems
| |
| :*[[Scoliosis]]
| |
| :*Pressure [[Ulcer|ulcers]]
| |
| :*Learning disabilities
| |
|
| |
|
| === Laboratory Findings === | | ==[[Spina bifida differential diagnosis|Differentiating Spina bifida from other Diseases]]== |
| *There are no specific laboratory findings associated with spina bifida.
| |
|
| |
|
| *An elevated concentration of Maternal Serum [[Alpha-fetoprotein|Alpha-Fetoprotein]] may be predictive for contemporary detection of spina bifida.<ref name="pmid26332586">{{cite journal |vauthors=Racusin DA, Villarreal S, Antony KM, Harris RA, Mastrobattista J, Lee W, Shamshirsaz AA, Belfort M, Aagaard KM |title=Role of Maternal Serum Alpha-Fetoprotein and Ultrasonography in Contemporary Detection of Spina Bifida |journal=Am J Perinatol |volume=32 |issue=14 |pages=1287–91 |date=December 2015 |pmid=26332586 |doi=10.1055/s-0035-1562930 |url=}}</ref>
| | ==[[Spina bifida epidemiology and demographics|Epidemiology and Demographics]]== |
|
| |
|
| ===Imaging Findings=== | | ==[[Spina bifida risk factors|Risk Factors]]== |
| *Three-dimensional ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions.<ref name="pmid24373566">{{cite journal |vauthors=Trudell AS, Odibo AO |title=Diagnosis of spina bifida on ultrasound: always termination? |journal=Best Pract Res Clin Obstet Gynaecol |volume=28 |issue=3 |pages=367–77 |date=April 2014 |pmid=24373566 |doi=10.1016/j.bpobgyn.2013.10.006 |url=}}</ref>
| |
| *Ultrasound also is the gold standard diagnostic tool for spina bifida.<ref name="pmid24373566">{{cite journal |vauthors=Trudell AS, Odibo AO |title=Diagnosis of spina bifida on ultrasound: always termination? |journal=Best Pract Res Clin Obstet Gynaecol |volume=28 |issue=3 |pages=367–77 |date=April 2014 |pmid=24373566 |doi=10.1016/j.bpobgyn.2013.10.006 |url=}}</ref>
| |
| *On Three-dimensional ultrasound, spina bifida is characterized by:<ref name="pmid12054297">{{cite journal |vauthors=Lee W, Chaiworapongsa T, Romero R, Williams R, McNie B, Johnson A, Treadwell M, Comstock CH |title=A diagnostic approach for the evaluation of spina bifida by three-dimensional ultrasonography |journal=J Ultrasound Med |volume=21 |issue=6 |pages=619–26 |date=June 2002 |pmid=12054297 |doi= |url=}}</ref>
| |
| **[[Vertebral anomalies|Vertebral defect]]
| |
| **Splayed [[Vertebral|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]].<ref name="pmid2293328">{{cite journal |vauthors=Ciovîrnache M, Simionescu L, Ioaniţiu D |title=[A study of palmar flexion folds by the Perera-Kolski quantitative method in acromegaly] |language=French |journal=Endocrinologie |volume=28 |issue=2 |pages=57–62 |date=1990 |pmid=2293328 |doi= |url=}}</ref><ref name="pmid3963040">{{cite journal |vauthors=Tilles DS, Goldenheim PD, Johnson DC, Mendelson JH, Mello NK, Hales CA |title=Marijuana smoking as cause of reduction in single-breath carbon monoxide diffusing capacity |journal=Am. J. Med. |volume=80 |issue=4 |pages=601–6 |date=April 1986 |pmid=3963040 |doi= |url=}}</ref>
| |
| *Intrauterine repair of spina bifida confers multiple advantages to [[infants]], including:<ref name="pmid3963040">{{cite journal |vauthors=Tilles DS, Goldenheim PD, Johnson DC, Mendelson JH, Mello NK, Hales CA |title=Marijuana smoking as cause of reduction in single-breath carbon monoxide diffusing capacity |journal=Am. J. Med. |volume=80 |issue=4 |pages=601–6 |date=April 1986 |pmid=3963040 |doi= |url=}}</ref>
| |
| **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 === | | ==[[Spina bifida screening|Screening]]== |
| *A protective effect of [[folate]] against the development of [[neural tube defect]]s (NTDs), specifically, spina bifida, is now well recognized, having been established by a lot of clinical research studies over the past half-century.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
| |
| *Effective measures for the primary prevention of spina bifida include:<ref name="pmid3504607">{{cite journal |vauthors=Srb V, Kubzová E |title=[Comparison of the effects of 1st and 3d generation platinum cytostatics on the chromosomes of lymphocytes in human peripheral blood in vitro] |language=Czech |journal=Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove Suppl |volume=30 |issue=4 |pages=475–83 |date=1987 |pmid=3504607 |doi= |url=}}</ref>
| |
| **Not drinking alcohol
| |
| **Not smoking
| |
| **Not taking drugs
| |
| **Taking [[Folic Acid]]
| |
| *Taking oral daily [[folate]] is recommended for all pregnant women.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
| |
| *Neural tube closure is completed 28 days (four weeks) from conception, and the preventive effect of folic acid is not effective after that period.<ref name="pmid3279093">{{cite journal |vauthors=Alt TH |title=Aids to scalp reduction surgery |journal=J Dermatol Surg Oncol |volume=14 |issue=3 |pages=309–15 |date=March 1988 |pmid=3279093 |doi= |url=}}</ref>
| |
| *So, folate supplementation should start at least 4 weeks before conception and it should continue until at least two months after conception.<ref name="pmid3279093">{{cite journal |vauthors=Alt TH |title=Aids to scalp reduction surgery |journal=J Dermatol Surg Oncol |volume=14 |issue=3 |pages=309–15 |date=March 1988 |pmid=3279093 |doi= |url=}}</ref>
| |
| *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.<ref name="pmid17209211">{{cite journal |vauthors=Pitkin RM |title=Folate and neural tube defects |journal=Am. J. Clin. Nutr. |volume=85 |issue=1 |pages=285S–288S |date=January 2007 |pmid=17209211 |doi=10.1093/ajcn/85.1.285S |url=}}</ref>
| |
|
| |
|
| ==References== | | ==[[Spina bifida natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| {{Reflist|2}}
| |
|
| |
|
| |
|
| {{WS}}
| | ==Diagnosis== |
| {{WH}}
| | [[Spina bifida diagnostic study of choice|Diagnostic study of choice]] | [[Spina bifida history and symptoms|History and Symptoms]] | [[Spina bifida physical examination|Physical Examination]] | [[Spina bifida laboratory findings|Laboratory Findings]] | [[Spina bifida electroencephalogram|Electroencephalogram]] | [[Spina bifida x ray|X-Ray Findings]] | [[Spina bifida echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Spina bifida CT scan|CT-Scan Findings]] | [[Spina bifida MRI|MRI Findings]] | [[Spina bifida other imaging findings|Other Imaging Findings]] | [[Spina bifida other diagnostic studies|Other Diagnostic Studies]] |
| | |
| | ==Treatment== |
| | [[Spina bifida medical therapy|Medical Therapy]] | [[Spina bifida surgery|Surgery]] | [[Spina bifida primary prevention|Primary Prevention]] |
| | |
| | ==Case Studies== |
| | [[Spina bifida case study one|Case #1]] |
| | |
| | [[Category: (name of the system)]] |