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| __NOTOC__ | | __NOTOC__ |
| | {{Spina bifida}} |
| | {{CMG}}; {{AE}}, {{MMJ}}, {{M.B}} |
| | ==[[Spina bifida overview|Overview]]== |
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| {{CMG}}{{AE}}{{MMJ}}
| | ==[[Spina bifida historical perspective|Historical Perspective]]== |
| ==Classification== | |
| *Spina bifida may be classified according to the level of the lesion into 3 subtypes:<ref name="pmid2782071">{{cite journal |vauthors=Lannering B, Albertsson-Wikland K |title=Improved growth response to GH treatment in irradiated children |journal=Acta Paediatr Scand |volume=78 |issue=4 |pages=562–7 |date=July 1989 |pmid=2782071 |doi= |url=}}</ref><ref name="pmid7814582">{{cite journal |vauthors=Swank M, Dias LS |title=Walking ability in spina bifida patients: a model for predicting future ambulatory status based on sitting balance and motor level |journal=J Pediatr Orthop |volume=14 |issue=6 |pages=715–8 |date=1994 |pmid=7814582 |doi= |url=}}</ref>
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| :#[[Thoracic]], high-[[lumbar]]
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| :#*Lack of [[Quadriceps muscle|quadriceps]] function
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| :#Low-[[lumbar]]
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| :#*Lack [[Gluteus medius muscle|gluteus medius]] and [[Gluteus maximus muscle|maximus]] function
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| :#*Retain [[Quadriceps muscle|quadriceps]] and [[Hamstrings|medial hamstring]] function
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| :#[[Sacral]]
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| :#*Lack [[Gastrocnemius muscle|gastrocnemius-]][[Soleus muscle|soleus]] function in high [[sacral]] lesions
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| :#*Retain [[Gastrocnemius muscle|gastrocnemius]]-[[soleus]] function in low [[Sacrum|sacral]] lesions
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| :* Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:<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><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>
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| :*# [[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]].
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| :*# Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.
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| :* Meningocele is a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the [[vertebral column]].
| | ==[[Spina bifida classification|Classification]]== |
| :* Myelomeningocele is the most severe form of spina bifida. It happens when both the meninges and the bottom end of the spinal cord push through the hole in the spine, forming a large fluid-filled sac that bulges out of a patients back.
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| ==Pathophysiology== | | ==[[Spina bifida pathophysiology|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>
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| * [[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>
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| * 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>
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| ==Differentiating spina bifida from other Diseases==
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| *Spina bifida must be differentiated from other diseases that cause [[vertebral column]] defects, such as:
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| :*Terminal myelocystocele<ref name="pmid9514174">{{cite journal |vauthors=Meyer SH, Morris GF, Pretorius DH, James HE |title=Terminal myelocystocele: important differential diagnosis in the prenatal assessment of spina bifida |journal=J Ultrasound Med |volume=17 |issue=3 |pages=193–7 |date=March 1998 |pmid=9514174 |doi= |url=}}</ref>
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| :*Spine segmental [[dysgenesis]]<ref name="pmid3374785">{{cite journal |vauthors=Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L |title=Segmental spinal dysgenesis |journal=Neurosurgery |volume=22 |issue=4 |pages=739–44 |date=April 1988 |pmid=3374785 |doi= |url=}}</ref>
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| :*[[Caudal regression syndrome]] ([[sacral agenesis]])<ref name="pmid4925436">{{cite journal |vauthors=Kremser E, Mitchell GM |title=Treatment of primary dysmenorrhea with a combined type oral contraceptive--a double blind study |journal=J Am Coll Health Assoc |volume=19 |issue=3 |pages=195–6 |date=February 1971 |pmid=4925436 |doi= |url=}}</ref>
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| :*Multiple [[vertebral]] segmentation disorder<ref name="pmid5991006">{{cite journal |vauthors=Benedetti-Valentino F J, De Feo V, Pistolese GR, Fiorani P |title=[Nephroptosis and fibromuscular hyperplasia of the tunica media of the renal arteries] |language=Italian |journal=Minerva Cardioangiol |volume=14 |issue=9 |pages=528–34 |date=September 1966 |pmid=5991006 |doi= |url=}}</ref>
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| :*[[VACTERL]]<ref name="pmid3169446">{{cite journal |vauthors=Naccarato R, Sturniolo GC, Martin A, D'Odorico A, Montino C |title=[Irritable bowel syndrome] |language=Italian |journal=G Clin Med |volume=69 |issue=3 |pages=163–8 |date=March 1988 |pmid=3169446 |doi= |url=}}</ref>
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| ==Epidemiology and Demographics== | | ==[[Spina bifida causes|Causes]]== |
| * The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births.<ref name="pmid5684468">{{cite journal |vauthors=Csaba G, Körösi J |title=A new antitumour agent: phenazathionium-mustard salt |journal=Neoplasma |volume=15 |issue=4 |pages=443–5 |date=1968 |pmid=5684468 |doi= |url=}}</ref>
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| ===Age===
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| *Spina bifida is more commonly observed among preterm newborns.<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>
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| ===Gender===
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| *Female newborns are more commonly affected with spina bifida than male newborns.<ref name="pmid3738390">{{cite journal |vauthors=Doutre MS, Beylot C, Busquet M, Barberis C, Fauchier JM, Lecastereyres D, Beylot J |title=[Familial scleroderma of the Thibierge-Weissenbach type] |language=French |journal=Rev Rhum Mal Osteoartic |volume=53 |issue=4 |pages=290–1 |date=April 1986 |pmid=3738390 |doi= |url=}}</ref>
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| ===Race===
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| *Spina bifida usually affects individuals of the Malays and Chinese and Indians race.<ref name="pmid5684468">{{cite journal |vauthors=Csaba G, Körösi J |title=A new antitumour agent: phenazathionium-mustard salt |journal=Neoplasma |volume=15 |issue=4 |pages=443–5 |date=1968 |pmid=5684468 |doi= |url=}}</ref>
| | ==[[Spina bifida differential diagnosis|Differentiating Spina bifida from other Diseases]]== |
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| ==Risk Factors== | | ==[[Spina bifida epidemiology and demographics|Epidemiology and Demographics]]== |
| *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>
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| == Natural History, Complications and Prognosis== | | ==[[Spina bifida risk factors|Risk Factors]]== |
| *Prognosis of patients with spina bifida is generally poor.
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| *Early clinical features include:<ref name="pmid10350196">{{cite journal |vauthors=Soonawala N, Overweg-Plandsoen WC, Brouwer OF |title=Early clinical signs and symptoms in occult spinal dysraphism: a retrospective case study of 47 patients |journal=Clin Neurol Neurosurg |volume=101 |issue=1 |pages=11–4 |date=March 1999 |pmid=10350196 |doi= |url=}}</ref><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="pmid2647936">{{cite journal |vauthors=Horton D, Barnes P, Pendleton BD, Pollay M |title=Spina bifida occulta: early clinical and radiographic diagnosis |journal=J Okla State Med Assoc |volume=82 |issue=1 |pages=15–9 |date=January 1989 |pmid=2647936 |doi= |url=}}</ref>
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| **Weakness or [[paralysis]] in the legs.
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| **[[Urinary incontinence]]
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| **[[Bowel]] incontinence
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| **[[Sensation]] problems in the [[lower extremity]]
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| **[[Motor]] problems in the [[lower extrimity]]
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| **[[Hydrocephalus]]
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| *If left untreated, 50% of patients with congenital anomalies, especially spina bifida may die soon after birth in the underdeveloped countries.<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| *[[Renal failure]] is the commonest cause of death in patients with spina bifida.<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| *Common complications of [disease name] include:<ref name="pmid2441590">{{cite journal |vauthors=Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C |title=Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development |journal=Am. J. Clin. Nutr. |volume=46 |issue=2 |pages=360–8 |date=August 1987 |pmid=2441590 |doi=10.1093/ajcn/46.2.360 |url=}}</ref>
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| **[[Cardiac]] disease
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| **[[Respiratory disease]]
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| **[[Suicidality]]
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| **[[Cancer]]
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| == Diagnosis == | | ==[[Spina bifida screening|Screening]]== |
| === Symptoms ===
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| *Early symptoms of spina bifida include:<ref name="pmid10350196" /><ref name="pmid4898641" /><ref name="pmid2647936" />
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| **Weakness or [[paralysis]] in the legs.
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| **[[Urinary incontinence]]
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| **[[Bowel]] incontinence
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| **[[Sensation]] problems in the [[lower extremity]]
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| **[[Motor]] problems in the [[lower extrimity]]
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| **[[Headache]]
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| === Physical examination ===
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| *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>
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| :* Spinal area discoloration or [[birthmarks]] may be the only sign in the newborns with spina bifida occulta
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| :* Protrusions in the [[lumbar spine]]
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| :* Dimples in the [[lumbar spine]]
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| :* Hair patch along the spine
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| :*[[Hydrocephalus]] signs may be present:
| | ==[[Spina bifida natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| :**Enlarging head
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| :**Bulging [[fontanelle]]
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| :**Enlarged [[scalp veins]]
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| :**[[Cranial bones]] [[suture]] [[diastasis]]
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| :**Positive [[Macewen's sign|Macewen sign]]
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| :*[[Paralysis]]
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| :*Sensation problems
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| :*[[Scoliosis]]
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| :*Pressure [[Ulcer|ulcers]]
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| :*Learning disabilities
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| === Laboratory Findings === | | ==Diagnosis== |
| *There are no specific laboratory findings associated with spina bifida.
| | [[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]] |
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| *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>
| | ==Treatment== |
| | [[Spina bifida medical therapy|Medical Therapy]] | [[Spina bifida surgery|Surgery]] | [[Spina bifida primary prevention|Primary Prevention]] |
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| ===Imaging Findings=== | | ==Case Studies== |
| *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>
| | [[Spina bifida case study one|Case #1]] |
| *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>
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| *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>
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| **[[Vertebral anomalies|Vertebral defect]]
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| **Splayed [[Vertebral|vertebral pedicles]]
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| **Disrupted [[vertebrae]]
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| == Treatment ==
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| === Surgery ===
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| *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>
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| *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>
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| **Lower rates of [[shunt]] dependency
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| **Lower rates of [[hindbrain]] [[herniation]]
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| **Better motor and disability functional outcomes
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| *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]].
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| === Prevention ===
| | [[Category: (name of the system)]] |
| *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>
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| *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>
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| **Not drinking alcohol
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| **Not smoking
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| **Not taking drugs
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| **Taking [[Folic Acid]]
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| *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>
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| *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>
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| ==References==
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| {{Reflist|2}}
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| [[Category:Pick One of 28 Approved]]
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| {{WS}}
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| {{WH}}
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