Spina bifida: Difference between revisions
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*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> | *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> | *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 defect | **[[Vertebral anomalies|Vertebral defect]] | ||
**Splayed vertebral pedicles | **Splayed [[Vertebral|vertebral pedicles]] | ||
**Disrupted | **Disrupted [[vertebrae]] | ||
== Treatment == | == Treatment == | ||
=== Medical Therapy === | === Medical Therapy === | ||
Revision as of 18:40, 9 January 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Classification
- Thoracic, high-lumbar
- Lack of quadriceps function
- Low-lumbar
- Lack gluteus medius and maximus function
- Retain quadriceps and medial hamstring function
- Sacral
- Lack gastrocnemius-soleus function in high sacral lesions
- Retain gastrocnemius-soleus function in low sacral lesions
- Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:[3][4]
- 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.
- Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.
- Thoracic, high-lumbar
- Meningocele is a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the vertebral column.
- 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.
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.[3]
- 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.[3]
- Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.[3]
Differentiating spina bifida from other Diseases
- Spina bifida must be differentiated from other diseases that cause vertebral column defects, such as:
- Terminal myelocystocele[5]
- Spine segmental dysgenesis[6]
- Caudal regression syndrome (sacral agenesis)[7]
- Multiple vertebral segmentation disorder[8]
- VACTERL[9]
Epidemiology and Demographics
- The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births.[10]
Age
- Spina bifida is more commonly observed among preterm newborns.[4]
Gender
- Female newborns are more commonly affected with spina bifida than male newborns.[11]
Race
- Spina bifida usually affects individuals of the Malays and Chinese and Indians race.[10]
Risk Factors
- Common risk factors in the development of spina bifida are disturbed folate/homocysteine metabolism[12][13], presence of spina bifida patients within third-degree relatives[13], taking anti-epileptic drugs without folic acid[13], and low birth weight in the newborns ≤ 2500 g.[13]
Natural History, Complications and Prognosis
- Prognosis of patients with spina bifida is generally poor.
- Early clinical features include:[14][4][15]
- Weakness or paralysis in the legs.
- Urinary incontinence
- Bowel incontinence
- Sensation problems in the lower extremity
- Motor problems in the lower extrimity
- Hydrocephalus
- If left untreated, 50% of patients with congenital anomalies, especially spina bifida may die soon after birth in the underdeveloped countries.[16]
- Renal failure is the commonest cause of death in patients with spina bifida.[16]
- Common complications of [disease name] include:[16]
- Cardiac disease
- Respiratory disease
- Suicidality
- Cancer
Diagnosis
Symptoms
- Early symptoms of spina bifida include:[14][4][15]
- Weakness or paralysis in the legs.
- Urinary incontinence
- Bowel incontinence
- Sensation problems in the lower extremity
- Motor problems in the lower extrimity
- Headache
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.[17]
Imaging Findings
- Three-dimensional ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions.[18]
- Ultrasound also is the gold standard diagnostic tool for spina bifida.[18]
- On Three-dimensional ultrasound, spina bifida is characterized by:[19]
- Vertebral defect
- Splayed vertebral pedicles
- Disrupted vertebrae
Treatment
Medical Therapy
- There is no treatment for [disease name]; the mainstay of therapy is supportive care.
- The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
- [Medical therapy 1] acts by [mechanism of action 1].
- Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].
Surgery
- Surgery is the mainstay of therapy for [disease name].
- [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
- [Surgical procedure] can only be performed for patients with [disease stage] [disease name].
Prevention
- There are no primary preventive measures available for [disease name].
- Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
- Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].
References
- ↑ Lannering B, Albertsson-Wikland K (July 1989). "Improved growth response to GH treatment in irradiated children". Acta Paediatr Scand. 78 (4): 562–7. PMID 2782071.
- ↑ Swank M, Dias LS (1994). "Walking ability in spina bifida patients: a model for predicting future ambulatory status based on sitting balance and motor level". J Pediatr Orthop. 14 (6): 715–8. PMID 7814582.
- ↑ 3.0 3.1 3.2 3.3 3.4 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.
- ↑ 4.0 4.1 4.2 4.3 4.4 Bannur BB, Purandare GM (February 1969). "Microbial production of L-lysine". Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.
- ↑ Meyer SH, Morris GF, Pretorius DH, James HE (March 1998). "Terminal myelocystocele: important differential diagnosis in the prenatal assessment of spina bifida". J Ultrasound Med. 17 (3): 193–7. PMID 9514174.
- ↑ Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L (April 1988). "Segmental spinal dysgenesis". Neurosurgery. 22 (4): 739–44. PMID 3374785.
- ↑ Kremser E, Mitchell GM (February 1971). "Treatment of primary dysmenorrhea with a combined type oral contraceptive--a double blind study". J Am Coll Health Assoc. 19 (3): 195–6. PMID 4925436.
- ↑ Benedetti-Valentino F J, De Feo V, Pistolese GR, Fiorani P (September 1966). "[Nephroptosis and fibromuscular hyperplasia of the tunica media of the renal arteries]". Minerva Cardioangiol (in Italian). 14 (9): 528–34. PMID 5991006. Vancouver style error: name (help)
- ↑ Naccarato R, Sturniolo GC, Martin A, D'Odorico A, Montino C (March 1988). "[Irritable bowel syndrome]". G Clin Med (in Italian). 69 (3): 163–8. PMID 3169446.
- ↑ 10.0 10.1 Csaba G, Körösi J (1968). "A new antitumour agent: phenazathionium-mustard salt". Neoplasma. 15 (4): 443–5. PMID 5684468.
- ↑ Doutre MS, Beylot C, Busquet M, Barberis C, Fauchier JM, Lecastereyres D, Beylot J (April 1986). "[Familial scleroderma of the Thibierge-Weissenbach type]". Rev Rhum Mal Osteoartic (in French). 53 (4): 290–1. PMID 3738390.
- ↑ 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.
- ↑ 13.0 13.1 13.2 13.3 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.
- ↑ 14.0 14.1 Soonawala N, Overweg-Plandsoen WC, Brouwer OF (March 1999). "Early clinical signs and symptoms in occult spinal dysraphism: a retrospective case study of 47 patients". Clin Neurol Neurosurg. 101 (1): 11–4. PMID 10350196.
- ↑ 15.0 15.1 Horton D, Barnes P, Pendleton BD, Pollay M (January 1989). "Spina bifida occulta: early clinical and radiographic diagnosis". J Okla State Med Assoc. 82 (1): 15–9. PMID 2647936.
- ↑ 16.0 16.1 16.2 Kozlowski BW, Taylor ML, Baer MT, Blyler EM, Trahms C (August 1987). "Anticonvulsant medication use and circulating levels of total thyroxine, retinol binding protein, and vitamin A in children with delayed cognitive development". Am. J. Clin. Nutr. 46 (2): 360–8. doi:10.1093/ajcn/46.2.360. PMID 2441590.
- ↑ 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.
- ↑ 18.0 18.1 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.