MyEClinic
MyEClinic
Health Dictionary Find a Doctor

Spina bifida

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: , Mohamadmostafa Jahansouz M.D.[2], Mohsen Basiri M.D.

Overview

Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Musadiq Ali M.B.B.S.[2], Mohamadmostafa Jahansouz M.D.[3]

Overview

Historical Perspective

Spina bifida has existed as long as the history of humanity. Evidence of children with characteristic features of spina bifida has been found in the archeological findings and a large number of anthropological figures from early civilizations. Spina bifida was first discovered by Hippocrates, (born c. 460 bce, island of Cos, Greece—died c. 375 bce, Larissa, Thessaly). The first definitive description of spina bifida was made by the Dutch clinician Pieter van Foreest (1522–1597) in the late 1500s. In 1614, Nicolaas Tulp (whose real name was Claes Piereszoon) was the first who coined the term spina bifida. Ligation or amputation of the dural sac was the surgical treatment of spina bifida for centuries. The outcome of this procedure was almost always fatal because of central spinal fluid leakage and infection or the secondary progressive untreated hydrocephalus. In 1918, Charles H. Frazier started better surgical concepts of repair of spina bifida, with multilayer closures using dura, fascia, muscles, and skin advocated. In 1967, a study by Sharrard, confirmed that better results were obtained by performing the surgery of spina bifida in the perinatal period. Now, the surgery of spina bifida in the perinatal period, is the preferred treatment.

Classification

Spina bifida may be classified according to the level of the lesion into 3 subtypes: Thoracic, lumbarand sacral. It also may be classified according to the tyoe of the vertebrate defect into 2 subtypes: Spina bifida occulta and spina ifida aperta. 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. In normal infants, the neural tube closes by the end of the 4 week of conception, but in patients with spina bifida, some parts of the neural tube fails to develop or close that causes defects in the spinal cord and in the vertebral bones. Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes: 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. Spina bifida may be caused by the increase of cerebrospinal fluid (CSF) volume in the central nervous system during the first weeks of embryogenesis. Venous insufficiency is the main cause of the increase of cerebrospinal fluid and it may be caused by any disease that reduces space for venous volume. The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of: Folic acid, glucose, retinoids, apoptosis, genes that regulate transcription in early embryogenesis, methionine Cycle genes, methylation genes, glucose Homeostasis genes, cell Recognition and Migration genes, DNA Repair genes and transcription Factors genes. Conditions associated with spina bifida include: Hydrocephalus, chiari II Malformation, paralysis, urination and deification incontinences, atex Allergy, learning Disabilities, sexual problems, emotional problems, obesity and vision problems.

Causes

There is no well known cause of spina bifida. It may result from a variety of occupational, environmental, genetic, and viral risk factors, such as a family history of neural tube defects and folate deficiency.

Differentiating spina bifida from Other Diseases

Spina bifida must be differentiated from other diseases that causes vertebral column defects, spinal deformity and neurologic abnormalities or gait abnormalities, such as: Terminal myelocystocele, spine segmental dysgenesis, Caudal regression syndrome (sacral agenesis), multiple vertebral segmentation disorder, VACTERL association, arnold-chiari malformation, syringomyelia, Scoliosis, and leg length discrepancy.

Epidemiology and Demographics

The incidence of spina bifida is approximately 3.5 per 10,000 live births per year in the U.S. The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births. Before 1960, the case-mortality rate of all forms of spina bifida was 90% to 88%. Now the mortality rate is approximately is 10.1%. The overall ventriculoperitoneal shunt requirement rate is 33.8%. The paraplegia rate is 30.7%. The neurogenic bladder rate is 51.6%. The infection rate is 6.4% after the surgical procedure. Spina bifida is more commonly observed among preterm newborns. Spina bifida usually affects individuals of the Malays and Chinese and Indians race. Female are more commonly affected by than male. The male\male+female ratio is approximately 42%.

Risk Factors

Risk factors in the development of spina bifida may be occupational, environmental, genetic, and viral. Common maternal nutrition risk factors in the development of spina bifida include: Alcohol use, caffeine use, low folate intake, low dietary quality, elevated glycaemic load or index, low methionine intake, low serum choline level, low serum vitamin B12 level, low vitamin C level, low zinc intake, smoking, hyperthermia, low socio-economic status, maternal infections and illnesses, pregestational insulin-dependent diabetes, pregestational obesity, psychosocial stress and valproic acid use. Environmental factors in the development of spina bifida include: Ambient air pollution, disinfectant by-products in drinking water, indoor air pollution, nitrate-related compounds, organic solvents, pesticides and polycyclic aromatic hydrocarbons.

Screening

First time in 1975, it was reported that AFP levels are often raised in maternal blood in association with neural tube defect of the fetus and it is an important advance in obstetric practice since it presents the possibility of a screening programme leading to early diagnosis and termination of these abnormal pregnancies. Screening for spina bifida by mother’s blood’s AFP [alpha‐fetoprotein] is recommended for all pregnant women with Triple Test. Triple test looks for three specific substances: AFP, hCG, and Estriol. Triple test is performed between the 15th and 20th week of pregnancy preferably in the 16th -18th week. All pregnant women should have triple test dureng pregnancy, but is is more important in pregnants with: Family history of birth defects, age of 35 years or older, Diabetes and use insulin, viral infection during pregnancy andexposure to high levels of radiation. In patients with high level of AFP, use of ultrasound and amniocentesis may be useful to diagnose open neural tube defects including spina bifida.

Natural History, Complications, and Prognosis

Prognosis of patients with spina bifida is generally poor. Early clinical features of spina bifida include: Weakness or paralysis in the legs, Urinary incontinence, Bowel incontinence, Sensation problems in the lower extremity, Motor problems in the lower extrimity and Hydrocephalus. If left untreated, 50% of patients with congenital anomalies, especially spina bifida may die soon after birth in the underdeveloped countries. Renal failure is the commonest cause of death in patients with spina bifida. Common complications of [disease name] include: Cardiac disease, Respiratory disease, Suicidality and Cancer.

Diagnosis

Diagnostic Study of Choice

Ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions. On two and tree-dimensional ultrasound, spina bifida is characterized by: Vertebral defect, splayed vertebral pedicles and disrupted vertebrae. The ultrasound must be performed when a positive alpha-fetoprotein is detected in the triple screening test between the 15th and 20th week of pregnancy to confirm the diagnosis.

History and Symptoms

Early symptoms of patients with spina bifida include: Weakness or paralysis in the legs, Urinary incontinence, Bowel incontinence, Sensation problems in the lower extremity, Motor problems in the lower extrimity, Headache, orthopedic abnormalities, difficulties with executive functions, academic skills problems, learning disability and allergy to latex.

Physical Examination

Most patients with spina bifida have normal vital signs. Skin examination of patients with spina bifida is usually remarkable for: Spinal area discoloration or birthmarks, protrusions in the lumbar spine, dimples in the lumbar spine and patch along the spine. HEENT examination of patients with spina bifida is usually remarkable for: Enlarging head, bulging fontanelle, enlarged scalp veins, Cranial bones suture diastasis and positive Macewen sign. Cardiovascular examination of patients with spina bifida is usually normal but congenital anomalies of the spine have been associated with malformations of the cardiovascular systems. Congenital anomalies of the spine also may be associated with malformations of the genitourinary system. Neuromuscular examination of patients with spina bifida may be remarkable for: Paralysis, sensation problems, Scoliosis, pressure ulcers, learning disabilities, Clonus, Hyperreflexia or hyporeflexia, positive (abnormal) Babinski unilaterally, muscle rigidity, muscle weakness unilaterally or bilaterally, abnormal gait and Dysmetria.

Laboratory Findings

There are no specific laboratory findings in the newborn associated with spina bifida. An elevated concentration of Maternal Serum Alpha-Fetoprotein may be predictive for contemporary detection of spina bifida. Screening for spina bifida by mother’s blood’s AFP [alpha‐fetoprotein] is recommended for all pregnant women with Triple Test. Triple test looks for three specific substances: AFP, hCG, and Estriol. Triple test is performed between the 15th and 20th week of pregnancy preferably in the 16th -18th week.

Electroencephalogram

Single Infantile electroencephalogram (EEG) recordings have limited prognostic value for infants born with spina bifida. Serial EEG recordings in combination with other clinical or neurophysiological investigations might ameliorate the contributing predictive value of neonatal EEG.

X-ray

Spina bifida occulta is found in up to 10% of people and usually occurs in the low spinal region and in most cases it is asymptomatic. An x-ray may be helpful in the diagnosis of cases of spina bifida who have not been diagnosed before. Findings on an x-ray suggestive of of spina bifida include: Failure of closure of the vertebral arch and scoliosis.

Echocardiography and Ultrasound

Compared with the general population, the prevalence of congenital heart disease in newborns with myelomeningocele is increased , however critical disease is uncommon. When the myelomeningocele is prenatally diagnosed, antenatal cardiac screening is complete and normal, and the newborn is clinically well, preoperative echocardiography is unnecessary. Ultrasound is the imaging modality of choice for characterisation of the open spina bifida spinal lesions. On two and tree-dimensional ultrasound, spina bifida is characterized by: Vertebral defect, splayed vertebral pedicles and disrupted vertebrae. The ultrasound must be performed when a positive alpha-fetoprotein is detected in the triple screening test between the 15th and 20th week of pregnancy to confirm the diagnosis.

CT scan

CT scan is not widely used for diagnosis of spina bifida but, it may be helpful in the diagnosis of hydrocephalus and during childhood, a patient with spina bifida will have multiple CT scans of the head.

MRI

Spinal and brain MRI may be helpful in the diagnosis of spina bifida. Findings on MRI diagnostic of spina bifida include:Herniation of a CSF filled sac through spina bifida, CSF attenuation lesion in conus medullaris and other parts of the CNS and short and thick filum terminale.

Treatment

Medical Therapy

Spina bifida requires prompt treatment. The mainstay of treatment for spina bifida is surgery.

Surgery

The management of open spina bifida is surgery within 48 h of birth. The defect in the spine is closed to minimize the risk of ascending infection that can result in meningitis. Prenatal surgery is the preferred treatment for spina bifida and it usually is done before the 26th week of pregnancy and it may prevent continuing damage and improve clinical outcome. Intrauterine repair of spina bifida confers multiple advantages to infants, including: Lower rates of shunt dependency, lower rates of hindbrain herniation and 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. The management of open spina bifida is surgery within 48 h of birth. The defect in the spine is closed to minimize the risk of ascending infection that can result in meningitis. Prenatal surgery is the preferred treatment for spina bifida and it usually is done before the 26th week of pregnancy and it may prevent continuing damage and improve clinical outcome. Intrauterine repair of spina bifida confers multiple advantages to infants, including: Lower rates of shunt dependency, lower rates of hindbrain herniation and 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.

Primary 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. Effective measures for the primary prevention of spina bifida include: Not drinking alcohol, not smoking, not taking drugs, taking Folic Acid and taking oral daily folate for all pregnant women. Neural tube closure is completed 28 days (four weeks) from conception, and the preventive effect of folic acid is not effective after that period. So, folate supplementation should start at least 4 weeks before conception and it should continue until at least two months after conception. 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.

References


Template:WikiDoc Sources

Historical Perspective

Historical Perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

Spina bifida has existed as long as history of humanity. Evidence of children with characteristic features of spina bifida has been found in the archeological findings and a large number of anthropological figures from early civilizations. Spina bifida was first discovered by Hippocrates, (born c. 460 bce, island of Cos, Greece—died c. 375 bce, Larissa, Thessaly). The first definitive description of spina bifida was made by the Dutch clinician Pieter van Foreest (1522–1597) in the late 1500s. In 1614, Nicolaas Tulp (whose real name was Claes Piereszoon) was the first who coined the term spina bifida. Ligation or amputation of the dural sac was the surgical treatment of spina bifida for centuries. The outcome of this procedure was almost always fatal because of central spinal fluid leakage and infection or the secondary progressive untreated hydrocephalus. In 1918, Charles H. Frazier started better surgical concepts of repair of spina bifida, with multilayer closures using dura, fascia, muscles, and skin advocated. In 1967, a study by Sharrard, confirmed that better results were obtained by performing the surgery of spina bifida in the perinatal period. Now, the surgery of spina bifida in the perinatal period, is the preferred treatment.

Historical Perspective

Discovery

  • Spina bifida has existed as long as history of humanity. Evidence of children with characteristic features of spina bifida has been found in the archeological findings and a large number of anthropological figures from early civilizations.[1]
  • Spina bifida was first discovered by Hippocrates, (born c. 460 bce, island of Cos, Greece—died c. 375 bce, Larissa, Thessaly).[1]
  • The first definitive description of spina bifida was made by the Dutch clinician Pieter van Foreest (1522–1597) in the late 1500s.
  • In 1614, Nicolaas Tulp (whose real name was Claes Piereszoon) was the first who coined the term spina bifida.[1]

Landmark Events in the Development of Treatment Strategies

  • Ligation or amputation of the dural sac was the surgical treatment of spina bifida for centuries. The outcome of this procedure was almost always fatal because of central spinal fluid leakage and infection or the secondary progressive untreated hydrocephalus.[1]
  • In 1918, Charles H. Frazier started better surgical concepts of repair of spina bifida, with multilayer closures using dura, fascia, muscles, and skin advocated.[1]
  • In 1967, a study by Sharrard, confirmed that better results were obtained by performing the surgery of spina bifida in the perinatal period.[1][2]
  • Now, the surgery of spina bifida in the perinatal period, is the preferred treatment.[1]

References

  1. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Liakakos D, Karpouzas J, Agathopoulos A. Missing or empty |title= (help)
  2. ↑ Sharrard WJ, Zachary RB, Lorber J (1967). “The long-term evaluation of a trial of immediate and delayed closure of spina bifida cystica”. Clin. Orthop. Relat. Res. 50: 197–201. PMID 5339471.

Template:WH Template:WS

Classification

Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

Spina bifida may be classified according to the level of the lesion into 3 subtypes: Thoracic, lumbarand sacral. It also may be classified according to the tyoe of the vertebrate defect into 2 subtypes: Spina bifida occulta and spina ifida aperta. 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.

Classification

  • Spina bifida may be classified according to the level of the lesion into 3 subtypes:[1][2]
  1. Thoracic
  2. lumbar
  3. Sacral
  • Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:[3][4]
    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.
    2. Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele:
      a. Meningocele is a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the vertebral column.
      b. 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.

References

  1. ↑ 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.
  2. ↑ 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. ↑ 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. ↑ Bannur BB, Purandare GM (February 1969). “Microbial production of L-lysine”. Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.

Template:WH Template:WS

Pathophysiology

Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: , Mohamadmostafa Jahansouz M.D.[2]

Overview

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. In normal infants, the neural tube closes by the end of the 4 week of conception, but in patients with spina bifida, some parts of the neural tube fails to develop or close that causes defects in the spinal cord and in the vertebral bones. Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes: 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. Spina bifida may be caused by the increase of cerebrospinal fluid (CSF) volume in the central nervous system during the first weeks of embryogenesis. Venous insufficiency is the main cause of the increase of cerebrospinal fluid and it may be caused by any disease that reduces space for venous volume. The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of: Folic acid, glucose, retinoids, apoptosis, genes that regulate transcription in early embryogenesis, methionine Cycle genes, methylation genes, glucose Homeostasis genes, cell Recognition and Migration genes, DNA Repair genes and transcription Factors genes. Conditions associated with spina bifida include: Hydrocephalus, chiari II Malformation, paralysis, urination and deification incontinences, atex Allergy, learning Disabilities, sexual problems, emotional problems, obesity and vision problems.

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]
  • In normal infants, the neural tube closes by the end of the 4 week of conception, but in patients with spina bifida, some parts of the neural tube fails to develop or close that causes defects in the spinal cord and in the vertebral bones.
  • Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:
    • 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]

Pathogenesis

Genetics

The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of:[3]

Other genes which may be contributed in the development of the spina bifida include:

Associated Conditions

Conditions associated with spina bifida include:[5][6][7][8][9][10]

References

  1. ↑ 1.0 1.1 1.2 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.
  2. ↑ 2.0 2.1 Williams H (April 2008). “A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida”. Cerebrospinal Fluid Res. 5: 7. doi:10.1186/1743-8454-5-7. PMC 2365936. PMID 18405364.
  3. ↑ Schmoldt A, Benthe HF, Haberland G, Holder AA, Wootton JC, Baron AJ, Chambers GK, Fincham JR, Alekseeva IG, Lapina GP, Tulovskaia ZD, Izmaĭlova VN (September 1975). “Digitoxin metabolism by rat liver microsomes”. Biochem. Pharmacol. 24 (17): 1639–41. PMC 5922622. PMID 10.
  4. ↑ Nordman H, Keskinen H, Alanko K (1988). “[The changing spectrum of occupational diseases of the lung]”. Duodecim (in Finnish). 104 (6): 473–9. PMID 3053142.
  5. ↑ Jenkinson MD, Campbell S, Hayhurst C, Clark S, Kandasamy J, Lee MK, Flynn A, Murphy P, Mallucci CL (June 2011). “Cognitive and functional outcome in spina bifida-Chiari II malformation”. Childs Nerv Syst. 27 (6): 967–74. doi:10.1007/s00381-010-1368-7. PMID 21193992.
  6. ↑ Behe MJ, Beasty AM (1991). “Co-polymer tracts in eukaryotic, prokaryotic, and organellar DNA”. DNA Seq. 1 (5): 291–302. PMID 1799681.
  7. ↑ Temin HM, Mizutani S (June 1970). “RNA-dependent DNA polymerase in virions of Rous sarcoma virus”. Nature. 226 (5252): 1211–3. PMID 4316301.
  8. ↑ Brochard C, Peyronnet B, Dariel A, Ménard H, Manunta A, Ropert A, Neunlist M, Bouguen G, Siproudhis L (November 2017). “Bowel Dysfunction Related to Spina Bifida: Keep It Simple”. Dis. Colon Rectum. 60 (11): 1209–1214. doi:10.1097/DCR.0000000000000892. PMID 28991086.
  9. ↑ Bernardini R, Novembre E, Lombardi E, Mezzetti P, Cianferoni A, Danti DA, Mercurella A, Vierucci A (May 1999). “Risk factors for latex allergy in patients with spina bifida and latex sensitization”. Clin. Exp. Allergy. 29 (5): 681–6. PMID 10231329.
  10. ↑ Gaston H (1991). “Ophthalmic complications of spina bifida and hydrocephalus”. Eye (Lond). 5 ( Pt 3): 279–90. doi:10.1038/eye.1991.44. PMID 1955048.

Template:WH Template:WS

Causes

Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

There is no well-known cause of spina bifida. It may result from a variety of occupational, environmental, genetic, and viral risk factors, such as a family history of neural tube defects and folate deficiency.

Causes

There is no well-known cause of spina bifida. It may result from a variety of occupational, environmental, genetic, and viral risk factors, such as a family history of neural tube defects and folate deficiency.

References

Template:WH Template:WS

Differentiating Spina bifida from other Diseases

Differentiating Spina bifida from other Diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

Spina bifida must be differentiated from other diseases that causes vertebral column defects, spinal deformity and neurologic abnormalities or gait abnormalities, such as: Terminal myelocystocele, spine segmental dysgenesis, Caudal regression syndrome (sacral agenesis), multiple vertebral segmentation disorder, VACTERL association, arnold-chiari malformation, syringomyelia, Scoliosis, and leg length discrepancy.

Differentiating spina bifida from other Diseases

Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Physical examination
Imaging
Vertebra column defect Protrusions, Dimples, Hair patch in the spine Motor and sensory abnormalities X-ray

(PA and Lateral view)

M.R.I.
Spina bifida ++ ++ +/- Incomplete union of the posterior elements of vertebral levels MRI –
Terminal myelocystocele +/- Protrusions and dimples +/- Incomplete union of the posterior elements of vertebral levels MRI
Spine segmental dysgenesis + – +/- Defects in the segments of the spine and spinal cord
  • Spinal cord at the level of the abnormality is thinned or even indiscernible
  • a bulky, low-lying cord segment may be present caudad to the focal abnormality in most cases
 MRI
  • The spinal column distal to the abnormality may be partially bifid
    Caudal regression syndrome (sacral agenesis) + +/- +/- Agenesis of the sacrum and lumbar spine
    • Lumbosacral vertebral body dysgenesis/hypogenesis
    • The level of atresia/dysgenesis is usually below L1 and often limited to sacrum
    		 MRI Associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…)
      VACTERL association + +/- +/- Vertebral body dysgenesis/hypogenesis – MRI, Ct scan, X ray VACTERL stands for:
      • Vertebral defects
      • Anal atresia
      • Cardiac defects
      • Tracheo-Esophageal fistula
      • Renal anomalies
      • Limb abnormalities
        Arnold-chiari malformation + + + None MRI
        Syringomyelia + + + MRI
        • Impaired ambulation and loss of penile erection when syrinx involves lumbosacral area
        Scoliosis +/- +/- +/-
        • Abnormality that may be causing the deformity
        • Spinal cord abnormalities may be seen
        		 MRI
        Leg length discrepancy – – – None Orthoroentogram
        • Repeat standing x-rays with the patient standing on a block to account for the discrepancy demonstrates correction of the postural abnormality.

        References

        1. ↑ Calloni SF, Huisman TA, Poretti A, Soares BP (2017). “Back pain and scoliosis in children: When to image, what to consider”. Neuroradiol J. 30 (5): 393–404. doi:10.1177/1971400917697503. PMC 5602330. PMID 28786774.
        2. ↑ Azar, F., Canale, S., Beaty, J. & Campbell, W. (2017). Campbell’s operative orthopaedics. Philadelphia, PA: Elsevier. Page: 1898-2028.
        3. ↑ 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.
        4. ↑ Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L (April 1988). “Segmental spinal dysgenesis”. Neurosurgery. 22 (4): 739–44. PMID 3374785.
        5. ↑ 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.
        6. ↑ 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)
        7. ↑ 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.

        Template:WH Template:WS

        Epidemiology and Demographics

        Epidemiology and Demographics

        Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

        Overview

        The incidence of spina bifida is approximately 3.5 per 10,000 live births per year in the U.S. The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births. Before 1960, the case-mortality rate of all forms of spina bifida was 90% to 88%. Now the mortality rate is approximately is 10.1%. The overall ventriculoperitoneal shunt requirement rate is 33.8%. The paraplegia rate is 30.7%. The neurogenic bladder rate is 51.6%. The infection rate is 6.4% after the surgical procedure. Spina bifida is more commonly observed among preterm newborns. Spina bifida usually affects individuals of the Malays and Chinese and Indians race. Female are more commonly affected by than male. The male\male+female ratio is approximately 42%.

        Epidemiology and Demographics

        Incidence

        The incidence of spina bifida is approximately 3.5 per 10,000 live births per year in the U.S.[1][2]

        Prevalence

        The prevalence of spina bifida is approximately 187 to 890 per 100,000 live births.[3]

        Case-fatality rate/Mortality rate

        • Before 1960, the case-mortality rate of all forms of spina bifida was 90% to 88%.[4]
        • In all patients with neural tube defects including spina bifida:[5]

        Age

        Spina bifida is more commonly observed among preterm newborns.[6]

        Race

        • Spina bifida usually affects individuals of the Malays and Chinese and Indians race.[3]

        Gender

        • Female are more commonly affected by than male. The male\male+female ratio is approximately 42%.[1]

        References

        1. ↑ 1.0 1.1 Bass SW, Triolo AJ, Coon JM (August 1972). “Effect of DDT on the toxicity and metabolism of parathion in mice”. Toxicol. Appl. Pharmacol. 22 (4): 684–93. PMID 5045772.
        2. ↑ Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Anderson P, Mason CA, Collins JS, Kirby RS, Correa A (December 2010). “Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006”. Birth Defects Res. Part A Clin. Mol. Teratol. 88 (12): 1008–16. doi:10.1002/bdra.20735. PMID 20878909.
        3. ↑ 3.0 3.1 Csaba G, Körösi J (1968). “A new antitumour agent: phenazathionium-mustard salt”. Neoplasma. 15 (4): 443–5. PMID 5684468.
        4. ↑ Lorber J (June 1971). “Results of treatment of myelomeningocele. An analysis of 524 unselected cases, with special reference to possible selection for treatment”. Dev Med Child Neurol. 13 (3): 279–303. PMID 4937369.
        5. ↑ Carreras y Matas M (1971). “[Strabismic sensorial perversions as a cause of secondary vertical deviation]”. Rev Esp Otoneurooftalmol Neurocir (in Spanish; Castilian). 29 (172): 361–3. PMID 5141554.
        6. ↑ Bannur BB, Purandare GM (February 1969). “Microbial production of L-lysine”. Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.

        Template:WH Template:WS

        Risk Factors

        Risk Factors

        Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

        Overview

        Risk factors in the development of spina bifida may be occupational, environmental, genetic, and viral. Common maternal nutrition risk factors in the development of spina bifida include: Alcohol use, caffeine use, low folate intake, low dietary quality, elevated glycaemic load or index, low methionine intake, low serum choline level, low serum vitamin B12 level, low vitamin C level, low zinc intake, smoking, hyperthermia, low socio-economic status, maternal infections and illnesses, pregestational insulin-dependent diabetes, pregestational obesity, psychosocial stress and valproic acid use. Environmental factors in the development of spina bifida include: Ambient air pollution, disinfectant by-products in drinking water, indoor air pollution, nitrate-related compounds, organic solvents, pesticides and polycyclic aromatic hydrocarbons.

        Risk Factors

        Common Risk Factors

        Common risk factors in the development of spina bifida may be occupational, environmental, genetic, and viral.

        Common risk factors in the development of spina bifida include:[1][2][3][4][5][6][7][8][9][10][11][12]

        1. Maternal nutrition factors:

        2. Environmental factors:

        References

        1. ↑ Quercia F, David A, Mainard R (1986). “[A new case of human hypodermyiasis with pleuro-pericardial manifestations]”. Pediatrie (in French). 41 (3): 243–7. PMID 3774437.
        2. ↑ 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.
        3. ↑ Takagi K, Tashiro T, Mashima Y, Yamamori H, Okui K, Ito I (November 1991). “[The effect of human growth hormone on protein metabolism in the surgically stressed state]”. Nihon Geka Gakkai Zasshi (in Japanese). 92 (11): 1545–51. PMID 1770928.
        4. ↑ “Isaac Harvey Flack”. Lancet. 2 (7464): 643–4. September 1966. PMID 4161975.
        5. ↑ Cheshire K, Engleman H, Deary I, Shapiro C, Douglas NJ (March 1992). “Factors impairing daytime performance in patients with sleep apnea/hypopnea syndrome”. Arch. Intern. Med. 152 (3): 538–41. PMID 1546916.
        6. ↑ Bogert JA (February 1988). “The American Academy of Pediatric Dentistry. Its scope and function”. N Y State Dent J. 54 (2): 36–7. PMID 2965325.
        7. ↑ Cremer R (July 2012). “[Hyperthermia in spina bifida patients treated with oxybutynin]”. Urologe A (in German). 51 (7): 991–5. doi:10.1007/s00120-012-2913-7. PMID 22695976.
        8. ↑ “Questions & answers about AIDS”. Pa Nurse. 47 (8): 8–10. August 1992. PMID 1508558.
        9. ↑ Forestier F (1987). “Some aspects of fetal biology”. Fetal Ther. 2 (4): 181–7. PMID 3509193.
        10. ↑ Dosa NP, Foley JT, Eckrich M, Woodall-Ruff D, Liptak GS (2009). “Obesity across the lifespan among persons with spina bifida”. Disabil Rehabil. 31 (11): 914–20. doi:10.1080/09638280802356476. PMID 19037774.
        11. ↑ Franken C, Meijer CJ, Dijkman JH (April 1989). “Tissue distribution of antileukoprotease and lysozyme in humans”. J. Histochem. Cytochem. 37 (4): 493–8. doi:10.1177/37.4.2926127. PMID 2926127.
        12. ↑ Sabekiia ON, Sinitsyn VE, Belenkov I, Mareev V (September 1991). “[MR-tomography of the heart in cardiomegaly caused by dilated cardiomyopathy and ischemic heart disease]”. Kardiologiia (in Russian). 31 (9): 9–11. PMID 1836511. Vancouver style error: initials (help)
        13. ↑ Sultan Y (1987). “Epidemiology of HIV infection in multitransfused hemophilic patients in France. French Study Group in Hemophilia”. Nouv Rev Fr Hematol. 29 (4): 211–4. PMID 3697063.
        14. ↑ Gottesmann C, Gandolfo G, Zernicki B (June 1989). “Hippocampal theta activity in the acute precollicular rat”. Brain Res. Bull. 22 (6): 959–62. PMID 2790500.
        15. ↑ Bannur BB, Purandare GM (February 1969). “Microbial production of L-lysine”. Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.
        16. ↑ Lindeman RD (1992). “Changes in renal function with aging. Implications for treatment”. Drugs Aging. 2 (5): 423–31. doi:10.2165/00002512-199202050-00006. PMID 1392223.
        17. ↑ Kukumberg P (May 1986). “[Criteria for the EMG diagnosis of tetanic syndromes]”. Bratisl Lek Listy (in Slovak). 85 (5): 599–603. PMID 3719396.
        18. ↑ Baran VM, Iusipova NA, Balesnaia AN (July 1973). “[Glycosaminoglycans and glycoproteins of the blood serum in viral hepatitis and jaundice of diverse etiology]”. Ter. Arkh. (in Russian). 45 (7): 35–8. PMID 4271111.
        19. ↑ Baur HH (May 1972). “[Practical and surgical problems of the ileal conduit]”. Urologe A (in German). 11 (3): 134–40. PMID 5048886.

        Template:WH Template:WS

        Screening

        Screening

        Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

        Overview

        First time in 1975, it was reported that AFP levels are often raised in maternal blood in association with neural tube defect of the fetus and it is an important advance in obstetric practice since it presents the possibility of a screening programme leading to early diagnosis and termination of these abnormal pregnancies. Screening for spina bifida by mother’s blood’s AFP [alpha‐fetoprotein] is recommended for all pregnant women with Triple Test. Triple test looks for three specific substances: AFP, hCG, and Estriol. Triple test is performed between the 15th and 20th week of pregnancy preferably in the 16th -18th week. All pregnant women should have triple test dureng pregnancy, but is is more important in pregnants with: Family history of birth defects, age of 35 years or older, Diabetes and use insulin, viral infection during pregnancy andexposure to high levels of radiation. In patients with high level of AFP, use of ultrasound and amniocentesis may be useful to diagnose open neural tube defects including spina bifida.

        Screening

        • First time in 1975, it was reported that AFP levels are often raised in maternal blood in association with neural tube defect of the fetus and it is an important advance in obstetric practice since it presents the possibility of a screening programme leading to early diagnosis and termination of these abnormal pregnancies.[1][2]
        • Screening for spina bifida by mother’s blood’s AFP [alpha‐fetoprotein] is recommended for all pregnant women with Triple Test.[3][4]
        • Triple test looks for three specific substances: AFP, hCG, and Estriol.[3][2]
        • Triple test is performed between the 15th and 20th week of pregnancy preferably in the 16th -18th week.[3][2][4][5]

        References

        1. ↑ McFarlane JK (December 1972). “The nature of nursing and the place of research. 1”. World Ir Nurs. 1 (12): 251 passim. PMID 4486472.
        2. ↑ 2.0 2.1 2.2 2.3 2.4 Hu Z, Liu X, Li L, Jia C, Li D, Liu R (October 2014). “[Predictive value of abnormal second-trimester maternal serum triple screening markers for adverse pregnancy outcomes]”. Zhonghua Fu Chan Ke Za Zhi (in Chinese). 49 (10): 749–53. PMID 25537246.
        3. ↑ 3.0 3.1 3.2 3.3 Péron FG, McCarthy JL, Guerra F (April 1966). “Further studies on corticosteroidogenesis. IV. Inhibition of utilization of biological substrates for corticoid synthesis by high calcium concentrations. Possible role of transhydrogenase in corticosteroidogenesis”. Biochim. Biophys. Acta. 117 (2): 450–69. PMID 4381295.
        4. ↑ 4.0 4.1 4.2 Wyshak G, Haase JV (November 1976). “Profile of dental hygienists”. Dent Hyg (Chic). 50 (11): 497–501. PMID 1071059.
        5. ↑ 5.0 5.1 Shcherbukhin VV, Khramtsov AV, Zemskov VM, Filatov AV (April 1987). “[Poisson equalization of multicomponent cytofluorograms]”. Tsitologiia (in Russian). 29 (4): 497–502. PMID 3111043.

        Template:WH Template:WS

        Natural History, Complications and Prognosis

        Natural History, Complications and Prognosis

        Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

        Overview

        Prognosis of patients with spina bifida is generally poor. Early clinical features of spina bifida include: Weakness or paralysis in the legs, Urinary incontinence, Bowel incontinence, Sensation problems in the lower extremity, Motor problems in the lower extrimity and Hydrocephalus. If left untreated, 50% of patients with congenital anomalies, especially spina bifida may die soon after birth in the underdeveloped countries. Renal failure is the commonest cause of death in patients with spina bifida. Common complications of [disease name] include: Cardiac disease, Respiratory disease, Suicidality and Cancer.

        Natural History, Complications and Prognosis

        References

        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.
        2. ↑ Bannur BB, Purandare GM (February 1969). “Microbial production of L-lysine”. Hindustan Antibiot Bull. 11 (3): 191–205. PMID 4898641.
        3. ↑ 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.
        4. ↑ 4.0 4.1 4.2 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.

        Template:WH Template:WS

        Diagnosis

        Diagnosis

        Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electroencephalogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies

        Treatment

        Treatment

        Medical Therapy | Surgery | Primary Prevention

        Case Studies

        Case Studies

        Case #1

        Looking for the patient version?

        Back to the patient-friendly article

        Imprint

        Privacy Policy

        Terms and Conditions

        © 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH