ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (3)
Spina bifida in Adult
Print Captions OFF
Other Resources UpToDate PubMed

Spina bifida in Adult

Print Images (3)
Contributors: Jennifer Vermilion MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Neural tube defects (NTDs) arise from abnormalities in the formation of the structures along the craniospinal axis that occur due to a complex interaction of genetic and environmental factors. Risk factors for NTDs include women with a previous NTD-affected pregnancy, maternal pregestational diabetes, hyperthermia, specific anticonvulsant drugs such as valproic acid, and folic acid deficiency; a potential association between dolutegravir (an antiretroviral) exposure at conception and the development of NTDs has been reported.

Although the underlying pathophysiology is not completely understood, folic acid plays an important role in the prevention of NTDs such as spina bifida. Taking folic acid supplementation during childbearing years and mandating the fortification of food with folic acid has significantly reduced the risk of having an NTD-affected pregnancy.

NTDs are classified as open (neural tissue exposed; anencephaly, myelomeningocele, meningocele) or closed (skin covering the defect; spina bifida occulta). Spina bifida occulta, also known as closed spinal dysraphism, is the least severe of the NTDs and results from the incomplete fusion of the posterior vertebral bodies, typically in the lumbosacral spine. Here we will focus on spina bifida occulta.

Spina bifida occulta may be suspected due to the presence of cutaneous lesions such as a dermal sinus tract, sacral dimple, hypertrichosis, hemangiomas, or a subcutaneous lipoma. Cases of spina bifida occulta can present at any age, and the severity of symptoms varies from asymptomatic to severe neurologic impairment due to tethered cord syndrome, secondary to abnormal tension on the spinal cord. Signs and symptoms of tethered cord syndrome secondary to spina bifida occulta include gait changes, bowel / bladder dysfunction, leg and back pain, and orthopedic deformities.

Codes

ICD10CM:
Q05.9 – Spina bifida, unspecified

SNOMEDCT:
67531005 – Spina bifida

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 06/20/2019
Last Updated: 08/30/2019
Copyright © 2019 VisualDx®. All rights reserved.
Spina bifida in Adult
Captions OFF Print 3 Images
View all Images (3)
(with subscription)
Spina bifida : Hypertrichosis, Low back pain, Urinary incontinence
Imaging Studies image of Spina bifida
Axial MRI demonstrating bony defect in vertebral arch.
Copyright © 2019 VisualDx®. All rights reserved.