Neural Tube Defects Clinical Presentation
If a neural tube defect become apparent on delivery, what are the clinical presentations?
@saidi NTDs are commonly discovered during prenatal screening and are often associated with poor prenatal care.
Most open NTDs are readily apparent at the time of birth; closed NTDs have a variable presentation.
The most common presentation of a closed NTD is an obvious abnormality along the spine such as a fluid-filled cystic mass, area of hypopigmentation or hyperpigmentation, cutis aplasia, congenital dermal sinus, capillary telangiectasia/hemangioma, hairy patch (hypertrichosis), skin appendages, or asymmetrical gluteal cleft.
Common to all these patients is a fully epithelialized lesion and no visible neural tissue.
A closed NTD can present without a cutaneous marker.
The second most common reason for seeking medical attention is asymmetry of the legs and/or feet. One calf can be thinner, with a smaller foot on the same side, higher arch, and hammering or clawing of the toes.
Other children exhibit progressive spinal deformities such as scoliosis.
Some children present with a picture of progressive neurological deficits that may include weakness in one distal lower extremity, sensory loss in the same distribution, and bladder or bowel dysfunction.
Low back pain also can occur, sometimes without neurological deficit. Pain is more common in older children or adolescents.
Adults can present with the sudden onset of pain, motor and sensory loss, and bladder dysfunction after an acute trauma (e.g., fall, motor vehicle accident, placement in lithotomy position). The reason for such presentation may be related to tethering of the cord (the distal end of the spinal cord is fixed in position).
Mechanical forces associated with motion may produce compression and/or vascular insufficiency.
A patient with a closed NTD such as a congenital dermal sinus with an intraspinal dermoid cyst or a neuro-enteric cyst can present with symptoms of spinal cord compression due to enlargement of the mass.
A patient with a dermal sinus also can present with bacterial meningitis or spinal abscess.
Neuro-enteric or dermoid cysts also can present with repeated bouts of aseptic meningitis due to leaking of the contents into the spinal subarachnoid space.
Functional complications most often occur during early years of life, but can manifest at any age. The prevalence of medical comorbidities depends on the level and severity of the lesion. However, urologic abnormalities (i.e., UTI and nephrolithiasis) are the most common issues among adults with NTDs. Scoliosis, pain, epilepsy, and pressure ulcers are also often reported in adult patients with myelomeningocele.