Neurologic

Clinical presentation ( Table 137.1 ) will vary based on the extent of involvement of sensory, motor, and autonomic nerves. Dysphagia, aspiration, stridor, vocal cord paralysis, nystagmus, spasticity, bradycardia, and sleep apnea are all symptoms of brainstem dysfunction . A high index of suspicion is sometimes necessary for early assessment and management, since severe apnea may lead to respiratory arrest, which could in turn result in death.

The symptoms of hydrocephalus resulting from an NTD will vary by age. In an infant, symptoms include lethargy, poor appetite, vomiting, accelerated head enlargement, a bulging anterior fontanelle, dilated scalp veins, spasticity, and clonus. In an older child, headache is a prominent symptom. Other symptoms may include decline in school performance, ataxia, and papilledema. Mechanical obstruction of a ventriculoperitoneal shunt (VPS) presents acutely with signs of hydrocephalus. CNS infections are associated with fever, headache, and meningismus. Adults with VPS can develop chronic idiopathic headaches.

Tethered cord syndrome can result in progressive scoliosis, decline in lower extremity strength, rapidly progressive lower limb contractures, spasticity, a change in gait or urinary symptoms, low back pain, and skin ulcers. Patients with spina bifida occulta may present to providers with tethered cord syndrome symptoms beginning during adulthood.

Syringohydromyelia is common in cervical level lesions. It is a fluid-filled cavity in the center of the spinal cord. It may present with sensory deficits, progressive weakness worse in the upper limbs, spasticity and hyperreflexia, intrinsic hand atrophy, and increased scoliosis.

A noted increase in spasticity can be caused by hydrocephalus, syringomyelia, tethered cord, a urinary tract infection, and decubitus ulcers. Seizures may be common in children with MMC with VPS.

Orthopedic

Symptoms from progressive scoliosis can include pain, fatigue, and severe disability interfering with sitting balance and ambulation. Hip deformities, including contractures and dislocations, may result in popping sensation, leg length discrepancy, and pain. Pelvic obliquity can lead to progression of scoliotic curve and difficulties with sitting and positioning. Presence of knee flexion or extension contractures may interfere with functional tasks such as transfers. Foot deformities are common and may depend on which spinal segments are affected. Pathologic fractures in the lower limbs may present with localized erythema and swelling. Most occur in the distal femur, especially in higher MMC level and non-ambulatory patients. Musculoskeletal pain in the shoulder area may be extremely common in wheelchair users, especially in adult patients.

Urinary

Patients may present with urinary retention or incontinence from neurogenic bladder. Urinary tract infections can be associated with fever, changes in urinary control like new onset leakage between catheterizations, and change in urine quality (color, foul odor, or sediment).

Gastrointestinal

Stool incontinence or constipation are symptoms of neurogenic bowel. Chronic constipation may lead to incontinence due to overflow.

Reproductive

Many men with MMC are infertile due to erectile dysfunction, ejaculatory dysfunction, or azoospermia. Fertility among women with MMC is thought to be normal. Change in urologic status (i.e., new onset incontinence) or back pain may be a presenting sign of pregnancy or labor.

Pulmonary

Brainstem dysfunction associated with Chiari II malformation can lead to hypoventilation, apnea, and respiratory failure. Restrictive lung disease can be seen with severe progression of neuromuscular scoliosis. In thoracic level MMC, partial innervations of abdominal and intercostal musculature may result in respiratory insufficiency from restriction in chest wall expansion. Similar symptoms may be reported with severe neuromuscular scoliosis progression.

Cardiovascular

Lower limb swelling may be due to positional edema or lymphedema. There is evidence showing increased prevalence of the latter. Hypertension may be prevalent. Cardiovascular risks, insulin resistance, sedentary lifestyle, and obesity may lead to early-onset arteriosclerotic disease.

Allergy and Immunology

There is an increased prevalence of latex allergy. Careful precautions should be taken, as a severe reaction can include angioedema and anaphylaxis. This can be life threatening. Precautions to prevent cumulative exposure is highly recommended. Education about this and latex-food syndrome should be provided to all patients.

Dermatology

Patients with MMC are at risk for pressure ulcers, shear injuries, or burns due to insensate skin, incontinence, impaired mobility, orthopedic abnormalities, obesity, and orthoses.

Nutrition

Obesity is very common, especially in older adolescents and adults. On the other hand, significant dysphagia from brain stem dysfunction may lead to failure to thrive and difficulty gaining weight.

Psychosocial

Difficulties with motivation and academic performance may be reported by parents. High executive skill dysfunction may result in lack of independence and difficult transition to adulthood in areas such as employment and social participation. Depression may be common in older adolescents and adults. Body image and social continence (the ability to be dry and clean during the day) become significant factors in self-esteem. Incontinence may preclude patients from gainful employment, partner relations, and financial security due to limited social participation.