What diseases are associated with spina bifida?

Diseases Associated with Spina Bifida

Spina bifida, particularly myelomeningocele, is associated with a constellation of neurological and systemic conditions including hydrocephalus (occurring in approximately 80% of cases), Chiari II malformation, tethered cord syndrome, neurogenic bladder dysfunction, scoliosis, and brainstem dysfunction. 1, 2

Primary Associated Neurological Conditions

Hydrocephalus

• Hydrocephalus develops in roughly 80% of children with spina bifida, making it the most common associated condition 1
• This occurs due to the Chiari II malformation obstructing cerebrospinal fluid flow 2
• Requires lifelong neurosurgical surveillance and often necessitates shunt placement 2, 3

Chiari II Malformation

• Present in virtually all cases of myelomeningocele (open spina bifida) 2, 3, 4
• Can cause brainstem dysfunction, sleep apnea, and swallowing difficulties 5
• May lead to hydrosyringomyelia (fluid-filled cavities within the spinal cord) 2

Tethered Cord Syndrome

• Occurs when the spinal cord becomes abnormally attached, restricting its movement 6, 2
• Requires continued surveillance in all patients with spina bifida throughout life, as it can develop or recur even after initial repair 6, 7
• Presents with progressive neurological deterioration, worsening bladder function, or orthopedic changes 2

Urological and Renal Complications

Neurogenic Bladder Dysfunction

• Urological issues represent a significant source of morbidity and mortality in spina bifida patients 6
• Chronic kidney disease due to poor bladder dynamics is a serious long-term complication requiring proactive management 6, 8
• Vesicoureteral reflux and upper urinary tract deterioration can develop without early intervention 8

Musculoskeletal Associations

Scoliosis

• Commonly develops in patients with spina bifida, particularly those with higher-level lesions 1, 2
• Requires monitoring throughout growth and may necessitate surgical intervention 2
• The presence of spinal dysraphism (including spina bifida) is associated with increased risk of neural axis abnormalities when scoliosis develops 1

Orthopedic Sequelae

• Hip dislocation, clubfoot deformities, and joint contractures are common 9
• Lower extremity paralysis varies with the level of the spinal lesion 9

Other Systemic Conditions

Cardiovascular and Metabolic

• Adults with spina bifida have increased risk of hypertension and hyperlipidemia, requiring routine surveillance 5
• Obesity is more common in this population 9

Dermatological

• Pressure sores and lymphedema occur frequently, particularly in adults with limited mobility 5

Neuropsychological

• Executive dysfunction and nonverbal learning disability are common, impacting self-management, independent living, and employment 5
• These cognitive issues are often underrecognized but significantly affect quality of life 5

Sexual and Reproductive Health

• Erectile, ejaculatory, and orgasmic dysfunction are common in males with spina bifida 8
• Infertility affects both males and females 5

Important Clinical Pitfalls

The diagnosis of associated conditions requires active surveillance rather than waiting for symptoms to develop, as many complications (particularly urological deterioration) can progress silently 6, 8. The multidisciplinary nature of spina bifida means that isolated specialty care is insufficient—coordination between neurosurgery, urology, orthopedics, and physiatry is essential 7, 5.