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Chapter Summary
• Context: Spinal dysraphisms comprise a broad spectrum of congenital malformations arising from midline neural tube closure defects, affecting the spinal cord, vertebral column, and surrounding soft tissues. In open dysraphisms, particularly myelomeningocele, early and complex spinal deformities are exceedingly common; in closed dysraphisms, conditions such as tethered cord syndrome, diastematomyelia, and spinal lipomas can induce insidious, progressive deformities. Scoliosis, kyphosis, kyphoscoliosis, and pelvic obliquity result from the interplay of osseous malformations, absence of posterior bony elements, neurological deficits, muscle imbalance, and asymmetric spinal growth. These deformities impair not only spinal alignment, but also sitting balance, pulmonary capacity, skin integrity, orthotic fitting, and functional independence. Clinical management is uniquely demanding because neural axis abnormalities, urological dysfunction, respiratory limitations, fragile soft-tissue envelope, and nutritional deficits frequently coexist and fundamentally reshape treatment risks and goals.
• Chapter Objective: To present the pathophysiological mechanisms responsible for spinal deformities associated with spinal dysraphisms and structure their clinical, functional, and radiological evaluation. The reader will recognize classic scoliosis and kyphosis patterns, appreciate the influence of functional motor levels and pelvic obliquity, identify crucial associated neural conditions, and understand the principles guiding conservative therapy, kyphectomy, long posterior fusion, spinopelvic fixation, and growth-friendly strategies.
• Dysraphism, neurology, and deformity mechanicsThe chapter differentiates open and closed dysraphisms, structured in Figure 1. Myelomeningocele represents the open form of greatest clinical significance, whereas closed dysraphisms encompass diverse conditions with variable neural and structural involvement. Deformity pathophysiology stems from three interdependent components: structural mechanical instability, neuromuscular imbalance, and asymmetric vertebral growth. The absence or hypoplasia of posterior bony elements eliminates passive posterior tension bands; trunk muscle denervation compromises active control; and ongoing growth across an asymmetric spine progressively rigidifies the deformity. Tethered cord, syringomyelia, Chiari malformation, and hydrocephalus represent critical neural factors that can alter neurological status and accelerate progression.
• Deformity patternsRigid, short-radius angular kyphosis is characteristic of severe myelomeningocele patients and may be present from birth. Figure 2 demonstrates its unchecked natural progression. Long-radius kyphosis and kyphoscoliosis also occur. Scoliosis frequently adopts an extensive C-shaped thoracolumbar pattern, illustrated in Figure 3, often accompanied by severe pelvic obliquity. In closed dysraphisms, similar curves can emerge insidiously secondary to spinal cord tethering or asymmetric motor denervation. The functional motor level dictates biomechanics: more proximal deficits correlate with poor trunk control, reduced compensatory capacity, structured deformities, and severe seating challenges.
• The patient beyond the spineComprehensive evaluation must examine hips, knees, and feet, as well as intracranial and intraspinal neurosurgical status. Hydrocephalus, shunt malfunction, syringomyelia, and tethered cord can alter clinical presentation and must be excluded before attributing functional decline solely to spinal deformity progression. Neurogenic bladder/bowel, respiratory restriction, fragile skin, and chronic malnutrition are equally decisive. Figure 6 highlights a dangerous complication of severe lumbar kyphosis: skin ulceration and breakdown over the deformity apex. The chapter underscores the high prevalence of latex allergy in this population, requiring latex-safe perioperative environments.
• Clinical and diagnostic imaging workupFull-spine standing or sitting radiographs capture real-world functional posture and should be complemented by flexibility views, as exemplified in Figure 7. 3D computed tomography (CT) details complex dysplastic anatomy and guides pedicle screw trajectories (Figure 8). Magnetic resonance imaging (MRI) of the entire neuraxis is mandatory in cases of functional regression, rapid curve progression, sphincter deterioration, or suspicion of tethered cord, syrinx, or intracranial anomalies (Figure 9).
• Function-oriented therapeutic strategiesPhysical therapy, adaptive seating, and wheelchair optimization improve comfort and pressure distribution, though they do not halt severe structural progression. Bracing has limited utility and carries high risks of skin breakdown over insensitive areas. When surgical intervention is required, the chapter outlines three main strategies: kyphectomy for severe angular kyphosis, long posterior fusion with spinopelvic fixation, and growth-friendly distraction systems in selected immature patients. Figures 11–13 illustrate these reconstructions. Selection depends on curve morphology, flexibility, motor level, skin envelope, bone quality, and remaining growth.
• Clinical Application: In clinical practice, planning begins with a functional question: how does the spinal deformity impact this patient's daily life? Sitting tolerance, ambulatory status, transfer capability, brace wearability, hygiene, and skin integrity over bony prominences must be analyzed alongside coronal alignment and pelvic obliquity. The functional motor level provides prognostic insight into trunk compensation. Recent rapid curve progression, loss of ambulation, sensory changes, or new sphincter dysfunction must not be reflexively attributed to musculoskeletal growth; MRI of the neuraxis and shunt evaluation are required before spinal reconstruction. Surgical preparation is inherently multidisciplinary. Pulmonary conditioning, nutritional support, urinary tract sterilization, shunt patency verification, skin optimization, and latex precautions are essential. Scarred lumbosacral skin, previous meningocele repairs, or apical pressure ulcers may make soft-tissue coverage the defining surgical challenge, justifying early plastic surgery collaboration. In non-ambulatory patients, stable sitting balance and spinopelvic alignment take center stage; in ambulatory patients, fusion levels must be carefully selected to preserve walking capability. The high historical rates of surgical site infection, wound dehiscence, pseudarthrosis, and construct failure emphasize the need for realistic functional goals rather than chasing aggressive radiographic perfection at the expense of patient safety.
