Spondyloepiphyseal Dysplasia Treatment & Management

Updated: Dec 11, 2017
  • Author: Shital Parikh, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Treatment

Medical Care

The American Academy of Pediatrics (AAP) and the Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with spondyloepiphyseal dysplasia (SED) and their families.

A clinical geneticist may be of help to provide counseling to the family. A geneticist may also be a valuable resource for the pediatrician seeking additional information or consultation. The proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish achondroplastic dwarfism from other forms of dwarfism, many of which have an autosomal recessive inheritance.

The following services should be involved for the comprehensive care of the patients:

  • Ophthalmologist - Regular ophthalmologic examination is necessary in patients with SED congenita to identify pathologic retinal conditions, vitreoretinal degeneration, or severe myopia
  • Neurologist - Consultation is recommended for assessment of infantile hypotonia, generalized motor delay, or myelopathy
  • Pulmonologist - Pulmonary functions should be evaluated, and respiratory complications such as apnea, pneumonia, restrictive lung diseases, and cyanosis should be evaluated
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Surgical Care

Orthopedic and other surgical procedures are indicated in patients with SED. Although these can be performed safely in most patients, specific structural and physiologic abnormalities should be carefully considered, especially by the anesthesia team.

Spondyloepiphyseal dysplasia congenita

Most of the orthopedic problems encountered in patients with SED congenita are related to atlantoaxial instability and spine, hip, and knee deformities. [33]

Posterior atlantoaxial fusion is indicated for patients with signs and symptoms of atlantoaxial instability measuring 8 mm or more or myelopathy. Fusion to the occiput may be required due to the small size of the posterior ring of the atlas or the presence of a large midline synchondrosis. Halo vest immobilization is necessary postoperatively in patients with odontoid hypoplasia and extension instability.

In skeletally immature patients with scoliosis measuring 40° or less, initial treatment should be use of a brace. Bracing is often ineffective by reason of the small trunk size, the rigidity of the curves, and the marked amount of trunk rotation. However, Milwaukee brace treatment may be useful in delaying the fusion until the patient is older. [34]

Patients with curves that progress despite brace treatment or that measure more than 50° should be considered candidates for a posterior spinal fusion. In patients aged 3-10 years, a distraction rod inserted without spinal fusion allows growth to continue for several years and minimizes the scoliosis. The spine is then fused at skeletal maturity.

The use of anterior (open or video-assisted thoracoscopic surgery [VATS]) and posterior approaches improves correction in these patients, in whom rigidity is more prominent and occurs at earlier ages than in patients with idiopathic SED. Instrumentation systems designed for smaller younger patients combined with the use of sensory and neuromuscular monitoring increase the safety of surgical intervention.

In adult patients, standard instrumentation may be used, since the spinal canal is not narrowed by bone dysplasia. The lordosis in these patients is not sufficient to warrant primary surgery.

Although antilordotic bracing has been used, no indication of its effectiveness has been published. Much of the lumbar lordosis is secondary to hip flexion deformities and improves upon surgical correction of hip position. Milwaukee brace with kyphosis pads was successful in preventing progression of thoracic kyphosis in one study. [34]

When the deformity progresses in spite of nonsurgical management, surgical fusion is required to prevent spinal cord compression and spastic paraplegia. Anterior and posterior fusions are recommended for rigid curves and in younger patients.

In patients with coxa vara, if the femoral neck-shaft angle measures 100° or less, the Hilgenreiner-epiphyseal angle is greater than 60°, or an inverted triangular fragment is present, Bassett recommends a valgus intertrochanteric osteotomy to prevent progressive varus deformity or discontinuity of the femoral neck. The neck-shaft angle should be corrected to at least 140° at the time of surgery to prevent recurrent deformity. Simultaneous extension with the valgus osteotomy decreases the flexion deformity of the hip and may improve lumbar lordosis.

Bayhan et al assessed midterm (mean follow-up, 5 years) clinical, radiographic, and gait outcomes after valgus hip osteotomy in 26 patients (12 boys, 14 girls; 48 hips) with SED congenita and coxa vara. [35]  Preoperative pain was noted in 30 hips; at final follow-up, three hips were painful at the extreme range of motion (ROM). Passive ROM, radiographic neck shaft angle (NSA), and Hilgenreiner-trochanteric (H-T) angle improved postoperatively; NSA was maintained during follow-up, but the H-T angle deteriorated. Spinopelvic measurements changed significantly, and gait remained stable except for pelvic tilt, which reduced significantly after surgery.

In patients with subluxation, hinge abduction, or osteoarthritis, reconstructive measures may be indicated. Open reduction with femoral and acetabular osteotomies may be performed to treat hip dislocation.

Hip arthroscopy has been used for the treatment of acute or semiacute changes in hip pain in patients with multiple epiphyseal dysplasia and SED. [36] A wide spectrum of intra-articular pathologies, such as labral tears, chondral flaps, and loose bodies, can be addressed through arthroscopy.

A varus supracondylar femoral osteotomy or a proximal tibial and fibular osteotomy can be considered for patients with symptomatic knees or severe valgus deformities. Proximal femoral valgus osteotomy for coxa vara further accentuates the distal femoral valgus. Medial hemiepiphyseal stapling of the distal femoral or the proximal tibial growth plate can be performed. Lateral patellar dislocation is relatively frequent, and treatment can be conservative or surgical, depending on the circumstances. [37]

Equinovarus deformities (clubfeet) may require surgical correction if they cannot be managed with physical therapy or serial casting.

Spondyloepiphyseal dysplasia tarda

Scoliosis in a patient with SED tarda should be managed in much the same fashion as idiopathic scoliosis in adolescents. Bracing should be considered for curves approaching 30° in skeletally immature patients. Posterior spinal fusion may be required for curves not controlled with bracing. Similarly, atlantoaxial instability may require posterior stabilization.

Osteoarthritis of the hip is a common sequela, and valgus or valgus-extension intertrochanteric osteotomy may improve hip congruity. Osteoarthritis in adulthood may be treated using total joint arthroplasty. Custom components may be necessary due to the anatomy and length of the femur. Coxa magna may be evident, and acetabular augmentation may be useful if the acetabulum is insufficient to contain the enlarged femoral head.

As with SED congenita, a wide spectrum of intra-articular pathologies, such as labral tears, chondral flaps, and loose bodies, can be addressed through hip arthroscopy. [36]

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Activity

Because of neck instability, persons with SED congenita should be advised to exercise caution and to avoid activities or sports that could result in trauma to the neck or head. Patients who have instability with an atlantodental interval (ADI) of 4 mm or more or symptomatic instability should not be allowed to participate in competitive sports.

Many low-impact activities are recommended for persons with SED, including bicycling, dancing, aerobics, rowing, spinning, swimming, walking, water jogging, and water aerobics.

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Consultations

Before any surgical intervention, consideration should be given to various structural and physiologic abnormalities, especially by the anesthesia team. Odontoid hypoplasia, short and unstable neck, pectus carinatum, decreased pulmonary functions due to thoracic cage malformation, and rigid spinal deformities are some of the concerns that should be considered during preoperative evaluation. In addition, the following consultations are recommended:

  • Ophthalmologist - Regular ophthalmologic examination is necessary in patients with SED congenita to identify pathologic retinal conditions, vitreoretinal degeneration, or severe myopia
  • Neurologist - Consultation is recommended for assessment of infantile hypotonia, generalized motor delay, or myelopathy
  • Otolaryngologist - Consultation is recommended for assessment of sensorineural hearing loss, recurrent otitis media, and cleft palate
  • Geneticist - A clinical geneticist may be of help to provide counseling to the family and also may be a valuable resource for the pediatrician seeking additional information or consultation; proper establishment of the mode of inheritance not only aids in genetic counseling but also enables the orthopedist to distinguish achondroplastic dwarfism from other forms of dwarfism, many of which have an autosomal recessive inheritance
  • Pulmonologist - Pulmonary functions should be evaluated, and respiratory complications such as apnea, pneumonia, restrictive lung diseases, and cyanosis should be evaluated
  • Pediatrician - The AAP and the Committee on Genetics have issued guidelines to assist the pediatrician in caring for children with SED and their families
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