Nonspinal orthopaedic problems in familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Ashkenazi Jews. It affects the autonomic, central, and peripheral nervous systems. The purpose of this study was to assess the prevalence and characteristics of orthopedic deformities, other than spinal deformities, in this population. A retrospective review of the medical records and radiographs of 182 patients was made. Three main groups of orthopaedic conditions were evaluated: (a) Fractures: 60% of the patients had one or more fractures; the average fracture rate was 1.4/patient. (b) Neuropathic joints: 11% of the cases had one or more neuropathic joints, the knee being the most common. (c) Other musculoskeletal deformities: 26% of the patients had one or more deformities. Lower extremity rotational problems and foot anomalies accounted for most of these deformities. Patients with FD have a higher prevalence of fractures and neuropathic joints than do their peers. The fracture pattern also is different, with a higher incidence of proximal femoral fractures.

Surgical treatment of adolescent idiopathic scoliosis: a comparative study of two segmental instrumentation systems.

This study compares two different surgical techniques and instrumentation types in the treatment of adolescent idiopathic scoliosis. The charts and radiographs of 116 patients with adolescent idiopathic scoliosis treated by posterior spine fusion with Isola or Cotrel-Dubousset instrumentation were reviewed. Patients were separated into two equivalent groups matched for age, sex, curve type, and curve magnitude. All patients had a minimum of 2 years follow-up. The instrumentation in group 1 consisted of hooks, wires, and pedicle screws. That used in group 2 was limited to hooks and rods. The Mann-Whitney, Wilcoxin, and the paired Student t tests for matched pairs were used for statistical analysis. Patients in group 1 had increased curve correction (66% vs. 52%), apical vertebral translation (63% vs. 30%), and correction of the end vertebral tilt angle (11 degrees vs. 3 degrees) (p < 0.001). The percentage of coronal curve correction in curves larger than 65 degrees also was greater in group 1 (59% vs. 40%). Physiologic sagittal alignment was obtained in 80% of the patients in group 1 and 25% in group 2. No major complication or pseudoarthrosis occurred in either group. This study supports improved correction of curve magnitude, apical translation, and end vertebral tilt angle with the use of multiple anchor types compared with the correction achieved with standard hook-and-rod constructs.

The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density.

Twenty-one patients with Marfan's syndrome participated in a study to assess the incidence of and radiographic measurements significant for protrusio acetabuli. Our data show that the incidence of protrusio acetabuli in Marfan's syndrome is 31%. The most sensitive radiographic parameter to determine protrusio acetabuli is crossing of the acetabular line by the iliopectineal line. The presence of protrusio in Marfan's syndrome was not related to the bone mineral content of the hip and pelvis. Protrusio acetabuli in Marfan syndrome's also did not correlate with clinical symptoms. Based on our results, the presence of protrusio acetabuli alone is not an indication for early surgical intervention.

Spinal deformity in familial dysautonomia. Prevalence, and results of bracing.

BACKGROUND: Familial dysautonomia (Riley-Day syndrome) is an autosomal recessive disorder primarily affecting individuals of Ashkenazi Jewish extraction. It affects the autonomic, central, and peripheral nervous systems. Spinal deformity (mainly scoliosis) is the most common orthopaedic problem in patients with familial dysautonomia. The objectives of our study were to document the prevalence of spinal deformity in a referral center for familial dysautonomia and to determine the effectiveness of bracing. METHODS: We performed a retrospective radiographic and clinical study of 123 patients with familial dysautonomia who had survived to the age of twenty years or older. RESULTS: One hundred and two (83 percent) of the 123 patients had spinal deformity: sixty-nine (56 percent) had scoliosis only, thirty-one (25 percent) had scoliosis as well as kyphosis, and two (2 percent) had kyphosis only. Scoliosis was diagnosed by the age of ten years in sixty-four (52 percent) of the patients. Of the sixty-five patients who were treated with bracing, fifty-eight (89 percent) had progression and twenty-four (37 percent) underwent spinal arthrodesis. No risk factors for the presence or progression of the curves could be found. CONCLUSIONS: The prevalence of spinal deformity in patients with familial dysautonomia who had lived for at least twenty years was found to be 83 percent. By the age of ten years, 52 percent of the patients had scoliosis and 21 percent had kyphosis with or without scoliosis. Bracing was found to be of limited effectiveness as a definitive treatment for spinal deformity. The curve progressed despite bracing in fifty-eight (89 percent) of sixty-five patients.

Cardiac complications of end-stage renal disease.

Cardiovascular disease is the leading cause of death in patients receiving dialysis. This is attributed in part to the shared risk factors of cardiovascular disease and end-stage renal disease. The risk factors for coronary artery disease include the classic cardiac risk factors of diabetes mellitus, hypertension, dyslipidemia, and smoking. Also in this population, hyperparathyroidism, hypoalbuminemia, hyperhomocysteinemia, elevated levels of apolipoprotein (a), and the type of dialysis membrane may play a role. Management begins with risk factor modification and medical therapy including aspirin, beta blockers, angiotensin converting enzyme (ACE) inhibitors, and lipid-lowering agents. Revascularization is often important, and coronary artery bypass grafting appears to be preferable to percutaneous transluminal coronary angioplasty. This is especially true for those with multivessel disease, impaired left ventricular function, severe symptoms, or ischemia. Congestive heart failure is another common problem in dialysis patients. The management includes correction of underlying abnormalities, optimal dialysis, and medical therapy. Data obtained from the general population indicate obvious benefits from ACE inhibitors and beta blockers, and these agents would be considered the therapies of choice. Erythropoetin is also an essential component of therapy, but the ideal hemoglobin concentration has yet to be determined. Peritoneal dialysis may be helpful in severe cases of heart failure. Pericarditis is seen in less than 10% of dialysis patients and is best diagnosed by clinical examination and echocardiography. Intensive dialysis is often the best initial therapy. Pericardiocentesis is reserved for the setting of pericardial tamponade, but a pericardial window is more definitive.

Resection arthroplasty of the hip for patients with cerebral palsy: an outcome study.

Thirteen patients (18 hips) with cerebral palsy and painful hip subluxation or dislocation underwent proximal femoral resection-interposition arthroplasty (PFRIA) as a salvage procedure for intractable pain or seating difficulty. Eleven patients (14 hips) had a prior failed soft-tissue or bony reconstruction. The average age at surgery was 26.6 years (range, 10.7-45.5 years), and average follow-up was 7.4 years (range, 2.2-20.8 years). All patients/caregivers noted significant improvement in subjective assessment of pain after the surgery. Upright sitting tolerance improved from an average preoperative value of 3.2-8.9 h postoperatively (p < 0.01). Four patients who were unable even to sit in a customized wheelchair before the operation could be easily seated in a custom chair after surgery. Hip range of motion including flexion, extension, and abduction was significantly improved postoperatively (p < 0.05). Single-dose radiation therapy was used postoperatively for five hips and resulted in a significantly lower grade of heterotopic ossification at final follow-up (p < 0.005). Skeletal traction in the postoperative period did not prevent proximal migration of the femur compared with skin traction. Maximal pain relief was achieved at an average of 5.6 months postoperatively (range, 0.03-14 months). Complications included transient postoperative decubitus ulceration (four patients), pneumonia (two patients), and symptomatic heterotopic bone (two patients). The significant improvements in pain management, sitting tolerance, and range of motion suggest that PFRIA is a reasonable salvage procedure for the painful, dislocated hip in cerebral palsy. Resolution of pain may not be immediate, as was noted in this series.

Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta.

STUDY DESIGN: A cross-sectional radiologic and clinical study of patients with osteogenesis imperfecta. OBJECTIVES: To determine whether pulmonary compromise is more closely correlated with scoliosis, kyphosis, or chest wall deformity in the population with osteogenesis imperfecta, and to assess the impact of spinal deformity, chest wall deformity, and pulmonary function on quality of life. SUMMARY OF BACKGROUND DATA: The incidence of scoliosis in osteogenesis imperfecta is between 39% and 80%. Up to 60% of patients with osteogenesis imperfecta have significant chest wall deformities. Pulmonary compromise is the leading cause of death in adults with osteogenesis imperfecta. METHODS: Fifteen patients with osteogenesis imperfecta between the ages of 20 and 45 were evaluated with sitting or standing anteroposterior and lateral radiographs of the entire spine, pulmonary function testing, and a validated health self-assessment questionnaire (Short Form-36). Radiographs were evaluated for thoracic scoliosis, thoracic kyphosis, and chest wall deformity. Correlation analysis was performed. RESULTS: Thoracic scoliosis was strongly correlated with decreased predicted vital capacity (r = -0.76). Significant diminution in vital capacity below 50% occurred at a curve magnitude of 60 degrees. Kyphosis and chest wall deformity were not predictive of decreased pulmonary function. Physical health (PCS) was closely correlated with predicted vital capacity (r = 0.65; P < 0.01) and with scoliosis (r = -0.52; P < 0.05). CONCLUSIONS: Thoracic scoliosis of more than 60 degrees has severe adverse effects on pulmonary function in those with osteogenesis imperfecta. This finding may partly explain the increased pulmonary morbidity noted in adult patients with osteogenesis imperfecta and scoliosis compared with that in the general population.

Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient.

Jarcho-Levin syndrome is a genetically transmitted rare entity characterized by multiple vertebral and rib anomalies. The multilevel skeletal involvement causes short stature, neck and thoracic cage deformities, and restrictive lung disease that is usually the cause of early death. The authors describe a 33-year follow-up of a patient with this syndrome who represents, to their best knowledge, the longest survival of a patient with this entity.

Routine preoperative MRI and SEP studies in adolescent idiopathic scoliosis.

In this prospective study, 72 patients with the clinical diagnosis of adolescent idiopathic scoliosis underwent routine preoperative magnetic resonance imaging (MRI) scans and neurologic consultations. Forty-eight patients also had preoperative somatosensory evoked potentials (SEPs). All patients had normal neurologic examinations. Abnormal findings included two patients with Chiari type I malformation and one with a finding of a fatty collection in a vertebral body. In four cases, interpretation of the MRI was suspicious or equivocal, necessitating a computed tomography myelogram or other additional studies for clarification. Abnormal preoperative SEP results were obtained in three patients, none of which proved significant. All surgical patients underwent instrumentation and fusion without incident. The results indicate that routine preoperative SEP is not necessary. Routine preoperative MRI is probably not indicated in adolescent idiopathic scoliosis if the patient has a normal neurologic examination.

Scoliosis in familial dysautonomia. Operative treatment.

The results of operative treatment of scoliosis were reviewed for twenty-two patients (ten boys and twelve girls) who had familial dysautonomia, an autosomal recessive disorder affecting primarily Ashkenazi Jews. The indication for operative intervention was progressive kyphoscoliosis to 45 degrees or more in a skeletally immature patient for whom bracing had failed. The mean age at the time of the operation was fifteen years and five months (range, eight years and two months to nineteen years). Seventeen patients had a thoracic curve with a mean preoperative Cobb angle of 69 degrees (range, 47 to 112 degrees), and five patients had a double major curve with a mean preoperative Cobb angle of 71 degrees (range, 42 to 87 degrees) for the cephalad curves and 60 degrees (range, 45 to 72 degrees) for the caudad curves. Twenty patients had a rigid kyphosis; in fourteen, the apex was at the seventh thoracic vertebra or more cephalad. Two patients had a lordoscoliosis. The mean preoperative kyphosis was 64 degrees (range, 12 to 110 degrees) in the thirteen patients who had a thoracic curve and for whom information regarding kyphosis was available, and it was 70 degrees (range, 54 to 84 degrees) in the five patients who had a double major curve. Postoperior spinal arthrodesis and instrumentation was performed in all patients. Two patients had an anterior arthrodesis as well because of the severity and rigidity of the curve. Allograft bone was used in eighteen patients. Postoperatively, all patients were managed with a body cast or with a custom-molded thoracolumbar brace.(ABSTRACT TRUNCATED AT 250 WORDS)

Epiphyseal growth after pinning of slipped capital femoral epiphysis.

Seventy-seven hips in 61 patients (mean age, 13 years) with slipped capital femoral epiphysis treated with in situ pinning were retrospectively evaluated to determine the frequency and magnitude of epiphyseal growth after pinning. Threaded Steinmann pins, Knowles pins, and cannulated screws were used. Evidence of the epiphysis "growing off" the pins was seen in 29 and 18% of the hips treated with Steinmann and Knowles pins, respectively. No hips with cannulated screws continued to grow after surgery. The use of one cannulated screw in the treatment of mild and moderate slipped capital femoral epiphysis is recommended.

Proximal tibial osteotomy with compression plate fixation for tibia vara.

A surgical technique for the accurate intraoperative correction of tibia vara deformities with maintainence of postoperative alignment is presented. This was a retrospective study of 13 knees of nine patients with tibia vara deformities treated by proximal tibial and fibular osteotomies using compression-plate fixation. Average age of the patients was 9 + 1 years, with a range of 3 + 1 to 14 + 11 years. The average preoperative deformity was 20 degrees of varus with a range of 15-36 degrees. Average follow-up was 3 + 3 years, with a range of 2 to 4 + 1 years. All patients had intraoperative correction to an average valgus of 5 degrees (range 4-8 degrees valgus), with an overall valgus correction of 25 degrees (range 20-40 degrees). There was one reoperation for unilateral recurrence of deformity in a child who progressed from stage III to stage VI postoperatively. Proximal tibial osteotomy with compression-plate fixation provides an accurate and reliable method for the correction of multiplanar deformities in children and adolescents.

Neuropathic foot ulceration in patients with myelodysplasia.

To determine if a significant relationship existed between type of operation and eventual development of pedal skin breakdown in a spina bifida patient population, 72 feet in 36 ambulatory patients with low lumbar or sacral myelomeningocele were followed for an average of 14 years 5 months. Using a clinical classification for foot suppleness and position, we determined that foot rigidity, nonplantigrade position, and performance of surgical arthrodesis were clinical indicators that had a strong statistical relationship with eventual development of neuropathic skin changes.

Salvage and reinfusion of postoperative sanguineous wound drainage. A preliminary report.

Thirty-five patients who were to have posterior spinal arthrodesis, total hip arthroplasty, or total knee arthroplasty were entered into one of two groups: Group A, to receive unwashed, filtered sanguineous drainage from the wound, or Group B, to receive washed, filtered drainage. The purpose of this prospective study was to evaluate the safety, efficacy, and difficulty of reinfusion of washed compared with unwashed drainage that had been salvaged from the wound after an orthopaedic operation. The sixteen patients in Group A received a mean of 475 milliliters of unwashed drainage for each total knee arthroplasty, 427 milliliters for each total hip arthroplasty, and ten milliliters for the one posterior spinal arthrodesis. The complications included immediate hypotension (two patients), hyperthermia (one patient), and hypotension five hours after reinfusion (one patient). The latter patient died, four days after the operation, of a massive myocardial infarction. The nineteen patients in Group B received a mean of 193 milliliters of washed, filtered drainage for each total knee arthroplasty, 203 milliliters for each total hip arthroplasty, and 179 milliliters for each posterior spinal arthrodesis. Salvage and reinfusion of washed drainage from the wound caused no problems in these patients.

Unilateral blindness as a complication of patient positioning for spinal surgery. A case report.

Extreme care must be used in positioning patients for surgery in a prone position. A padded Mayfield headrest may not be appropriate for all patients undergoing spinal surgery, as exophthalmus or a flattened nasal bridge may allow transmission of pressure to the globe. Our current approach is to use supplementary foam rubber support, with repeated, meticulous attention to keeping the eyes free from all pressure. Finally, unexplained intraoperative occurrence of a bradyarrhythmia or conduction disturbance may signal increased intraorbital pressure during general anesthesia.

Percutaneous computed-tomography-guided biopsy of the thoracic and lumbar spine.

Axial computed tomographic scans were used to guide percutaneous needle biopsies in 76 patients with thoracic and lumbar spinal lesions. Prebiopsy evaluation included spine radiographs, radionuclide bone scans, computed tomographic scans, magnetic resonance imaging scans in some cases, and coagulation studies. Forty-five patients were diagnosed as having metastatic lesions, 11 infection, and 12 primary bone tumors. Of all patients, 34 had lytic vertebral lesions with significant collapse and questionable spinal stability. Six of those had a concomitant paravertebral mass. A clinical and pathologic correlation was completed for each of the cases studied. Histologic diagnosis confirming the clinical suspicion was obtained on the first biopsy attempt in 65 (86%) of the 76 cases.

Vibratory response in congenital scoliosis.

Vibratory studies were performed on 10 adolescent subjects being followed for congenital scoliosis. The average age was 12 years 4 months and the average curve was 32 degrees. Twenty-one age-matched controls underwent identical studies. Threshold to detection of vibratory stimuli in the upper and lower extremities was quantified. Results showed that the scoliotic subjects were consistently less sensitive than the controls in the lower but not the upper extremity. The occurrence of hyposensitivity in only the lower extremity of persons with congenital scoliosis implies that the sensory deficit is secondary to the spinal deformity itself rather than a primary etiologic factor.