Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.

Selective dorsal rhizotomy (SDR) has been used to treat children with spastic cerebral palsy (CP), and its beneficial effect on quality of life and ambulation has been confirmed in long-term follow-up studies. However, the role of SDR in the treatment of spasticity in patients with hereditary spastic paraplegia (HSP) and related disorders is not well-established. Here, we report the first patient with the ZC4H2 variant who underwent SDR to treat spastic paraplegia. Abnormal gait was discovered during a regular checkup at the age of 3 years and 9 months, and she was diagnosed with spastic paraplegia. She was heterozygous for the ZC4H2 variant and underwent SDR at the age of 5 years and 11 months, which alleviated the spasticity. The patient underwent inpatient postoperative rehabilitation for 4 months and continued outpatient physiotherapy after discharge. The Gross Motor Function Measure-88 score and maximum walking speed decreased transiently 1 month postoperatively, but gradually recovered, and continuously improved 6 months postoperatively. SDR and postoperative intensive rehabilitation were effective in improving motor and walking functions up to 6 months after surgery, although long-term follow-up is needed to draw conclusions.

Long-term results of Chiari pelvic osteotomy on the preservation of hip function with mean follow-up of more than 30 years and its prognostic factors.

BACKGROUND: Clinical outcomes of Chiari pelvic osteotomy for acetabular dysplasia, including conversion to total hip arthroplasty (THA), have not been adequately explored. The purpose of this study was to examine the long-term results and clinical outcomes of Chiari pelvic osteotomy as the primary outcome and to analyze its prognostic factors as the second outcome. METHODS: This study was a multicenter, retrospective cohort study. Ninety-seven patients underwent Chiari pelvic osteotomy at three hospitals between March 1975 and October 1997. The long-term clinical outcomes of Chiari pelvic osteotomy, including conversion to THA and hip pain, were analyzed using the Kaplan-Meier method. In addition, the prognostic factors for conversion to THA after Chiari pelvic osteotomy were evaluated with clinical variables and radiographic parameters. RESULTS: The study included 51 hips in 45 patients (4 men and 41 women) with long-term follow-up. The survival rates assessed by Kaplan-Meier analysis with conversion to THA as an endpoint, were 90.2% (95% confidence interval (CI) 82.0-98.4%) at 20 years and 73.5% (95% CI 61.1-86.0%) at 30 years. In contrast, the Kaplan-Meier survival rates with the Japanese Orthopaedic Association hip score for pain ≤20 as an endpoint, were 86.3% (95% CI 76.8-95.7%) at 20 years and 65.6% (95% CI 52.3-79.0%) at 30 years. Only older age at osteotomy was the significantly poor prognostic factor for conversion to THA, with a hazard ratio of 1.11/year, 95% CI 1.06 to 1.18, (p < 0.01). CONCLUSION: Chiari pelvic osteotomy may still be a good alternative to bony reconstructive surgery for acetabular dysplasia especially in young patients. Only older age at the osteotomy was related to the poor prognosis of preserving hip function.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.Ile66Thr variant as the fourth SPG57 genotype.

Surgical indication and outcome in patients with postoperative retethered cord syndrome.

OBJECT: After untethering of spinal dysraphism, some patients present with neurological deterioration, defined as retethered cord syndrome. It is known that surgical untethering is an option for improving the symptoms of retethered cord syndrome. Previous reports have shown that postoperative improvement in retethered cord syndrome was noted in the majority of patients presenting with pain, and in more patients with motor weakness than in those with urological symptoms. The authors speculate that subjective symptoms may be detected while symptoms are still reversible. In contrast, changes in urological function are less easy to diagnose, and delays in treatment may be complicated by advanced symptoms. In this study, patients with retethered cord syndrome were evaluated to investigate the benefits of performing routine urodynamic study to detect detrusor overactivity, which is considered to be a subclinical change of urological function, and to investigate the efficacy of early untethering surgery on the symptoms of retethered cord syndrome. METHODS: Surgical indications and outcomes of 78 untethering operations (20 for myelomeningocele, 58 for spinal lipoma) for retethered cord syndrome were examined. Diagnosis of retethered cord syndrome was defined by a multidisciplinary spina bifida team, and included routine urodynamic study. RESULTS: Preoperative symptoms included urological symptoms (70%), lower-extremity symptoms (45%), and others. The most frequent urological symptom was detrusor overactivity detected by urodynamic study (88.7%). Urinary incontinence was only found in 9.4% of patients. Postoperatively, progressive motor weakness improved in all patients, and sensory symptoms improved in 94%. Urological symptoms improved in 80% of the patients with urinary incontinence and in 75% of the patients with detrusor overactivity. Postoperative urodynamic study showed a significant increase in bladder volume (p < 0.05). The most common complication was temporary lower leg paresthesia that recovered at follow-up. Aggravated dysuria was noted in 3 patients. CONCLUSIONS: Early untethering operations offer symptomatic relief to patients with retethered cord syndrome. Urodynamic study findings, especially detrusor overactivity, are considered to be the most significant indicators for early diagnosis of retethered cord syndrome.

A patient with focal fibrocartilaginous dysplasia in the distal femur and review of the literature.

Focal fibrocartilaginous dysplasia (FFCD) is a rare and benign bone lesion that induces bowing deformity of the long bones in young children. Excessive production of fibrocartilage by abnormal differentiation in the metaphysis or by trauma during delivery or after birth is thought to cause growth disturbance. Radiologically, the lesion is characterized by a lucent defect with marginal sclerosis in the medial metaphysis of the long bone. However, there have been few reports about the initial radiological changes of FFCD before bowing started. We report a patient with FFCD in the left distal femur in whom the radiological changes were serially observed during the course of the disorder. A 2-week-old boy first visited our hospital because of left thigh pain. Plain radiographs did not show any abnormal findings at that time. At 10 weeks, a well-defined lucent defect with bony fragment inside was observed in the distal femoral medial cortex. At 1 year, this bony fragment gradually vanished but varus deformity progressed and reached approximately 40 degrees at the age of 2. After removal of the lesion, osteotomy and immobilization was performed with Ilizarov external fixator comprising rings, rods and wires. Complete bone union was achieved 3 months after operation. It is noteworthy that we could observe the initial radiological changes of FFCD before varus deformity occurred. As far as we know, there have been no descriptions of the bony fragment inside a lucent defect of the lesion. Radiological features may vary in the early phase of FFCD.