Selective Dorsal Root Rhizotomy for Spastic Cerebral Palsy: A Longitudinal Case-Control Analysis of Functional Outcome.

BACKGROUND: The benefit of selective dorsal rhizotomies (SDR) on motor function relative to the cerebral palsy (CP) natural history remains unknown. OBJECTIVE: To determine the functional benefit of SDR over the longitudinal CP natural history. METHODS: Retrospective, single-center, case-control study of patients post-SDR after 1990. Inclusion criteria were the following: diagnosis of spastic CP, at least 1 preoperative and 1 postoperative Gross Motor Function Measure (GMFM-88), at least 1 yr of postoperative follow-up. GMFM-88 assessments were performed at 1, 2, 3, 5, 10, and 15 yr postoperatively and converted to GMFM-66. Cases were stratified by preoperative Gross Motor Function Classification System (GMFCS) and matched against their expected natural history using published reference centiles. After age 12, our cohort and matched controls were also fitted to published nonlinear mixed models of GMFM-66 evolution over time. RESULTS: Analysis included 190 patients. Median follow-up, 5.3 yr (range: 1-16.9), median age at surgery, 4.6 yr, and 81.6% of patients grouped as GMFCS II or III pre-op. SDR patients performed statistically significantly better than their expected natural history (P < .0005). At 21 yr old, a modeled benefit of 8.435 was observed for GMFCS I (P = .0051), 0.05 for GMFCS II (P = .9647), 6.31 for GMFCS III (P < .0001), and 1.191 for GMFCS IV patients (P = .0207). CONCLUSION: These results support the use of SDR in carefully selected spastic CP children.

A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia.

Multiple epiphyseal dysplasia (MED) is a genetically and clinically heterogeneous disease with both dominant and recessive inheritance. Eight different genes are known to cause the disease but in 15% of cases of MED, no mutation is found. Fibroblast growth factor receptor 1 (FGFR1) is a crucial regulator of bone formation and when mutated, can cause diseases with skeletal manifestations; nevertheless, MED has not been described in individuals with FGFR1 mutations. In this report, we describe a proband with MED and congenital normosmic hypogonadotropic hypogonadism (HH). DNA analysis showed a de novo frameshift variant in FGFR1 likely explaining the HH (p.Arg852Thrfs*165). No other mutation was found after a large gene sequencing panel, exome sequencing and an array CGH, except for a variant of unknown significance in FBN1 (rs755375255), but there were no features of a disease associated with FBN1 mutations and this variant is found a few times in population databases. We thus discuss the possibility that MED might be a new skeletal feature associated with FGFR1 mutations.

Traumatic sternal segment dislocation in a 3-year-old girl: Sonographic findings.

Sternal fractures are uncommon in the pediatric population, and sternal segment dislocations are even rarer with only a few cases reported in the literature. Most cases are secondary to direct trauma to the chest, but nontraumatic dislocations have been reported. The diagnosis can be difficult to establish with standard radiographs, while CT is not desirable in the pediatric population due to the associated irradiation. Ultrasound (US) can be used as the first-line modality to evaluate the sternum. We report the US findings associated with a case of traumatic sternal segment dislocation in a 3-year-old girl. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:45-49, 2017.

Para-iliac actinomycetoma presenting as sarcoma, a late complication of appendicitis: A case report.

INTRODUCTION: Actinomycosis is known to mimic several types of neoplasms, leading to morbid surgical interventions. PRESENTATION OF CASE: We report the particular case of an extensive right para-iliac actinomycetoma presenting as a sarcoma, which to our knowledge has not yet been described in the literature, in a patient with previous ruptured appendicitis. Thanks to the collaborative work between the orthopedic and general surgeons, pathologist and microbiologist, the diagnosis of actinomycosis was made pre-operatively, saving this 15-year-old patient from a tumor resection protocol. DISCUSSION: Actinomycetomas have often been reported to present in the same way as several abdominal and gynecological neoplasms, and on rare occasions been described as mimicking other soft-tissue sarcomas, leading to unnecessary morbid tumor resection protocols. The most common cause of abdominal actinomycosis is perforated appendicitis, and may present several years later. CONCLUSION: While faced with a soft tissue mass transgressing tissue planes and possibly extending to the region of the right lower quadrant, especially with a history of previous perforated appendicitis, one should consider the possibility of an abscess caused by pathogens of intestinal origin, including the gram positive anaerobe Actinomycosis israelii. Failure to actively search for this pathogen, which is not detectable with routine staining techniques and may take up to 1-2 weeks to isolate, may lead to unnecessary morbid surgical procedures.

Long-term functional benefits of selective dorsal rhizotomy for spastic cerebral palsy.

OBJECT: Large-scale natural history studies of gross motor development have shown that children with spastic cerebral palsy (CP) plateau during childhood and actually decline through adolescence. Selective dorsal rhizotomy (SDR) is a well-recognized treatment for spastic CP, but little is known about long-term outcomes of this treatment. The purpose of this study was to assess the durability of functional outcomes in a large number of patients through adolescence and into early adulthood using standardized assessment tools. METHODS: The authors analyzed long-term follow-up data in children who had been evaluated by a multidisciplinary team preoperatively and at 1, 5, 10, and 15 years after SDR. These evaluations included quantitative, standardized assessments of lower-limb tone (Ashworth Scale), Gross Motor Function Measure (GMFM), and performance of activities of daily living (ADLs) by the Pediatric Evaluation of Disability Inventory in children who had been stratified by motor severity using the Gross Motor Function Classification System (GMFCS). In addition, group-based trajectory modeling (GBTM) was used to identify any heterogeneity of response to SDR among these treated children, and to find which pretreatment variables might be associated with this heterogeneity. Finally, a chart review of adjunct orthopedic procedures required by these children following SDR was performed. RESULTS: Of 102 patients who underwent preoperative evaluations, 97, 62, 57, and 14 patients completed postoperative assessments at 1, 5, 10, and 15 years, respectively. After SDR, through adolescence and into early adulthood, statistically significant durable improvements in lower-limb muscle tone, gross motor function, and performance of ADLs were found. When stratified by the GMFCS, long-lasting improvements for GMFCS Groups I, II, and III were found. The GBTM revealed 4 groups of patients who responded differently to SDR. This group assignment was associated with distribution of spasticity (diplegia was associated with better outcomes than triplegia or quadriplegia) and degree of hip adductor spasticity (Ashworth score < 3 was associated with better outcomes than a score of 3), but not with age, sex, degree of ankle plantar flexion spasticity, or degree of hamstring spasticity. In a sample of 88 patients who had complete records of orthopedic procedures and botulinum toxin (Botox) injections, 52 (59.1%) underwent SDR alone, 11 (12.5%) received only Botox injections in addition to SDR, while 25 patients (28.4%) needed further lower-extremity orthopedic surgery after SDR. CONCLUSIONS: In the majority of patients, the benefits of SDR are durable through adolescence and into early adulthood. These benefits include improved muscle tone, gross motor function, and performance of ADLs, as well as a decreased need for adjunct orthopedic procedures or Botox injections. The children most likely to display these long-term benefits are those in GMFCS Groups I, II, and III, with spastic diplegia, less hip adductor spasticity, and preoperative GMFM scores greater than 60.

Determinants of responsiveness to botulinum toxin, casting, and bracing in the treatment of spastic equinus in children with cerebral palsy.

AIM: The objective was to determine whether specific intrinsic (age, pattern of cerebral palsy [CP], child's motivation) and extrinsic (number of treatments, parenting stress) characteristics were associated with responsiveness to botulinum toxin A (BoNT-A) injections in children with CP 3 months after injection into the gastrocnemius muscle. METHOD: Children with hemiplegia or diplegia recruited from a BoNT-A programme were evaluated before and 3 months following injection of BoNT-A into the gastrocnemius. Outcome measures included muscle tone, range of motion, gait pattern, level of ambulation, gross motor function, and functional independence. Determinants of responsiveness to BoNT-A considered were age, number of treatments, distribution of CP, parenting stress, and motivation. RESULTS: Thirty-one children were recruited (17 males, 14 females)--22 with hemiplegia and nine with diplegia. Twenty-eight were classified at Gross Motor Function Classification System (GMFCS) level I and three at level III. The mean age was 6 years 4 months (SD 2y 11mo). Younger age (p=0.015) and fewer number (p=0.024) of BoNT-A treatments were associated with greater change in gross motor function. Child's motivation and parenting stress were significantly associated with improvements in muscle tone (p=0.006-0.017), passive range of motion (p=0.008-0.033), gait pattern (p=0.005-0.042), level of ambulation (p=0.001-0.043), and functional independence (p=0.004-0.027). INTERPRETATION: The results indicate that child, family, and treatment characteristics influence the degree of responsiveness to BoNT-A treatment. The contribution of contextual factors (personal and environmental) on responsiveness may be underappreciated in children with CP.

Spinal deformities following selective dorsal rhizotomy.

OBJECT: Selective dorsal rhizotomy (SDR) has been shown to provide considerable benefit to children with spastic cerebral palsy (CP). The authors sought to evaluate the risks of postoperative spinal deformities in patients following SDR. METHODS: All patients who underwent SDR at McGill University between 1991 and 2001 were identified. Hospital charts and radiographic spinal studies (both preoperative and the latest postoperative) were systematically reviewed. Univariate and multivariate regression analyses were conducted to test all independent variables of potential interest to determine risk factors more likely to be associated with spinal deformity. There were 98 patients whose mean age at surgery was 5.1 years; the mean radiographic follow-up duration was 5.8 years. Thirty-nine (44.8%) of 87 patients in whom postoperative weight-bearing radiographs were obtained had mild scoliosis, and 17 in whom standing radiographs were acquired had hyperlordosis. In all, 18 of 94 patients (19.1%) who had postoperative radiographs on which the lumbosacral junction was visible were found to have spondylolisthesis. Regression analysis identified the severity of preoperative CP as an important predictor, and less ambulatory patients were more likely to have scoliotic curves. Younger age at surgery and male sex were factors associated with a lower rate of hyperlordosis. Spondylolisthesis developed only in ambulatory children. None of the patients experienced clinically significant deficits. CONCLUSIONS: There was a high rate of radiologically documented deformities in patients with CP who underwent SDR. Ambulatory function, CP severity, age at surgery, and sex may be contributing factors.