Shlomo Wientroub

Fibrous Dysplasia in the Spine: Prevalence of Lesions and Association with Scoliosis

BACKGROUNDnLesions of fibrous dysplasia involving the spine and scoliosis are thought to be uncommon entities in patients with polyostotic fibrous dysplasia and McCune-Albright syndrome. By examining bone scans of a relatively large cohort of patients with these disorders, we sought to determine the prevalence of spinal involvement and any association with scoliosis.nnnMETHODSnSixty-two patients with polyostotic fibrous dysplasia were studied. There were twenty-three male and thirty-nine female patients, and they had a mean age of twenty-five years (range, four to eighty years). Technetium-99m-methylene diphosphonate (MDP) bone scans of the patients were evaluated for evidence of increased uptake in the spine. The presence or absence of scoliosis or a level pelvis and the distribution of other lesions in the skeleton were noted.nnnRESULTSnThirty-nine (63%) of sixty-two patients were found to have seventy-six lesions of fibrous dysplasia in the spine. Fifty-four lesions (71%) demonstrated increased uptake in the posterior aspects of the spine. Most lesions were located in the lumbar spine (thirty-two lesions) and the thoracic spine (twenty-seven), with less frequent involvement in the sacrum (ten) and cervical spine (six). Twenty-five (40%) of the sixty-two patients had scoliosis; seventeen had a thoracolumbar curve; six, a lumbar curve; and two, a thoracic curve. Seven patients had curves that could not be accurately measured by bone scanning and, therefore, could not be classified. Thirty patients (48%) had no evidence of scoliosis. Thus, the prevalence of scoliosis in patients with polyostotic fibrous dysplasia was between 40% and 52%. There was a strong correlation between spinal lesions and scoliosis (p < 0.001) and pelvic asymmetry (p < 0.05). Back pain was an uncommon symptom. Two patients had a neurologic abnormality; neither abnormality was related to the location of the lesions or the curve.nnnCONCLUSIONSnSpinal lesions and scoliosis may be more common in patients with polyostotic fibrous dysplasia than has been previously reported. Since there is a strong correlation between a spinal lesion and scoliosis, these patients should be screened clinically for scoliosis.nnnLEVEL OF EVIDENCEnPrognostic study, Level II-1 (retrospective study). See Instructions to Authors for a complete description of levels of evidence.

Ultrasonography in developmental dysplasia of the hip.

→A safe, noninvasive method of imaging of the hip: it can be used both for diagnosis and to monitor treatment.nn→Provides advantages when combined with clinical examination: it can provide information on hip position, stability, and morphology.nn→More sensitive than clinical examination and therefore can be used to resolve the dilemma of whether to splint an unstable hip immediately or to delay treatment with the hope that transient instability will resolve spontaneously.nn→A consensus has not been reached concerning the best age for ultrasonographic screening.nn→Neonatal ultrasonography detects a high number of hips with possible instability that require follow-up studies.nn→Hip ultrasonography performed at four to six weeks of age is more accurate.nn→Substantial training and attention to technical details and evaluation of results are necessary to obtain reliable results.nnThe use of ultrasonography to examine the neonatal hip was introduced and developed by Graf39. It soon became apparent that ultrasonography could provide images of the soft-tissue components of the infant hip - that is, the cartilaginous components of the femoral head and the acetabulum, the joint capsule, and the labrum. Novick et al.83 and Harcke et al.56 introduced multiplanar ultrasonography to study the infant hip in the coronal and transverse planes.nnDevelopmental dysplasia of the hip is a term used to describe an abnormal relationship between the femoral head and the acetabulum. We use this term to describe dislocation, subluxation and instability when it is possible to dislocate or locate the femoral head in the acetabulum, and a whole array of abnormalities that express inadequate acetabular development. There is now ample evidence that ultrasonography can play a major role in the detection and management of developmental dysplasia of the hip in children younger than one year of age. In Europe it is performed by orthopaedic …

Parameters for Predicting Favorable Responses to Botulinum Toxin in Children With Cerebral Palsy

We sought markers for predicting a favorable outcome of botulinum toxin A injected to the lower-extremity muscles of 26 children with hemiplegic or diplegic cerebral palsy. Clinical assessment preceding and 1 month following injection included gross motor function measure, a modified Ashworth scale, and evaluation of range of motion of knee extension and ankle dorsiflexion. Response to treatment was classified based on a parent questionnaire. The 19 children (73%) considered by their parents as being good responders were compared to the 7 (27%) considered as being poor responders. In the good responders, the preinjection Ashworth scale (spasticity) was significantly higher (P < .05) and gross motor function measure scores (function) were lower (P < .05). Sixty-eight percent of the good responders were nonindependent walkers compared to 14% of the poor responders (P < .05). There were no differences in age, type of cerebral palsy, and dose of injection. An Ashworth scale indicating increased muscle tone, lower gross motor function measure scores, and nonindependent ambulatory status were predictive for a favorable response to botulinum toxin A injections and can guide patient selection and expectations of treatment outcome. (J Child Neurol 2002;17:272-277).

A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone.

CONTEXTnFibrous dysplasia (FD) is a rare skeletal disorder, resulting in deformity, fracture, functional impairment, and pain. Bisphosphonates have been advocated as a potential treatment.nnnOBJECTIVEnTo determine the efficacy of alendronate for treatment of FD.nnnDESIGNnTwo-year randomized, double-blind, placebo-controlled trial.nnnSETTINGnClinical research center.nnnPATIENTSnForty subjects with polyostotic FD (24 adults, 16 children). Subjects were randomized and stratified by age.nnnINTERVENTIONSnStudy drug was administered over a 24 month period in 6 month cycles (6 months on, 6 months off). Alendronate dosing was stratified: 40 mg daily for subjects >50 kg, 20 mg for 30-50 kg, 10 mg for 20-30 kg.nnnMAIN OUTCOME MEASURESnPrimary endpoints were bone turnover markers, including serum osteocalcin, and urinary NTX-telopeptides. Secondary endpoints included areal bone mineral density (aBMD), pain, skeletal disease burden score, and functional parameters including the 9-min walk test and manual muscle testing.nnnRESULTSnClinical data was collected on 35 subjects who completed the study. There was a decline in NTX-telopeptides in the alendronate group (P = .006), but no significant difference in osteocalcin between groups. The alendronate group had an increase in areal BMD in normal bone at the lumbar spine (P = .006), and in predetermined regions of FD (P < .001). There were no significant differences in pain scores, skeletal disease burden scores, or functional parameters between the groups.nnnCONCLUSIONSnAlendronate treatment led to a reduction in the bone resorption marker NTX-telopeptides, and improvement in aBMD, but no significant effect on serum osteocalcin, pain, or functional parameters.

Long-term effect of repeated injections of botulinum toxin in children with cerebral palsy: a prospective study

PurposeTo prospectively evaluate long-term effects of repeated botulinum toxin A (BTX-A) injections in children with cerebral palsy (CP).MethodsRepeated injections of BTX-A were offered to children with CP, according to clinical indications, for a maximum of four injections within a period of two years. Injections were administered into lower extremity muscles of 26 consecutive children (age 3.7xa0±xa01.2xa0years, 16 boys) with hemiplegic or diplegic CP. Clinical assessments before and one month following each injection included a gross motor function measure (GMFM), a modified Ashworth scale, and range-of-motion of knee extension and ankle dorsiflexion.ResultsTwelve children received two injections, six received three injections, five received one injection, and three received four injections. The most common reason for discontinuing treatment was the need for orthopedic surgery (nxa0=xa017). A long-term effect was demonstrated by a significant increase of the GMFM score before the first injection compared with the last injection for each patient (Pxa0<xa00.0001). There was no comparable change in the muscle tone or range-of-motion. The mean rate of GMFM change during the study was significantly higher than literature norms for CP children (13.2xa0vs. 5.37 per year, respectively, Pxa0<xa00.01). The increase of the GMFM score before and one-month after injection (short-term effect) was significantly higher after the first injection than after the last injection (Pxa0<xa00.05). Similar results were found for the Ashworth scale and popliteal angle.ConclusionsBotulinum toxin A injections have a long-term effect on gross motor function in children with CP even though the effect on muscle tone is short-term. The effect apparently declines with repeated injections, with most children benefitting from 2 to 3 injections.

The correlation of specific orthopaedic features of polyostotic fibrous dysplasia with functional outcome scores in children.

BACKGROUNDnPolyostotic fibrous dysplasia has a wide clinical spectrum, with substantial variation between patients in terms of orthopaedic manifestations, including the number of fractures, the degree of deformity of the limbs, and the presence of scoliosis. Data from bone scans, skeletal surveys, and records were correlated with the Pediatric Outcomes Data Collection Instrument scales to examine whether any specific facet of orthopaedic involvement could be related to functional abilities.nnnMETHODSnAll patients who were sixteen years of age or younger and who were part of an ongoing natural history study of polyostotic fibrous dysplasia (including McCune-Albright syndrome) were sent an age-appropriate Pediatric Outcomes Data Collection Instrument outcomes tool. The medical records and radiographs of the patients who returned forms were reviewed. Radiographic measurements of scoliosis, the femoral neck-shaft angle, and limb deformities were then performed. The extent of skeletal involvement with polyostotic fibrous dysplasia (disease burden) was assessed on bone scans with use of a validated tool. A chart review was performed to determine the fracture rate, the use of bisphosphonates, and the endocrine status. These measurements were correlated with the Pediatric Outcomes Data Collection Instrument scores.nnnRESULTSnThe outcomes tool was sent to twenty-seven patients and the completed instrument was returned by twenty patients, for a response rate of 74%. The parent-child form was filled out for twelve patients and the parent-adolescent form was filled out for eight patients. The mean standardized Pediatric Outcomes Data Collection Instrument scores for all twenty patients were lowest for sports (62; range, 14 to 100) and happiness (72; range, 25 to 100). Adolescents and parents disagreed with regard to sports (with adolescent scores being higher than parental scores) and pain (with parental scores being higher than adolescent scores). However, the overall global scores correlated well between the parents and the adolescents (r = 0.78, p = 0.03). The femoral neck-shaft angle correlated strongly with the Pediatric Outcomes Data Collection Instrument score for sports (r = 0.46, p = 0.03) but not for transfers. The bone scan scores for the lower extremity disease burden correlated with both the transfer scale (r = 0.76, p = 0.03) and the sports scale (r = 0.77, p = 0.02). Deformity of the limbs, the presence of scoliosis, the prevalence of endocrine dysfunction, and the number of fractures did not correlate with the Pediatric Outcomes Data Collection Instrument scores.nnnCONCLUSIONSnIn patients with polyostotic fibrous dysplasia, the loss of the normal femoral neck-shaft angle and the disease burden in the lower extremities appear to have the greatest effect on functional activity as measured with the Pediatric Outcomes Data Collection Instrument tool.

Bone-Grafting in Polyostotic Fibrous Dysplasia

BACKGROUNDnPolyostotic fibrous dysplasia is a skeletal disease that results from somatic activating mutations in the gene GNAS in skeletal stem cells, leading to proliferation of immature osteogenic cells with replacement of normal marrow and bone with fibro-osseous tissue. Lesions may cause bone deformity or fracture. In the surgical care of polyostotic fibrous dysplasia, the role of grafting and the optimal grafting material are not clear. The purpose of this study was to evaluate the long-term survival of bone-grafting procedures in subjects with polyostotic fibrous dysplasia over time.nnnMETHODSnThe operative reports and radiographs of a cohort of subjects with polyostotic fibrous dysplasia followed in a natural history study were reviewed. Twenty-three subjects (mean age at the time of enrollment, thirteen years [range, two to forty years]) with fifty-two bone-grafting procedures had a mean follow-up time of 19.6 years (range, twenty-nine months to forty-seven years). Kaplan-Meier life table estimates, Cox proportional hazard models, and t tests comparing means were performed to assess various aspects of graft survival.nnnRESULTSnKaplan-Meier curves showed a 50% estimate of survival of 14.5 years. Cox proportional hazards models showed no advantage comparing allograft with autograft or structural with nonstructural graft materials. The mean age of the patients was significantly greater (p < 0.001) in the subgroup of subjects in whom grafts were maintained over time (20.9 years) compared with the subgroup of patients whose grafts were resorbed over time (9.8 years).nnnCONCLUSIONSnBone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. The expectations of patients and surgeons should include the high probability of graft resorption over time with return of bone characteristics of fibrous dysplasia, particularly in younger patients. This suggests the maintenance of normal bone mechanics with implant support should be the priority of any surgical intervention.

A functional electrical stimulation system improves knee control in crouch gait

BackgroundCrouch gait is a major sagittal plane deviation in children diagnosed with cerebral palsy (CP). It is defined as a combination of excessive ankle dorsiflexion and knee and hip flexion throughout the stance phase. To the best of our knowledge, functional electrical stimulation (FES) has not been used to decrease the severity of crouch gait in CP subjects and assist in achieving lower limb extension.PurposeTo evaluate the short- and long-term effects of FES to the quadriceps muscles in preventing crouch gait and achieving ankle plantar flexion, knee and hip extension at the stance phase.MethodsAn 18-year-old boy diagnosed with CP diplegia [Gross Motor Function Classification System (GMFCS) level II] was evaluated. The NESS L300® Plus neuroprosthesis system provided electrical stimulation of the quadriceps muscle. A three-dimensional gait analysis was performed using an eight-camera system measuring gait kinematics and spatiotemporal parameters while the subject walked shod only, with ground reaction ankle foot orthotics (GRAFOs) and using an FES device.ResultsWalking with the FES device showed an increase in the patient’s knee extension at midstance and increased knee maximal extension at the stance phase. In addition, the patient was able to ascend and descend stairs with a “step-through” pattern immediately after adjusting the FES device.ConclusionsThis report suggests that FES to the quadriceps muscles may affect knee extension at stance and decrease crouch gait, depending on the adequate passive range of motion of the hip, knee extension, and plantar flexion. Further studies are needed in order to validate these results.

Influence of orthosis on the foot progression angle in children with spastic cerebral palsy.

We retrospectively assessed the effect of ankle-foot orthosis (AFO) on the foot progression angle (FPA) of 97 children with spastic cerebral palsy (CP) who had undergone comprehensive computer-based gait analysis both barefoot and with their orthosis, during the same session. The physical examination results and the gait study temporal and kinematic parameters comprise the study data. We focused on the peak FPA reached during stance and swing phases and at mid-stance and mid-swing, and also measured the transverse rotations of the pelvis, the femur and the tibia. AFOs improved gait, as reflected by improved temporal parameters, but they also increased internal rotation of the feet in diplegic CP children by 4.29 degrees for mid-stance, and by 3.72 degrees for mid-swing. The correlation between components of the rotational profile and FPA was significant for the diplegic group. AFOs did not produce any noteworthy differences between walking barefoot and walking with the brace in the hemiplegic group in what concerns FPA. Children with diplegic CP who use AFOs walk with increased internal FPAs in their orthoses. These findings might be explained by anatomical attributes as well as dynamic features during gait.

T1-weighted MR imaging of bone marrow pattern in children with adolescent idiopathic scoliosis: a preliminary study

Purpose Distinct normal physiological patterns of fat conversion in vertebrae were described both for children and adults. Our aim was to evaluate the T1-weighted bone marrow pattern of the vertebral bodies in various sites along the scoliotic spine of children with adolescent idiopathic scoliosis (AIS). Methods We retrospectively evaluated spine MRI studies of children with AIS. Scoliosis radiographs were assessed for type of curvature according to the Lenke classification. A paediatric neuroradiologist assessed the T1-weighted signal of vertebral bodies in comparison with the adjacent disc and distinct patterns of fatty conversion within the apical and stable vertebral bodies. Statistical assessment was performed. Results MRI study of the spines of 75 children with AIS were assessed, 59 (79%) of whom were female, with an age range of nine to 19 years. The relative overall T1-weighted signal intensity of the vertebral body bone marrow relative to the intervertebral disc was hyperintense in 76% and isointense in 24%. Fatty conversion grade of the stable vertebra was higher than the apex vertebra (p = 0.0001). A significant tendency to have more advanced fat conversion patterns in the apex vertebra up to age 13.5 years old compared with adolescents above that (p = 0.015) was seen. Conclusion This preliminary study suggests a different pattern of bone marrow conversion in AIS from the normal physiologic pattern described in the literature. Whether these changes are secondary to the biomechanics of the curved spine or may suggest that bone marrow maturation rate and content have a role in the pathogenesis of AIS remains to be further researched. Level of Evidence Level III (Diagnostic Study)