The spectrum of musculoskeletal problems in lipomyelomeningocele

Abstract

Purpose Patients with lipomyelomeningocele (LMMC) represent a unique population within the spectrum of spinal dysraphism. The natural history of LMMC remains poorly defined. The description and prevalence of the presenting orthopaedic clinical signs and symptoms for LMMC have been infrequent and often documented only in general terms. The goal of this study is to define the patterns and prevalence of presenting clinical musculoskeletal signs and symptoms in LMMC patients. Methods This study was a retrospective review of charts of all patients identified as having LMMC in our spina bifida clinic. Patient charts with incomplete data or diagnoses other than LMMC were excluded from the analysis. Data collected included age at initial tethered cord release (TCR); repeat TCR; limb length discrepancy; foot deformities; asymmetry of motor and sensory deficits; presence of scoliosis; orthotic needs; assistive devices; functional status. Results We identified 32 patients with LMMC (21 female and 11 male patients). The majority of patients had their primary TCR by B1 year of age (59 %), with 22 and 19 % having primary TCR at ages 1-15 and [15 years, respectively. Fifteen patients had at least one repeat TCR, with ten of these having more than one repeat TCR. A significant relationship was noted between low back/ radicular pain and repeat TCR (p \ 0.001). Ten patients (31%) had a limb length discrepancy of[2.5 cm, and 53 % of patients had asymmetric involvement. Nine patients (28 %) had scoliosis of whom only one required operative treatment. Fifteen patients had foot deformities. Thirteen patients (41 %) had two or more orthopaedic procedures in addition to other neurologic or urologic procedures. Conclusion The presenting musculoskeletal clinical signs and symptoms in patients with LMMC are uniquely different in terms of both pattern and frequency compared to myelomeningocele and other forms of spinal dysraphism. We noted a high prevalence of asymmetrical involvement, a high operative burden, and a high rate of repeat symptomatic tethered cord syndrome requiring TCR. As previously noted by others, TCR in LMMC does not prevent long-term functional deterioration. These findings may be important to our colleagues providing counsel to their patients with LMMC and to their families.

Caudal Regression Syndrome—A Narrative Review: An Orthopedic Point of View

“…Foot deformities may be accompanied by contractures and clawed toes. The image of the feet is similar to the deformities found in patients with myelomeningocoele and spinal dysraphism [ 74 , 75 ]. In patients with tethered cord syndrome, foot alignment may deteriorate with age with increasing neurological deficits.…”

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

“…In mouse and humans, spina bifida occulta has largely been described as a result of failure of secondary neurulation [ 3 , 215 ]. However, much has been described of the severity of lipomyelomeningocele [ 131 , 248 ] in comparison to the somewhat neurologically unperturbed tethered cord phenomenon which is brought on by trapped nerves due to missing vertebral arches [ 133 ]. What is evident is that, irrespective of whether or not there is skin covering the neural tube defect lesion, the severity of the condition depends on the level where the site of the lesion is located.…”

Evaluation and management of tethered cord syndrome in occult spinal dysraphism: Recommendations from the international children's continence society

“…Scoliosis may result from vertebral anomalies associated with OSD or as manifestations of progressive spinal cord dysfunction related to TSC . Progressive atypical scoliosis in older children, without a cutaneous lesion, is a common presentation that leads to the diagnosis of OSD.…”

“…Scoliosis may result from vertebral anomalies associated with OSD or as manifestations of progressive spinal cord dysfunction related to TSC. 5,97 Progressive atypical scoliosis in older children, without a cutaneous lesion, is a common presentation that leads to the diagnosis of OSD. SCU performed before significant curvature development may result in improvement in spinal deformity, particularly before full skeletal maturation.…”