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.
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