Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report

Abstract

Lipomyelomeningocele (LMMC) is a rare form of closed spinal dysraphism arising from primary neurulation defects, characterized by a lipomatous mass that anchors the spinal cord. Early diagnosis is critical to prevent progressive neurological deterioration; however, in resource-limited settings, detection is often delayed. We report the case of a nine-year-old girl with a congenital lumbosacral mass identified at birth but underestimated during the initial neonatal assessment. Over time, she developed progressive gait disturbances and right equinovarus deformity. Magnetic resonance imaging performed later revealed a lumbosacral LMMC with tethered cord and occult spina bifida. The patient underwent a 15-hour surgical procedure consisting of LMMC excision and cord untethering, with no intraoperative complications. Postoperatively, she presented with preserved motor strength, residual hypoesthesia in the lower limbs, and bladder management with neuromodulation. At two-week follow-up, she showed stable neurological function, improved gait with rehabilitation, and satisfactory wound healing. This case underscores the importance of recognizing lumbosacral cutaneous stigmata as markers of occult spinal dysraphism, highlights the challenges associated with delayed diagnosis, and emphasizes the need for a multidisciplinary approach in the management of complex surgical cases. Furthermore, it reflects the global epidemiological burden of neural tube defects estimated at 18.6 per 10,000 live births and the disparities in diagnosis and access to specialized care in rural areas, reinforcing the importance of improving neonatal screening, the availability of imaging studies, and healthcare provider training to reduce preventable disability.