Spina Bifida Occulta, Syringomyelia, and Diastematomyelia in a Toddler: A Two-Year Case Report

Spinal dysraphisms are a heterogeneous group of congenital spinal cord anomalies resulting from defective neurulation. They include both open and closed forms, with spina bifida (SB) being the most clinically recognized. These conditions frequently coexist with other anomalies, such as syringomyelia and diastematomyelia, significantly complicating clinical presentation and management. We report the case of a male neonate born at term with a lumbar spinal defect consistent with SB occulta. Initial evaluation revealed a closed, skin-colored lesion with preserved neurological function. Early spinal magnetic resonance imaging (MRI) showed vertebral arch defects, a dorsal cystocele and syringomyelia at the L1-L2 level. The patient underwent early neurosurgical repair of SB at 5 days of age, followed by cyst drainage at 1 year of age when lower extremity weakness developed. Subsequent imaging revealed persistent syringomyelia and diastematomyelia, necessitating additional surgical intervention for spinal cord mobilization. The coexistence of these complex anomalies required multiple staged interventions and close longitudinal monitoring. Complex spinal dysraphism demands a multidisciplinary approach with early surgical management and long-term follow-up to prevent neurological deterioration. This case reinforces the importance of timely diagnosis and staged surgical intervention in improving patient outcomes.