Assistant Professor Baylor College of Medicine Houston, Texas, United States
Case Diagnosis: Multiple sclerosis manifesting as new neurological deficits in a pediatric patient with myelomeningocele
Case Description: A 9-year-old female with past medical history of sacral level myelomeningocele with shunted hydrocephalus developed bilateral lower extremity numbness distal to her knees three months prior to her scheduled spina bifida clinic appointment. Numbness was accompanied by impaired balance and a tendency to drag her toes, especially as she fatigued. She denied acute trauma, fever, recent infections, nausea, vomiting, or any changes to her bowel or bladder function. Physical examination done via video was significant for slap gait, mild toe drag, difficulty with heel walk, poor balance, and patchy sensation of her lower legs. Cystometrogram noted slightly higher bladder pressure compared to her baseline. Magnetic resonance imaging (MRI) of her brain and spine were significant for numerous demyelinating plaques with several lesions demonstrating active demyelination consistent with multiple sclerosis. Following immediate admission to the hospital, she received intravenous methylprednisolone and rituximab, resulting in subsequent improvement in her numbness.
Discussions: Changes in gait, sensation, and bowel and/or bladder function in a patient with myelomeningocele and ventriculoperitoneal shunt are concerning for the presence of tethered cord syndrome, syringomyelia, or shunt malfunction. MRI of the spine is the preferred imaging modality for the first two whereas plain radiography and computerized tomography scan of the head are used more for the latter. Imaging demonstrating dissemination in time and space, in combination with clinical correlation, ultimately revealed diagnosis of multiple sclerosis for our patient as per the McDonald Criteria. Disease modifying therapy was initiated in addition to steroid given her high disease burden.
Conclusions: This case highlights the importance of careful examination and maintenance of broad differential diagnosis of new neurological changes in a patient with myelomeningocele.