A 6-Year-Old Boy with Generalized Weakness and Inability to Walk |Biomedgrid

A 6-year-old, non-verbal boy with global developmental delay and autism presented with acute onset of weakness, inability to walk, and decreased energy. His exam was consistent with an upper motor neuron lesion that localized to the cervical spinal cord. MR spine showed extensive edema involving the medulla and upper cervical cord to the C5 level and intraparenchymal spinal cord hemorrhage at the C1-C2 level with enhancement. MR brain showed mild bilateral optic/perioptic enhancement. Therefore, the impression was concerning for autoimmune or para-infectious myelitis and he was initially treated with high-dose steroids. CSF studies, infectious work-up, and autoimmune antibodies were negative. Unexpected and significant improvement of motor function and energy within 48 hours of admission, as well as concern that spinal cord hemorrhage was unusual for inflammatory disease, led to re-evaluation for underlying etiology. A CT head and neck was obtained and showed the ultimate diagnosis of atlantoaxial subluxation with os odontoideum which was treated with surgical fixation. It is important to recognize when unexpected progression of a clinical presentation or unusual features of radiographic findings warrant re-evaluation. This is especially pertinent when caring for our most vulnerable children with complex medical histories and developmental delay including limited verbal communication leading to difficulty interpreting history, symptoms, and exam findings.