Focus on function: a case study on how translating complex medical topics and explaining diagnostic uncertainty changed the course of rehabilitation for a patient with non-traumatic spinal cord injury

Case Diagnosis: Thirty-eight-year-old man with longitudinally extensive cervicothoracic-spine transverse myelitis and optic nerve enhancement with preceding meningoencephalitis.

Case Description or Program Description: Patient with unremarkable medical history presented to inpatient rehabilitation with limb and trunk weakness with ataxia, proprioceptive deficits, urinary retention, and orthostatic hypotension after extensive neurological workup. He was admitted with working diagnosis of CSF inflammation with long tract cervicothoracic transverse myelitis and radiographic optic nerve enhancement of unknown etiology.

When asked on admission what he understood about his condition and diagnosis, he expressed lack of insight regarding the changes in his body. His worry regarding uncertain diagnosis clouded his ability to contextualize physical impairments and disease sequelae: neurogenic orthostatic hypotension, urinary retention, and nocturnal polyuria, which all required medical management.

Setting: Inpatient Rehabilitation

Assessment/Results: The differential diagnosis included neuromyelitis optica spectrum disorder; multiple sclerosis; myelin oligodendrocyte glycoprotein antibody disease; atypical viral meningoencephalitis with transverse myelitis; versus paraneoplastic syndrome.

CSF showed 373 WBCs, glucose 36, protein 296, and negative infectious panel; decreased CD4/CD8 ratio appeared on cytometry. Autoimmune encephalitis, NMO/MOG, ANA, and metagenomic sequencing were negative. MRI brain showed bilateral optic nerve enhancement and MRI spine showed long-segment cervicothoracic T2 hyperintensities.

On admission, his mobility required minimal-to-moderate assistance and ADLs required moderate-to-setup assistance; on discharge mobility improved to contact guard assist, and his ADLs ranged from touching-assist to independent.

Discussion (relevance): In coordination with the therapy team, patient-centered education was provided for each functional deficit. The diagnostic uncertainty was addressed empathetically with the patient, while including thorough review of prior testing and future workup plans. With improved understanding of his condition and focus on rehabilitation goals, the patient was empowered to overcome barriers to progress.

Conclusions: Helping patients view their physical deficits through the lens of function — focusing on personal goals — gives them agency to accept diagnostic uncertainty, enhance their understanding of complex conditions, and improve rehabilitation outcomes.