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Washington University Experience | MYELIN (IMMUNE-MEDIATED) | MS - Brainstem & Cerebellum | 1A0 Case 1 History
Case 1 History ---- In August 2009, the patient experienced the sudden onset of blurred vision, ataxia, and slurred speech. Initial MRIs showed multiple areas of T2 signal abnormality involving inferior frontal lobes, pons, midbrain, and basal ganglia. He was thought to have acute disseminated encephalomyelitis (ADEM), but did not respond to treatment with steroids. On physical examination in 2010, the patient had multiple positive findings, including difficulty with short-term recall, concentration, and word generation; right hand weakness in pyramidal pattern and pronator drift; upper motor neuron signs, including increased tone in right leg, brisk reflexes in bilateral lower extremities, upgoing Babinski in R foot, and 5 beats of clonus with right ankle jerk. In addition, there was evidence of isolated extra-ocular muscle paresis and nystagmus with directional component, which improved when looking to side that caused double vision. MRI showed T2 hyperintense lesions involving the periaqueductal gray matter of the lower midbrain, left > right cerebral peduncles of the upper midbrain, bilateral hypothalamus and basal ganglia, and the left corona radiata. Three lumbar punctures were normal, by report. He was screened for West Nile virus, cytomegalovirus, arbovirus, cysticercosis, coccidioidomycosis, HIV and Lyme disease, for which he was negative. Paraneoplastic screening was negative. Angiotensin-converting enzyme (ACE) levels, anti-SSA, anti-SSB, antinuclear antibody (ANA), ribonucleic protein (RNP), and liver function tests were unremarkable. Autoimmune antigens for NMDA and AMPA were negative. CSF studies showed the presence of oligoclonal bands unique to the CSF. Given the presence of patchy enhancement of his MR lesions and the presence of oligoclonal bands, IVIg, plasma exchange, and Rituxan courses were all empirically administered. He was empirically treated for Whipple's disease (although small bowel biopsy was reportedly negative, as was a Whipple's PCR). Work-ups for infectious etiologies, toxic/metabolic disorders, neoplastic/paraneoplastic phenomena, autoimmune disorders, mitochondrial dysfunction, and vasculitis have been negative to date. The patient's ataxia and dysarthria continued to progress to the point of immobility. A PEG tube was placed for nutritional support. His short-term memory was impaired and he was emotionally labile. He died at home. This workup was performed at an outside medical center and we were consulted concerning findings at autopsy.
