Table of Contents
Washington University Experience | MYELIN (IMMUNE-MEDIATED) | MS - Optic Nerves | 9A0 Case 9 History
Case 9 History ---- In August 2009, the patient began experiencing blurred vision, ataxia, and slurred speech two weeks after returning from a business trip in Colombia. His wife reported that the onset of symptoms were sudden and had progressively worsened. However, two to three years prior, he had exhibited worsening depression, anxiety, and disinhibition, and was diagnosed with bipolar disorder. He was admitted to an outside hospital in early September 2010. 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. Extensive workup was conducted. 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. Vitamin E, copper, and ceruloplasmin serologies were also within normal limits. CT angiogram was negative. Autoimmune antigens for NMDA and AMPA were negative. CSF studies have been unremarkable other than 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 are negative. Other past medical history included a diagnosis of cardiomyopathy in 2006, thought to be of viral etiology, which resolved by mid-2007. Per his wife, his ejection fraction was 60% on an echocardiogram performed in 1/2010. He has had continuous and severe weight loss. He was a former football player with history of multiple concussions. He has a paternal uncle with bipolar disorder and a maternal grandfather with Parkinson’s disease. 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.
