Background: Patients with rare disorders or previously undocumented conditions with a genetic basis often go undiagnosed for many years despite extensive evaluations under skilled physicians in their communities and tertiary care centers. These patients are often high- volume consumers of healthcare and a frequent source of hospital admissions and readmissions. Without a clear diagnosis they [...]

Case Presentation: A 66-year-old female presented to the ED with generalized weakness, tremor, diplopia, and slurred speech. The patient’s medical history included TIA, hyperlipidemia, metabolic syndrome, anemia, BPPV, fibromyalgia, syringomyelia, DDD and depression. Notably, this patient was diagnosed with bilateral neuropathy two months prior and self-reportedly experienced gait abnormalities one month prior. Initial exam findings [...]

Case Presentation: An 84-year-old man from China with a history of remote gastric cancer with prior subtotal gastrectomy, chronic hepatitis B virus infection on antivirals (without cirrhosis, normal liver function tests) was brought to the hospital after his family found him to be obtunded. At baseline he was independent in all iADLs. Physical exam showed [...]