Neuromuscular Case Vignettes

Case 15: 57 year old man with gait disorder and ptosis

A 57 y/o diabetic African American man presented with intermittent weakness of lower extremities with “legs giving out” . Over a period of 9 months, the weakness became more constant with difficulty initiating gait and getting up from a chair, and he started to have intermittent upper extremity weakness such as difficulty reaching out to objects, and intermittent choking. In the previous 2 months prior to admission he had developed lower volume speech, intermittent shortness of breath, bilateral eyelid droopiness but no double vision, tingling in the feet, dryness in the mouth and urinary frequency.

His past medical history was significant for borderline diabetes, hepatitis C virus which was diagnosed 10 years before, unclear how it was treated, hemochromatosis, which was treated with previous phlebotomies, hypertension, depression , duodenal ulcer and H pylori infection. He was a 1 pack per day smoker for 20 years, had history of heavy drinking and intravenous illicit substance use, but was abstinent for alcohol and drugs for years.

His previous Workup included B12, serum protein immunoelectrophoresis, CPK, HIV and Lyme titers, ACE and homocysteine levels, Ach R  binding Ab, which were are negative or normal. MRI of Brain was unremarkable; MRI of cervical spine was negative except for mild-moderate multilevel degenerative changes. EMF done in outside facility showed diffuse denervation consistent with either poly radiculopathy  or motor neuron disease. Spinal tap demonstrated WBC count of 3/ μL, RBC count of 4 /μL, glucose of 47 mg/dl ,protein of 57 mg/dl , VDRL and Lyme negative. ALS was suspected for him so additional workup done for him.

Click here for exam and workup.