Pure autonomic failure followed by amyotrophy

Abstract

Features of autonomic dysfunction may develop late in amyotrophic lateral sclerosis (ALS), but pure autonomic failure with subsequent amyotrophy has not been recognized. We report the rare combination of pure autonomic failure followed by gradually progressive, isolated anterior horn cell disease. The patient initially presented at age 40 years with orthostatic dizziness and pain in her cervico-occipital and shoulder (coat hanger) region (appendix E-1 on the Neurology Web site at www.neurology.org). There were no additional neurologic symptoms. No relevant family or medical history was noted. Nocturia, dysphagia, and postprandial hypotensive symptoms developed 5 years later. Symptoms slowly progressed over 20 years. Orthostatic hypotension was ameliorated by a combination of fludrocortisone, midodrine, and octreotide. Detailed serial autonomic function tests1 indicated pure autonomic failure. She had severe orthostatic hypotension (205/119 mm Hg supine, to 74/52 mm Hg standing) on head-up tilt to 60o1 (table E-1). Pressor responses to sustained handgrip, mental arithmetic, and cutaneous cold were impaired. She had postprandial and post-exercise hypotension. There was no heart …