Hereditary sensory and autonomic neuropathy type I: A case presenting with acral neuropathic ulcers

Abstract

Hereditary sensory and autonomic neuropathies; are a group of genetic disorders characterized by pain insensitivity, normal muscle capacity and reflexes with acral trophic ulcers, deformities and osteomyelitis. In the electrophysiological studies the disease in which sensory-motor neuropathies observed is classified in five groups clinically and genetically- Hereditary sensory and autonomic neuropathy Type I is characterized by sensorial loss in distal of the lower extremities, chronic perforating ulcers in feet and progressive destruction in bone structures. In most of the cases accompanying sensorial deafness, atrophy of the peroneal muscles and abnormalities of perspiration are seen. Motor nerve action potentials are normal, but the sensorial nerve action potentials are known to be decreased. Herein, a 43-year-old woman presented with acral neuropathic ulcers and complaints of vertigo, nausea and abnormal perspiration for seven years is represented. The case was diagnosed with hereditary and sensorial autonomic neuropathy type I with the all accompanying clinic, neurologic and electromyelographic features. The differential diagnosis of the patient is discussed; who was diagnosed lately as the disease is rarely seen. Besides, the value of the dermatological findings was also emphasized here in the process of the diagnosis of this rare disease. Copyright © 2012 by Türkiye Klinikleri.