Hereditary Sensory and Autonomic Neuropathy: Case Report and Discussion

Abstract

Hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of diseases involving the peripheral nervous system. Patients present with profound distal sensory loss and variable degrees of autonomic disturbances. Multiple subtypes have been defined based on clinical symptoms and genetic testing. We present a case report of a nine month-old female with recurrent hand lesions and an absent response to noxious stimuli who was ultimately diagnosed with HSAN. A review of the literature and discussion of the pathogenetic mechanisms, current treatment, and future therapies for HSAN are also provided.