HEREDITARY SENSORY AUTONOMIC NEUROPATHY - A CASE REPORT

ABSTRACT Hereditary Sensory Autonomic Neuropathies (HSAN) are rare inherited genetic disorders, affecting predominantly the sensory system and to a variable extent the autonomic nervous system . It consists of 5 main sub-types (type 1 to 5). Here we report two children from a family who presented in their 2nd decade with clinical features of sensory changes manifesting in the form of multiple painless ulcers, erosive lesions of distal phalanges in toes, mutilating arthritis , autonomic involvement in the form of loss of sweating with relative preservation of motor functions . Electro diagnostic tests revealed absent Sensory Nerve Action potentials (SNAPs) and normal Compound muscle action potential (CMAP s ). The mode of inheritance age at onset , clinical phenotype were suggestive of HSAN type 2.The aim of reporting this rare disorder is to recognize this disorder early so as to minimize the disabling complications as there is no treatment.