Hereditary sensory and autonomic neuropathy type II in two brothers, a close differential of leprosy

Hereditary sensory autonomic neuropathy (HSAN) falls under heritable neuropathies and is often misdiagnosed as leprosy leading to physical, emotional and financial burden to patients and their families. It presents as sensory and autonomic dysfunction leading to recurrent skin ulcers, scars, deformities of anaesthetic areas, Charcot joints, and decreased sweating. We report similar findings in an 11-year-old boy and his 10-year-old brother, in the form of ulcer, multiple healed scars and amputation of toes with reduced perception of touch, pain, temperature and vibration. No peripheral nerves were thickened, motor examination was within normal limits along with negative slit skin smear. Nerve conduction study revealed sensory polyneuropathy. X-ray of ankle joint showed degenerative changes. A diagnosis of HSAN type II with Charcot joint was made highlighting the importance of clinical history taking and physical examination. Parents were counselled regarding the management.