Congenital Insensitivity to Pain with Anhidrosis: Follow-up of 1 case

ABSTRACT

Congenital insensitivity to pain with anhidrosis (CIPA: a hereditary sensory and autonomic neuropathy, HSAN IV) is a rare disease characterized by the self-mutilation, bone fracture, multiple scars, osteomyelitis, joint deformities and anhidrosis. The pathophysiologic mechanism remains unknown. This is the report of a twelve years old boy who had been diagnosed as the CIPA at his age of five. Loss of unmyelinated and small myelinated nerve fibers have been noted in an abdominal skin biopsy. On follow up studies, no significant changes were noted in the clinical manifestations and in the findings of laboratory, radiologic and electrophysiologic studies when compared to the initial studies except for the minimally progressed neuropathic ankle joints. Long term follow up study including the sequential electrophysiologic examination and biopsy of nerve and muscle might be necessary to establish the natural course of the disease. Prevention of the injury should be emphasized for the good prognosis.