Congenital sensory neuropathy with anhidrosis

Abstract

A case of congenital sensory neuropathy with anhidrosis is described in a boy of 11 months of consanguine parents. He showed the typical picture of self-mutilations (biting off of the tip of the tongue), recurrent episodes of unexplained fever, and delayed motor and mental development. There was generalized analgia and failure to sweat on thermal, emotional, noxious, or the usual chemical stimuli. Local sweating at a low rate, but with normal sweat chloride concentration could be induced only by the simultaneous injection of acetylcholine and of adrenaline. The case is compared with six other published cases.