Congenital Indifference to Pain with Anhidrosis (Familial Sensory Neuropathy Type-IV) in Siblings

Abstract

Congenital indifference to pain with anhidrosis is a rare syndrome consisting of the following ;(1) generalized analgesia from birth;(2) recurrent unexplained high fever;(3) neurogenic anhidrosis; and (4) mental retardation.
This syndrome is now classified as “familial sensory neuropathy type-IV”. Only ten or more cases have been reported since Nishida described the first case in 1951. Loss of small neurons of dorsal root ganglia, lack of small fibers in the dorsal roots, and absence of Lissauer's tract were described at autopsy case by Swanson at 1965, but its pathogenesis is poorly understood.
The present report described 2 mentally retarded sibling girls, 4-year-8-month and 2-year-10-month old, with recurrent episodes of unexplained high fever, repeated traumatic injuries and burns, and self-mutilating behavior. They were slender and hypotonic. The elder sister had only one tooth, because of spontaneous extraction. She had Charcot's joints at ankles. Her anhidrosis was not improved by acetylcholine injection. Motor and sensory conduction velocities were at the lowest level of the normal range. The skin biopsy was performed without anesthesia, and showed histologically a diminution of secretory portion of sweat glands, which was considered to be a secondary change of the sensory neuropathy.
Clinical symptoms of both patients, including recurrence of high fever, self-mutilation and delayed mental development, were improved with age.