Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

Pediatr Neurol. 1994 Jul;11(1):50-6. doi: 10.1016/0887-8994(94)90091-4.

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA, hereditary sensory and autonomic neuropathy type IV) is an exceedingly rare disease. Only 31 cases have been reported. We report a 4-year-old girl with CIPA and include a complete review of the literature. CIPA is a severe autosomal recessive condition that leads to self-mutilation in the first months of life and to bone fractures, multiple scars, osteomyelitis, joint deformities, and limb amputation as the children grow older. Mental retardation is common. Death from hyperpyrexia occurs within the first 3 years of life in almost 20% of the patients. Ultrastructural and morphometric studies of the peripheral nerves demonstrate a loss of the unmyelinated and small myelinated fibers. The actual physiopathologic mechanism of this developmental disorder remains unknown.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Axons / pathology
  • Axons / physiology
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Female
  • Genes, Recessive
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Hereditary Sensory and Autonomic Neuropathies / pathology
  • Hereditary Sensory and Autonomic Neuropathies / physiopathology
  • Humans
  • Hypohidrosis / genetics*
  • Hypohidrosis / pathology
  • Hypohidrosis / physiopathology
  • Nerve Fibers / pathology
  • Nerve Fibers / physiology
  • Nerve Fibers, Myelinated / pathology
  • Nerve Fibers, Myelinated / physiology
  • Neurologic Examination
  • Pain Insensitivity, Congenital / genetics*
  • Pain Insensitivity, Congenital / pathology
  • Pain Insensitivity, Congenital / physiopathology
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology