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Pediatr Neurol. 1994 Jul;11(1):50-6.

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

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1
Department of Pediatrics, Santa Casa School of Medicine, University of São Paulo School of Medicine, Brazil.

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.

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PMID:
7527213
DOI:
10.1016/0887-8994(94)90091-4
[Indexed for MEDLINE]

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