CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (HEREDITARY SENSORY and AUTONOMIC NEUROPATHY TYPE-IV)

CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (HEREDITARY SENSORY and AUTONOMIC NEUROPATHY TYPE-IV)

Autor Rosemberg, S. Google Scholar
Marie, SKN Google Scholar
Kliemann, S. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Resumo 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. CIBA 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.
Idioma Inglês
Data de publicação 1994-07-01
Publicado em Pediatric Neurology. New York: Elsevier B.V., v. 11, n. 1, p. 50-56, 1994.
ISSN 0887-8994 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 50-56
Fonte http://dx.doi.org/10.1016/0887-8994(94)90091-4
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:A1994PC74200010
Endereço permanente http://repositorio.unifesp.br/handle/11600/25417

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