Attenzione attenzione!! Il post è in inglese (scientifico e quindi di facile comprensione secondo me), se non lo conoscete, scusate se so stronza, ma si va poco lontano..
Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency.
Vardy PA, Greenberg LW, Kachel C, de Leon GF.
Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To date, 11 cases have been reported. We have reviewed the literature and are describing two girls with CIPA, born to consanguine Jewish parents of Moroccan origin. Immunoglobulin deficiency has been reported in CIPA but an immunologic investigation on one of our cases showed only an early and transient deficiency of IgA. The presence in the family of a brother with ataxia telangiectasia and complete absence of IgA would seem to be irrelevant and it seems probable that the parents are heterozygotic for two disparate autosomal recessive syndromes.
PMID: 92193 [PubMed - indexed for MEDLINE]
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)
Rosemberg S, Marie SK, Kliemann S.
Department of Pediatrics, Santa Casa School of Medicine, University of São Paulo School of Medicine, Brazil.
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.
PMID: 7527213 [PubMed - indexed for MEDLINE]
Congenital insensitivity to pain with anhidrosis in a 2-month-old boy.
Matsuo M, Kurokawa T, Goya N, Ohta M.
In a 2-month-old boy with congenital insensitivity to pain and anhidrosis, the initial symptom was recurrent fever of unknown origin. After eruption of the first teeth, self-mutilation of the tongue was limited by extraction of the teeth. Unmyelinated fibers were essentially lacking, and the number of small myelinated fibers was decreased in sural nerve. This case is the youngest to be diagnosed and the first one in which nerve biopsy clearly showed the characteristic findings.
PMID: 6167904 [PubMed - indexed for MEDLINE]
[Difficulty in the management of congenital insensitivity to pain]
[Article in French]
Redouani L, Léauté-Labrèze C, Ramirez de Villar S, Taïeb A, Sarlangue J.
Unité de dermatologie pédiatrique, hôpital Pellegrin-Enfants, Place Amélie-Raba-Léon, 33076 Bordeaux, France.
We report a case of hereditary sensitive neuropathy associated with insensitivity to pain in an infant. CASE REPORT: The girl was born after a normal full term pregnancy. She was hospitalized in the neonatal period because of hypotonia and recurrent cyanotic episodes due to false passage. The diagnosis of insensitivity to pain was suspected at nine months of age, as parallel with dentition, multiple mutilations of the tongue and the fingers were observed. The diagnosis was confirmed by biopsy taken from the sural nerve which showed a rarefaction of small myelinated fibres whereas unmyelinated fibres remained unaltered. At the age of six years, the general condition was good and the neurologic developement was satisfactory, neurotrophic and urologic complications currently being the main problem. CONCLUSION: A multidisciplinary and specialized care associated with parental compliance was necessary to minimize the complications of this potentially severe disorder.
PMID: 12162159 [PubMed - indexed for MEDLINE]
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Io la conoscenvo già... ho sempre desiderato avere questa malattia!
RispondiEliminaBrutte teste di cazzo io conosco una persona che ne è affetta e ha una vita orribile. Voi non sapete quello che dite.
RispondiEliminaè una malattia orribile! la maggior parte dei bambini affetti da Cipa muoiono in tenera età perché cadendo, tagliandosi, si fanno del male e non se ne accorgono. Potresti stare a dormire, sbattere la tempia contro il comodino, non accorgertene e morire dissanguato. Bello è?
RispondiEliminaanche io concordo.. è orribile il mio amico ce la!!! deve fare attenzione per tutto... non può essere abbraciato a lungo perchè si surriscalda o deve stare attento quando prende il sole.. se corre troppo potrebbe rompersi un piede e non accorgesene quando cade deve sempre controllere se è intero cioè corre subito al pronto soccorso... è una cosa orribile... io e i miei amici lo aiutiamo sempre quando siamo con lui perchè praticamante è inconsapevole di quello che succede nle suo corpo.. e vi dico che è veramente brutto..
RispondiElimina