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                                       Details van artikel 4 van 12 gevonden artikelen
 
 
  Hereditary neuropathies with self-mutilation
 
 
Titel: Hereditary neuropathies with self-mutilation
Auteur: Natan Gadoth
Eliyah Mass
Verschenen in: Journal of pediatric neurology
Paginering: Jaargang 2 (2005) nr. 4 pagina's 205-211
Jaar: 2005-04-12
Inhoud: Although self-mutilation (SM) is not rare in the general population, the most common causes for this mode of destructive behavior are mental retardation and psychiatric ailments. There are 2 types of neuropathies with mutilation, those with spontaneous mutilation of tissues and the others in which the patients mutilate themselves. A number of hereditary disorders are associated with SM. Among the eight MIM (Mendelian Inheritance in Man) entries associated with SM, there are four conditions, which are associated with peripheral neuropathy (choreo-acanthocytosis,.acanthocytosis with neurological impairment, congenital insensitivity to pain with anhydrosis and the paroxysmal neuropathy of type I tyrosinemia). The other four (Tourette syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan phenotype with normal hypoxanthine guanine phosphoribosyle transferase and Cri-du-chat syndrome) are not associated with peripheral neuropathy. It is quite surprising that in the latest editions of the classical textbooks of pediatrics, pediatric neurology and adult neurology SM is mentioned only with regard to Lesch-Nyhan syndrome. In this paper, we describe our experience with a number of hereditary mutilating neuropathies and review some of the recent advances in the neurobiology of SM. The recognition and awareness of this outstanding clinical sign may be helpful in reaching a correct diagnosis and offering symptomatic treatment, to avoid potential tissue damage at an earlier stage of the disease. (J Pediatr Neurol 2004; 2(4): 205-211).
Uitgever: IOS Press
Bronbestand: Elektronische Wetenschappelijke Tijdschriften
 
 

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