Affiliations: Department of Neurology, Meir General Hospital, Kfar
Saba, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel | Department of Pediatric Dentistry, Goldschleger School
of Dental Medicine, Tel Aviv University, Tel Aviv, Israel
Note: [] Correspondence: Natan Gadoth, M.D., Department of Neurology,
Meir General Hospital, Kfar Saba, 44281 Israel. Tel: 972-9-7472828, fax:
972-9-7471317. E-mail: [email protected]
Abstract: 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).
