Résumé
Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation. Recurrent hyperpyrexia and anhydrosis are seen in patients as a result of a lack of sweat gland innervation. Self-mutilation and insensitivity to pain result in orthopedic complications and patients undergone recurrent surgical interventions with anesthesia. However, these patients are prone to perioperative complications such as hyperthermia, hypothermia, and cardiac complications like bradycardia and hypotension. We report a 5-year-old boy with hereditary sensory autonomic neuropathy type IV, developing hyperpyrexia and cardiac arrest after anesthesia
Sujets)
Humains , Mâle , Neuropathies héréditaires sensitives et autonomes/chirurgie , Anesthésie générale/effets indésirables , Hypohidrose/étiologie , Ostéomyélite/diagnostic , Analgésie congénitaleRésumé
We describe a case of hereditary sensory and autonomic neuropathy (HSAN) type II in a child with a penetrating foot ulcer, acral sensory impairment, and anhidrosis. This is the first documentation of HSAN in Sri Lanka.
Sujets)
Potentiels d'action , Enfant , Diagnostic différentiel , Ulcère du pied/étiologie , Neuropathies héréditaires sensitives et autonomes/complications , Humains , Hypohidrose/étiologie , Mâle , Neurofibres myélinisées/anatomopathologie , Neurones afférents/anatomopathologie , Nerf sural/physiopathologie , Nerf ulnaire/physiopathologieRésumé
El síndrome de Bazex-Dupré-Christol es una genodermatosis rara, caracterizada por la presencia de atrofodermia folicular, hipotricosis congénita, hipohidrosis y múltiples carcinomas basocelulares de aparición precoz. Se considera una condición preneoplásica que se hereda ligada al cromosoma X y cuya alteración básica parece estar a nivel de un gen involucrado en el desarrollo del folículo piloso y la formación de tumores cutáneos. Presentamos un caso de este síndrome y se hace una revisión del tema