Résumé
This is a retrospective study about 49 cases of xeroderma pigmentosum [XP]. The goal was to determine the clinicalfeatures of XP in Tunisia. Our study revealed the predominance of a moderate form. Malignant skin tumors showed early. Squamous cell carcinoma [SCC] remained the most frequent skin malignancy in all clinical forms. Neurological abnormalities were more frequent in the moderate form. Mental retardation and peripheral neuropathy were the most common signs
Sujets)
Humains , Mâle , Femelle , Tumeurs cutanées , Carcinome épidermoïde , Déficience intellectuelle , Neuropathies périphériques , Études rétrospectives , Oeil/physiopathologieRésumé
We report a case of a 24 years old female who presented a glue sniffing neuropathy. Symptoms began with progressive weakness which initially involves the lower extremities. Neurological examination noted a decreased Achille reflexes. Nerve conduction studies showed a slowing nerve conduction velocities, a delayed F waves and distal latencies and diffuse nerve conduction blocks. The disease continued to worsen beyond two weeks after stopping intoxication with persistant evidence of ongoing demyelination.40 days later we have noted an improvement in nerve conduction velocities and in conduction blocks, neurophathy is the msot frequent glue sniffing complications, there is a clinic and electric improvement of the polyneuropathy after stopping intoxication