[Neurological abnormalities in xeroderma pigmentosum].
BACKGROUND
Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by abnormal sensitivity to sunlight which results in pigmentary changes, telangiectases, keratoses and eventually carcinomata. Additional neurological complications can be associated. The aim of our study was to analyze particularities of neurological abnormalities of Tunisian patients.


METHODS
We conducted a retrospective study in 62 patients suffering from XP included during the period 1992-2007. Patients were aged from 1 to 64 years (mean age: 17.6 +/- 11.4 years). Thirty patients were female and 32 were male. The patients had severe (n=16), variant (n=15) and moderate (n=31) XP.


RESULTS
Neurological abnormalities were observed in 21 patients (33.9%). Mental retardation was observed in 15 of the 21 patients, pyramidal syndrome in five, cerebellar syndrome in two, extrapyramidal syndrome in two, microcephalia in two, choreoatetosis in three cases and a peripheral neuropathy in eight. No neurological disorder was observed in the XP-variant patients. Neurological abnormalities were more frequent in the patients with moderate XP (n=17, 64.5%) than with severe XP (p=0.051).


CONCLUSIONS
This difference in a group of Tunisian patients confirms the heterogeneous nature of XP and is probably due to genetic heterogeneity.
El Fékih
N
N
Service de dermatologie, hôpital Charles-Nicolle de Tunis, Tunis, Tunisie. fekih.nadia@planet.tn
Fredj
M
M
Aounallah-Skhiri
H
H
Fazaa
B
B
Zghal
M
M
Ridha Kamoun
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000150:complications*; D012189:Retrospective Studies; D014416:Tunisia; D014983:Xeroderma Pigmentosum / Q000150:complications*; D055815:Young Adult