[Neurological abnormalities in xeroderma pigmentosum].

INTRODUCTION

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.

METHOD: 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).

CONCLUSION

This difference in a group of Tunisian patients confirms the heterogeneous nature of XP and is probably due to genetic heterogeneity.