M-F Ben Dridi

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Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and(More)
The pediatric forms of Wegener granulomatosis (WG) are rare. The clinical picture and the profile have specificities compared to those of adults. We report a case of a girl aged of four years and a half who presented initially with a clinical picture of Henoch Schönlein purpura. Physical examination revealed additionally to purpura, scabby lesions on the(More)
BACKGROUND Several distinct forms of osteopetrosis have been identified. Some of the autosomally recessive inherited forms are benign, much like the autosomal dominant form. Others are more malignant. PATIENTS The clinical data, skeletal radiographs, histological features and histories of 32 children with osteopetrosis were analyzed retrospectively. (More)