[Diagnostic strategy of mucopolysaccharidosis type I in Tunisia]. / La mucopolysaccharidose de type I: stratégie diagnostique en Tunisie.

A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase activity (IDUA). The most common mutation (p.Gln 70 X, p.Trp 402X and p.Pro 533 Arg) were researched by an enzymatic restriction and sequencing of the IDUA gene. Enzymatic and urinary diagnostics suggested a MPS I phenotype. The patient investigated had the mutation p.Pro 533 Arg in the homozygous status, whereas his parents were heterozygous for this mutation.

[Report of a case of Lyell syndrome]. / A propos d'un cas de syndrome de Lyell.

Toxic epidermal necrolysis (TEN) is a rare drug-induced disease characterized by extensive epidermal destruction. We reported here a case of Lyell syndrome which happened few hours later after treatment associating lincomycine chlorhydrate with nonsteroidol anti-inflammatory drugs. The 28-year-old female patient developed many visceral complications with biochemical and haematological disorders. This syndrome is a dermatological emergency whose vital prognosis is displayed.