Congenital cutis laxa: report of a case

Congenital cutis laxa is a rare hereditary heterogeneous group of disorder of elastic tissue. It is characterized by abnormally loose skin with a reduction in elastic tissue throughout the dermis. Depending on the mode of transmission and phenotypic expression, congenital cutis laxa has been classified in four types: autosomal dominant; autosomal recessive: types I and II and X-linked recessive. We report a new born girl with the autosomal recessive form of congenital cutis laxa associated with visceral abnormalities. The out come for this form was fatal. The most molecular basis for CCL were known but the therapeutic options are still limited

[ leucinosis-Study of seven cases]

Maple syrup urine disease [MSUD] is an antosomal recessive metabolic disorder caused by decreased activity of this branched chain alpha-ketacid dehydrogenase. Work object is to clear the clinical, therapeutical and evolutive characteristics of this disease, through a retrospective study of seven patients identified over a 12 years period in Kairouan Pediatric department. The mean age of diseasis revelation was 7 days [2 to 12 days]. The consanguinity was found in 5 cases, neurological diseas dominate the clinical manifestations. The DNPH test was positive in five cases. The diagnosis was confirmed by the AAC in blood and OAC in urines. All the 7 new born died in a mean age of 21 days. The light incidence, problems of management and the poor prognosis underline the improtance of antenatal diagnosis