RESUMO
INTRODUCTION: The capillary hyperpermeability syndrome is a rare disease that should be suspected in the presence of recurrent generalized edema without obvious cause, which may be idiopathic or secondary. CASE PRESENTATION: In this case, we report a Clarkson syndrome secondary to an acute leukemia affecting a 4-year-old child admitted to the emergency room in respiratory and hemodynamic distress with a generalized oedematous syndrome and a bone marrow failure syndrome. Laboratory tests concluded that the patient was suffering from an acute lymphoblastic leukemia, hypoalbuminemia, pericardial effusion, and the absence of any other cause that is in favor of a capillary leak syndrome.In spite of the filling and the introduction of drugs, the cardio respiratory arrest could not be recovered and the child died 24h after his admission. DISCUSSION: It is a rare pathology described for the first time in 1960, generally secondary to a pathological state and more rarely idiopathic, to be evoked in front of clinical and biological parameters which are hypoalbuminemia, hemiconcentration and hypoperfusion, after having eliminated a sepsis in the first place.The treatment is based on the management of the acute phase by filling with crystalloids, drugs or even steroids, and as a preventive treatment of relapses immunoglobulins or theophylline are used. CONCLUSION: The evolution can be quickly fatal, that's why it is necessary to know how to evoke this syndrome in front of a similar clinical presentation.
RESUMO
Dyggve-Melchiore-Clausen (DMC) syndrome is a are autosomal recessive spondyloepimetaphyseal dysplasia associated with mental retardation resulting from mutations in the Dymeclin (DYM) gene mapped in the 18q12-12.1 chromosomal region. We report a case of a consanguineous Moroccan boy with this disease confirmed by the presence of homozygous mutation at c.1878delA of DYM gene. Our patient additionally has a micropenis. We discuss the clinical severity, difficult management of this syndrome and its association with micropenis never described before in the literature.