Kocher-Debré-Sémélaigne syndrome with pericardial effusion

Kocher-Debré-Sémélaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report an 11-year-old female child with hypothyroidism and limb muscle pseudohypertrophy with pericardial effusion. The patient presented with hypertrichosis only. She had dull facies and marked hypertrophy of both calves and cervical muscles. Pericardial effusion was confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. Pericardial effusion is known in hypothyroidism but has been very rarely reported with KDSS.     

Mécanismes moléculaires du syndrome néphrotique idiopathique

Steroid-sensitive idiopathic nephrotic syndrome is a T-cell disorder associated with a functional renal impairment. The molecular mechanisms leading from the stimulation of the immune system to the clinical expression of the renal disease can be analyzed according to five biological events: 1) a Th2 activation of T-cells by interleukin-13; 2) a yet unidentified glomerular permeability factor from immune origin; 3) a molecular disorientation of slit diaphragms or glomerular basement membrane responsible for proteinuria; 4) a podocyte cytoskeleton rearrangement responsible for foot process effacement; and 5) renal avidity for sodium and edema formation resulting from a primary stimulation of tubular Na,K-ATPase and an increase of endothelial permeability.