Przypadek 19-miesięcznego chłopca z olbrzymim uchyłkiem pęcherza moczowego oraz z fenotypowymi cechami zespołu Ehlersa-Danlosa oraz choroby Menkesa

The study presents a case of a 19 mo old boy with Ehlers Danlos syndrome (EDS) in whom a giant bladder diverticulum was revealed. The clinical manifestation included signs and symptoms typical for EDS such as, pale, redundant, hyperextensible skin, joint laxity and hypermobility, which coexisted with signs and symptoms that could suggest Menkes disease: colourless, friable hair, poor weight gain and delayed psychomotoric development from early infancy. In both EDS and Menkes disease the incidence of urinary defects, in particular bladder diverticular, is high.