Clinical and morphological phenotype of geleophysic dysplasia

Abstract

Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis.

Novel Mutations in Geleophysic Dysplasia Type 1

“…We did not see the focal clustering of swollen hepatocytes in our patient, as has been described in other reports [4,7–9]. The gross, echocardiographic, and microscopic findings of rapidly progressive thickening of cardiac valves and increased ground substance were similar to those of the previous reports [3,7,8,11,20–22].…”

“…The patient's cardiac valvular disease had already started prenatally. Cardiac valve involvement is indeed a salient feature of this disease, with progressive stenosis from nodular thickening of the cardiac valves, as previously described [3,7,11,12,20,21]. This report demonstrates the echocardiographic valvular changes in a child with GD, described only once in 1999 [20].…”

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

“…We have discovered that, in contrast to GD and MLS, the absence of ADAMTSL2 in mice manifests as neonatal death, probably resulting from bronchial occlusion. This finding is relevant to GD given that narrowing of the trachea and major bronchi, as well as recurrent respiratory infections, are observed in children with GD ( Shohat et al, 1990 ; Panagopoulos et al, 2005 ; Giray et al, 2008 ). To be detrimental, bronchial narrowing would not need to involve the entire length of the airways because local occlusion of proximal airways would result in the lack of aeration distally.…”

Clinical diagnostics of fibrillinopathies (type 1)

“…Рентгеноло-гическое исследование выявляет задержку костного возраста, широкие проксимальные фаланги, конусо-образные эпифизы фаланг, укорочение длины труб-чатых костей, эквиноварусная косолапость, яйцевид-ная форма позвонков [22].. Причиной раннего (до достижения возраста 5 лет) неблагоприятного прогноза жизни нередко (33% диагностированных случаев) являются прогрессиру-ющая сердечная недостаточность, развивающаяся на фоне утолщения створок клапанов сердца и сте-ноза отверстий (митральный, аортальный стеноз, стеноз легочной артерии), дыхательная недостаточ-ность, возникающая в результате стеноза трахеи. Максимальная продолжительность жизни -30 лет [22,23].…”