Hasegawa Kosei, Nagaoka Yoshiharu, Maruyama Hidehiko, Aya Kunihiko, Tanaka Hiroyuki, Morishima Tsuneo
Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Clin Pediatr Endocrinol. 2009 Jul;18(3):87-93. doi: 10.1297/cpe.18.87. Epub 2009 Aug 1.
Noonan syndrome is characterized by facial dysmorphology, congenital heart disease and growth failure. Although it is also accompanied by deranged lymph-vessel formation, protein-losing enteropathy (PLE) with Noonan syndrome is rarely reported. We report clinical information about a boy with Noonan syndrome and late-onset lymphedema and PLE after standing for long periods of time during athletic practice sessions. The boy recovered from lymphedema and PLE after administration of 2.5 g of albumin followed by resting and raising his legs. They did not recur after he began walking again. Standing for long periods of time congested the lymph stream at the abdominal lymph vessel, whose formation is frequently disturbed in Noonan syndrome, and the increased pressure caused lymphedema and PLE. PLE is one of the clinical manifestations of Noonan syndrome.
努南综合征的特征为面部畸形、先天性心脏病和生长发育迟缓。虽然它也伴有淋巴管形成紊乱，但关于努南综合征合并蛋白丢失性肠病（PLE）的报道很少。我们报告了一名患有努南综合征的男孩的临床信息，他在体育训练期间长时间站立后出现迟发性淋巴水肿和PLE。该男孩在输注2.5克白蛋白、休息并抬高双腿后，淋巴水肿和PLE得以恢复。再次开始行走后未复发。长时间站立会使腹部淋巴管的淋巴流受阻，而努南综合征患者的腹部淋巴管形成常受到干扰，压力增加导致了淋巴水肿和PLE。PLE是努南综合征的临床表现之一。
