Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome
スポンサーリンク
概要
- 論文の詳細を見る
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.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- Recent Change in the Annual Incidence of Childhood Type 2 Diabetes in the Tokyo Metropolitan Area
- A Case of Acute Lymphoblastic Leukemia with Prader-Willi Syndrome during Growth Hormone Therapy
- Characteristics of a Fulminant Onset Form of Idiopathic Type 1 Diabetes Mellitus in Japanese Children
- Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency