Makhoul Imad R, Sujov Polo, Ghanem Nadir, Bronshtein Moshe
Department of Neonatology, Rambam Medical Center, Bat-Galim, Haifa, Israel.
Prenat Diagn. 2002 Sep;22(9):823-6. doi: 10.1002/pd.418.
Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.
米尔罗伊原发性先天性淋巴水肿（PCL）（遗传性淋巴水肿I型，米尔罗伊病）在出生时即存在，主要影响足部背侧。它大多是一种终身疾病，但不影响寿命。除了受影响部位的慢性不适和温热感外，并发症很少见。PCL是一种常染色体显性疾病，由于编码血管内皮生长因子受体3（VEGFR3）的基因位点发生突变，导致微淋巴管发育不全，其外显率不完全。我们报告了两例胎儿，在妊娠15周时进行超声检查发现双足背侧有明显水肿，无其他重大畸形的证据。其中一例胎儿的水肿完全消退，而另一例胎儿的水肿持续存在，出生后证实为淋巴水肿性质。据我们所知，这是第一例通过胎儿超声检查对原发性先天性淋巴水肿进行早期产前诊断以及胎儿期淋巴水肿自发消退的报告。
