Moerman P, Vandenberghe K, Devlieger H, Van Hole C, Fryns J P, Lauweryns J M
Department of Pathology I, Katholieke Universiteit Leuven, Belgium.
Am J Med Genet. 1993 Aug 1;47(1):54-8. doi: 10.1002/ajmg.1320470112.
We report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a common pathogenesis for both disorders. The basic defect is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence. The cause of CPL is heterogeneous. Apparently, most cases are sporadic occurrences. We report the second instance of CPL in sibs. This indicates that some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome such as Noonan, Ullrich-Turner, and Down syndrome.
我们报告了7例患有双侧乳糜胸的原发性先天性肺淋巴管扩张症（CPL）的围产期尸检病例。本研究表明，原发性CPL常并发乳糜性胸腔积液，继而导致肺发育不全。相反，CPL似乎是先天性自发性乳糜胸的一个恒定病理表现。这些观察结果表明这两种疾病有共同的发病机制。基本缺陷并非肺部的内在异常，而是淋巴系统的发育错误，导致肺部淋巴梗阻序列。CPL的病因是异质性的。显然，大多数病例为散发性。我们报告了同胞中出现CPL的第二例。这表明某些病例是由常染色体隐性遗传决定的。CPL也可能是多种先天性异常（MCA）综合征的一部分，如努南综合征、乌尔里希 - 特纳综合征和唐氏综合征。
