Developmental Disorders of the Lymphatics

An information blog for disorders of the lymphatics. For all articles, please click on "Archives" - Due to spammers, I will no longer allow comments, sorry.

Sunday, July 16, 2006

Pulmonary Cystic Lymphangiectasis




Frank and Piper (1959) described 2 affected infants who were not related. One was stillborn and the other lived only about 2 hours. In 1 case there were similar lesions in the heart, pancreas, kidneys, and mesentery. Scott-Emuakpor et al. (1981) described the disorder in 2 sisters who showed acute respiratory distress soon after birth and died in the neonatal period. Changes at autopsy were limited to the lungs.

Moerman et al. (1993) reported on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. They demonstrated that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathologic finding in spontaneous congenital chylothorax. These observations indicated a common pathogenesis for the 2 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.

Moerman et al. (1993) concluded that the cause of CPL is heterogeneous. Most cases are apparently sporadic occurrences. They reported the second instance of CPL in sibs. Thus, some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome, such as Noonan syndrome (163950), Turner syndrome, and Down syndrome.

Njolstad et al. (1998) reported the cases of 3 sibs with nonimmune hydrops fetalis (236750); 2 of them had congenital pulmonary lymphangiectasia.


1. Frank, J.; Piper, P. G. :
Congenital pulmonary cystic lymphangiectasis. J.A.M.A. 171: 1094-1098, 1959.PubMed ID :
2. Moerman, P.; Vandenberghe, K.; Devlieger, H.; Van Hole, C.; Fryns, J.-P.; Lauweryns, J. M. :
Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. Am. J. Med. Genet. 47: 54-58, 1993.PubMed ID :
3. Njolstad, P. R.; Reigstad, H.; Westby, J.; Espeland, A. :
Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. Europ. J. Pediat. 157: 498-501, 1998.PubMed ID :
4. Scott-Emuakpor, A. B.; Warren, S. T.; Kapur, S.; Quiachon, E. B.; Higgins, J. V. :
Familial occurrence of congenital pulmonary lymphangiectasis: genetic implications. Am. J. Dis. Child. 135: 532-534, 1981.PubMed ID :


Victor A. McKusick - updated : 2/20/1999Victor A. McKusick - updated : 8/21/1998


Victor A. McKusick : 6/4/1986


carol : 2/23/1999terry : 2/20/1999terry : 8/21/1998mimadm : 3/12/1994supermim : 3/17/1992supermim : 3/20/1990ddp : 10/27/1989marie : 3/25/1988reenie : 6/4/1986
Copyright © 1966-2004 Johns Hopkins University

Pub Med


Pulmonary cystic lymphangiectasis

Clinical Signs:

abnormal pleura/hydrothorax (Very frequent sign) autosomal recessive inheritance (Very frequent sign) respiratory distress (Very frequent sign) stillbirth/neonatal death (Very frequent sign) liver enlargement (excl. storage dis.) (Occasional sign) lymphoedema/oedema (Occasional sign) splenomegaly (Occasional sign)

Outpatient clinic(s)

Dysmorphology clinicGenetic counselling clinic

Any outpatient pneumology clinic.



Congenital pulmonary lymphangiectasis.

Report of four cases (author's transl)]

[Article in Spanish]

Fidalgo I, Ortega F, Alustiza J, Pastor E, Cabrera A.

Four cases of congenital pulmonary lymphangiectasis were observed during a five year period. This represents an incidence of 1.11 per 10,000 cases among alive newborns and of 53 per 10,000 cases among pediatric necropsias performed during the same period. One case was observed in the clinical context of a generalized hemangiolymphangiomatosis, another was associated to tetralogy of Fallot and the remaining two cases were associated to obstruction of pulmonary venous return. Although one of the pathogenic theories generally accepted in the formation of pulmonary lymphangiectasis points to the presence of either hypertension or obstruction of pulmonary venous drainage, it is possible that such situation is only circumstantial. Among 40 personal cases of obstruction of pulmonary venous return proved anatomically, only in the two cases presented were pulmonary lymphangiectasis demonstrated. The presence of dysplastic elements in pulmonary tissue in cases of lymphangiectasis suggests that a more possible mechanism is a primary defect in the development of pulmonary lymphatics.

Publication Types:

Case Reports

PMID: 7224372 [PubMed - indexed for MEDLINE]


Congenital pulmonary lymphangiectasis

[Article in German]

Wockel W, Dietrich M.

3 cases of congenital pulmonary lymphangiectasis are described. A girl, now 3 years old, underwent at the age of 4 weeks a resection of the left superior lobe of the lung which was singularly involved. A male newborn died 4 h after birth and showed the typical affection of both lungs. A second male infant died 19 d after birth and had an isolated involvement of the left lung. Post-mortem examination additionally revealed in both boys a cardiovascular malformation. Histologically, we especially observed a papillar endothelial hyperplasia in a dilated lymph vessel in case 1 and multinuclear giant cells of the foreign-body type in case 3. In the literature, there are reported 99 cases of congenital pulmonary lymphangiectasis. Including our case, a unilobar or unilateral involvement is described in only 8 cases.

The congenital pulmonary lymphangiectasis occurs more often in males than in females (1.8 : 1). 90 out of 93 life-born children suffering from this malformation died, 57 of them during the perinatal period. However, cardiovascular malformations, which were observed in 53 cases, are playing an important role as the cause of death. The aetiology of the congenital pulmonary lymphangiectasis remains unknown. There are 4 different theories concerning the pathogenesis, namely, a persistence of early-fetal lymphatic vessels, a missing connection between primitive lymphatic vessels, a hyperplasia of lymphatic ducts and, last but not least, a passive dilatation of the lymph vessels because of venous or lymphatic congestion.

Publication Types:

Case Reports

PMID: 6485606 [PubMed - indexed for MEDLINE]


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Unusual diffuse pulmonary lymphatic proliferation in a young boy