Download PDF
Am J Perinatol 2002; 19(6): 323-332
DOI: 10.1055/s-2002-34465
Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Fetal Hydrops and Familial Pulmonary Lymphatic Hypoplasia

Donald W. Thibeault1 , Philip Black1 , Eugenio Taboada2
  • 1Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri
  • 2Department of Pathology, Children's Mercy Hospital; and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
Further Information

Publication History

Publication Date:
01 October 2002 (online)

Also available at
    Permissions and Reprints

ABSTRACT

Two siblings were born with pleural effusions and hydrops. The first infant was a 26-week-old gestation male and died at 8 hours of life with radiographically small lungs and pulmonary insufficiency. No lung tissue was obtainable. This pregnancy was followed by two normal term infants, a male and female. The fourth pregnancy resulted in a female born at 35 weeks' gestation with pleural effusion and hydrops who died at 32 months of age. This infant was discharged from hospital at 32 days of age with small pleural effusions, but needed supplemental oxygen and daily diuretics to control edema. There were 14 additional admissions until death-all for respiratory distress or infections. An open lung biopsy at 2 months, showed dilated pleural lymphatics, with hypoplasia of the acinar and terminal bronchiolar lymphatics. At postmortem examination there was a markedly thickened pleura, and slit-like hypoplastic lymphatics of the acinar and terminal bronchioles and interlobular septal regions. This is the second family reported with these distinctive pulmonary intra-acinar and peri-acinar hypoplastic lymphatics. This disease is compatible with an autosomal recessive mode of inheritance.

KEYWORDS

Neonatal - lung - lymphatics - hydrops

REFERENCES

  • 1 Wafelman L S, Pollock B H, Kreutzer J, Douglas S R, Hutchison A A. Nonimmune hydrops fetalis: fetal and neonatal outcome during 1983-1992.  Biol Neonate . 1999;  75 73-81
    CrossrefPubMedGoogle Scholar
  • 2 Thibeault D W, Zalles C, Wickstrom E. Familial pulmonary lymphatic hypoplasia associated with fetal pleural effusions.  J Pediatr . 1995;  127 979-983
    PubMedGoogle Scholar
  • 3 Fox G F, Challis D, O'Brien K K, Kelly E N, Ryan G. Congenital chylothorax in siblings.  Acta Pediatr . 1998;  87 1010-1012
    PubMedGoogle Scholar
  • 4 King P A, Ghosh A, Tang M H, Lam S K. Recurrent congenital chylothorax.  Prenat Diagn . 1991;  11 809-811
    CrossrefPubMedGoogle Scholar
  • 5 Schwartz S M, Viseskul C, Laxova R, McPherson E W, Gilbert E F. Idiopathic hydrops fetalis: report of 4 patients including 2 affected sibs.  Am J Med Genet . 1981;  8 59-66
    CrossrefPubMedGoogle Scholar
  • 6 Laurence K. Congenital pulmonary lymphangiectasis.  J Clin Pathol . 1959;  12 62-69
    PubMedGoogle Scholar
  • 7 Hunter W S, Becroft D MO. Congenital pulmonary lymphangiectasis associated with pleural effusions.  Arch Dis Child . 1984;  59 278-279
    PubMedGoogle Scholar
  • 8 Ekelund H, Palmstierna S, Ostberg G. Congenital pulmonary lymphangiectasis.  Acta Paediatr Scand . 1966;  55 121-125
    PubMedGoogle Scholar
  • 9 Light R W, Macgregor M I, Luchsinger P C, Ball Jr C W. Pleural effusions: the diagnostic separation of transudates and exudates.  Ann Intern Med . 1972;  77 507-513
    CrossrefPubMedGoogle Scholar
  • 10 Staats B A, Ellefson R D, Budahn L L, Dines D E, Prakash U BS, Offord K. The lipoprotein profile of chylous and nonchylous pleural effusions.  Mayo Clin Proc . 1980;  55 700-704
    PubMedGoogle Scholar
  • 11 Meyrick B, Reid L. Pulmonary arterial and alveolar development in normal postnatal rat lung.  Am Rev Respir Dis . 1982;  125 468-473
    PubMedGoogle Scholar
  • 12 Shaffer S G, O'Neill D, Bradt S K, Thibeault D W. Chronic vascular pulmonary dysplasia associated with neonatal hyperoxia exposure in the rat.  Pediatr Res . 1987;  21 14-20
    PubMedGoogle Scholar
  • 13 Thurlbeck W M. Postnatal human lung growth.  Thorax . 1982;  37 564-571
    CrossrefPubMedGoogle Scholar
  • 14 Kampmeier O F. The distribution of valves and the first appearance of definite direction in the drainage of lymph in the human lung.  Am Rev Tuberculosis Pulmon Dis . 1928;  18 360-371
    PubMedGoogle Scholar
  • 15 Harvey D F, Zimmerman H M. Studies on the development of the human lung.  Anat Rec . 1935;  61 203-229
    PubMedGoogle Scholar
  • 16 Lauweryns J M. Hyaline membrane disease in newborn infants macroscopic, radiographic, and light and electron microscopic studies.  Human Pathol . 1970;  1 175-204
    PubMedGoogle Scholar
  • 17 Scott-Emuakpor A B, Warren S T, Kapur S, Quiachon E B, Higgins J V. Familial occurrence of congenital pulmonary lymphangiectasis: genetic implications.  Arch Pediatr Adolesc Med [Am J Dis Child] . 1981;  135 532-534
    PubMedGoogle Scholar
  • 18 Van der Putte C J S. The development of the lymphatic system in man.  Adv Anat Embryol Cell Biol . 1975;  51 3-60
    PubMedGoogle Scholar
  • 19 Zadvinskis D P, Benson M T, Kerr H H. Congenital malformations of the cervicothoracic lymphatic system; embryology and pathogenesis.  Radiographics . 1992;  12 1175-1189
    PubMedGoogle Scholar
  • 20 Van der Putte S CJ. Lymphatic malformation in human fetuses.  Virchows Arch (A) . 1977;  376 233-246
    PubMedGoogle Scholar
  • 21 Faul J L, Berry G J, Colby T V. Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome.  Am J Respir Crit Care Med . 2000;  161 1037-1046
    CrossrefPubMedGoogle Scholar