Am J Perinatol 2006; 23(1): 063-066
DOI: 10.1055/s-2005-918892
Copyright © 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Nonimmune Hydrops Fetalis Due to Generalized Lymphatic Dysplasia in an Infant with Robertsonian Trisomy 21

Masayuki Ochiai1 , Shunji Hikino2 , Hideki Nakayama1 , Shouichi Ohga2 , Tomoaki Taguchi2 , Toshiro Hara1
  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
  • 2Perinatal and Maternity Care Unit, Kyushu University Hospital, Fukuoka, Japan
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Publication History

Publication Date:
04 November 2005 (online)

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ABSTRACT

We report the first case of generalized lymphatic dysplasia and trisomy 21 presenting with nonimmune hydrops fetalis. This infant showed intractable chylothorax, chylous ascites, and periodic bouts of edema. A karyotype analysis revealed Robertsonian trisomy 21: 46,XY,t(14q21q)(q10;q10) +21. This patient died of multiple organ failure at 400 days of life, despite the management of chylous effusions. The lymphoscintigraphy and histopathological findings led to the final diagnosis of generalized lymphatic dysplasia, which might also contribute to the development of hydrops. Refractory chylothorax in trisomy 21 patients may emphasize the need for intensive scrutiny of lymphatic disorders.

REFERENCES

Masayuki OchiaiM.D. 

Department of Pediatrics, Graduate School of Medical Sciences

Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan