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.
KEYWORDS
Lymphatic diseases - Robertsonian trisomy 21 - chylothorax
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Masayuki OchiaiM.D.
Department of Pediatrics, Graduate School of Medical Sciences
Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
