TY - JOUR
T1 - Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21
AU - Ochiai, Masayuki
AU - Hikino, Shunji
AU - Nakayama, Hideki
AU - Ohga, Shouichi
AU - Taguchi, Tomoaki
AU - Hara, Toshiro
PY - 2006/1
Y1 - 2006/1
N2 - 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.
AB - 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.
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U2 - 10.1055/s-2005-918892
DO - 10.1055/s-2005-918892
M3 - Article
C2 - 16450276
AN - SCOPUS:32244434572
SN - 0735-1631
VL - 23
SP - 63
EP - 66
JO - American Journal of Perinatology
JF - American Journal of Perinatology
IS - 1
ER -