Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21

Masayuki Ochiai, Shunji Hikino, Hideki Nakayama, Shoichi Ohga, Tomoaki Taguchi, Toshiro Hara

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)63-66
Number of pages4
JournalAmerican Journal of Perinatology
Volume23
Issue number1
DOIs
Publication statusPublished - Jan 1 2006

Fingerprint

Hydrops Fetalis
Down Syndrome
Chylothorax
Edema
Chylous Ascites
Lymphoscintigraphy
Multiple Organ Failure
Karyotype
Hennekam lymphangiectasia lymphedema syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology

Cite this

Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21. / Ochiai, Masayuki; Hikino, Shunji; Nakayama, Hideki; Ohga, Shoichi; Taguchi, Tomoaki; Hara, Toshiro.

In: American Journal of Perinatology, Vol. 23, No. 1, 01.01.2006, p. 63-66.

Research output: Contribution to journalArticle

@article{d122d79deca5489597733724c9b56a57,
title = "Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21",
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.",
author = "Masayuki Ochiai and Shunji Hikino and Hideki Nakayama and Shoichi Ohga and Tomoaki Taguchi and Toshiro Hara",
year = "2006",
month = "1",
day = "1",
doi = "10.1055/s-2005-918892",
language = "English",
volume = "23",
pages = "63--66",
journal = "American Journal of Perinatology",
issn = "0735-1631",
publisher = "Thieme Medical Publishers",
number = "1",

}

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, Shoichi

AU - Taguchi, Tomoaki

AU - Hara, Toshiro

PY - 2006/1/1

Y1 - 2006/1/1

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.

UR - http://www.scopus.com/inward/record.url?scp=32244434572&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=32244434572&partnerID=8YFLogxK

U2 - 10.1055/s-2005-918892

DO - 10.1055/s-2005-918892

M3 - Article

C2 - 16450276

AN - SCOPUS:32244434572

VL - 23

SP - 63

EP - 66

JO - American Journal of Perinatology

JF - American Journal of Perinatology

SN - 0735-1631

IS - 1

ER -