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2002-11-20-15 Case of the week # 94 © Sepulveda

Case of the week # 94

April 25-May 8, 2003

Waldo Sepulveda, MD and  Sebastian Illanes, MD

Centre for Fetal Care, Institute of Reproductive and Developmental Biology, Division of Paediatrics, Ob-Gyn, Imperial College, Queen Charlotte"s & Chelsea Hospital, Hammersmith Campus, Du Cane Road, London W12 0NN, UK and   
Department of Obstetrics and Gynecology, Hospital Parroquial, Universidad Los Andes, San Bernardo

29-year-old primigravida was referred at 30 weeks’ gestation for an ultrasonographic examination to evaluate fetal growth after a positive screening for gestational diabetes. Her previous medical history was non contributory and a first trimester scan performed because of uncertain dates revealed a biometry consistent with 14 week fetus with the following images. There were no obvious anomalies. Note the legs in particular.

A local scan previous to the referral at 28 weeks revealed suboptimal fetal growth but normal amniotic fluid volume. At referral, the fetal growth was below the 10th centile, normal Doppler and normal amniotic fluid volume. There was no nuchal thickening, and the four-chamber view was reported as normal. The following images were obtained:

Lymphedema in all four extremities in association with a single umbilical artery was noted.

A presumptive diagnosis of Hereditary lymphedema I  was made. Accordingly, prenatal karyotyping was not recommended. Follow-up scans were done weekly and an elective cesarean section was performed at 37 weeks’ gestation delivering a 2900 g female fetus with Apgar scores of 9 and 9 at 1 and 5 minutes, respectively. Lymphedema of all extremities was evident.


Lymphocyte culture confirmed a 45,X0 karyotype. Further neonatal evaluation revealed normal chest X-ray, and normal head and abdominal scans. Echocardiography showed a small ventricular septal defect. The infant was discharged in good condition. However, she developed progressive right pleural effusion requiring puncture and aspiration at 1 month of age. Analysis of the aspirated fluid confirmed a chylothorax. She is currently asymptomatic and in good condition.

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