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

A 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 10^th 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.