A 1-day-old girl is evaluated in the newborn nursery due to swollen hands and feet. She was born at term via an emergency cesarean because her mother had preeclampsia with severe features complicated by pulmonary edema. The newborn's vital signs are normal. Examination shows a short, webbed neck; dysplastic nails; and bilateral, nonpitting carpal and pedal edema. Ultrasound of the abdomen shows a horseshoe kidney. Which of the following is the most likely cause of the edema in this patient?

Question

A 1-day-old girl is evaluated in the newborn nursery due to swollen hands and feet.  She was born at term via an emergency cesarean because her mother had preeclampsia with severe features complicated by pulmonary edema.  The newborn's vital signs are normal.  Examination shows a short, webbed neck; dysplastic nails; and bilateral, nonpitting carpal and pedal edema.  Ultrasound of the abdomen shows a horseshoe kidney.  Which of the following is the most likely cause of the edema in this patient?

Quizplus · Accepted Answer

11ec25c8_d6e5_bd13_bc81_f9490309d640_MD0003_00 This infant has clinical features (eg, webbed neck, carpal and pedal edema, nail dysplasia, horseshoe kidney) consistent with Turner syndrome (TS), a congenital disorder caused by complete or partial deletion of an X chromosome. Swelling is due to congenital lymphedema, which occurs in over half of patients with TS and results from lymphatic network dysgenesis. The dysfunctional lymphatic system causes accumulation of protein-rich interstitial fluid in the hands, feet, and neck. Severe obstruction of lymphatic vessels can result in cystic hygroma of the neck and fetal hydrops. Turner syndrome (TS) cystic hygroma Congenital lymphedema typically presents at birth with edema that is generally nonpitting due to the high protein content in the interstitial fluid. In contrast, the pitting edema seen with liver failure (hypoalbuminemia), nephrotic syndrome (proteinuria), and congestive heart failure (ventricular hypocontractility) is caused by low protein concentration in the interstitial fluid (Choices B, D, and E). (Choice A) Preeclampsia can exacerbate extremity swelling in pregnancy due to capillary hyperpermeability, decreased albumin, and renal dysfunction; however, these mechanisms are not the primary cause of congenital lymphedema. (Choice C) Sodium retention occurs with renal and cardiac pathology. Horseshoe kidney may increase the risk of urinary infections, but renal function is typically normal. Aortic coarctation is also associated with TS and, if severe, can decrease renal perfusion and lead to kidney failure over time. However, an open ductus arteriosus during the first few days of life is protective against renal damage. Educational objective: Characteristic features of Turner syndrome include webbed neck, horseshoe kidney, and nail dysplasia. Congenital lymphedema occurs due to dysgenesis of the lymphatic system and presents at birth with nonpitting carpal and pedal edema. References: The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. (http://www.ncbi.nlm.nih.gov/pubmed/25804399)

A 1-Day-Old Girl Is Evaluated in the Newborn Nursery Due