Images in Clinical Practice

Indian Pediatrics 2001; 38: 304  

Congenital Lymphedema

A one-year-old male child presented with anasarca, scrotal swelling and abnormal shape of penis since birth. He was having difficulty in breathing since 6 months of age which required hospitalization many times for pleural and peritoneal aspirations. The subject was the product of non-consanguineous marriage and the antenatal period was uneventful. He weighed 4 kg at birth. Swelling in all limbs (more on right side compared to left) was noticed since birth. The scrotum was big and penis was wrinkled and irregularly swollen with abnormal curving on one side (Fig. 1). Family history was negative for lymphedema. On examination he had tachypnea, abdominal distension, severe pallor and non-pitting edema on right lower limb, foot, right dorsum of hand and forearm. Roentgenogram of the chest and abdomen were suggestive of right-sided pleural effusion and ascites. Chromo-somal study was normal. The pleural and peritoneal aspirates drew sterile, acellular milky fluid (chyle). He was given supportive and symptomatic treatment.

Congenital lymphedema is a rare entity. Primary lymphatic dysplasia is a term used to describe congenital abnormality of lymphatics which consist of lymphedema, chylous ascites and chylothorax in children. It can be associated with other congenital abnormalities like, Noonan syndrome, diastichiases (double eyelashes), Turner syndrome, yellow nail syndrome, etc. The cause of unilateral chylo-thorax in this patient is difficult to ascertain; however, atresia of thoracic duct, thoracic duct pleural fistula and birth trauma have been attributed as common causes for it. Genital involvement is an uncommon feature. Diag-nosis is mainly clinical. Investigations like lymphangiograms, venograms and biopsies, CT scan, pelvic or abdominal USG usually add little to the diagnosis in children. The management of such cases is ill defined. Medical management used comprises steroids, diuretics and diet while surgical management includes repeated aspirations and various operative procedures. The role of radiotherapy is also not certain..

Milind Kamble,
N.C. Prajapati,
Department of Pediatrics,
Mahatma Gandhi Institute of Medical Sciences,
Sevagram, Wardha 442 102, India.

Fig. 1. Showing lymphedema of right side of body with ascites and genital involvement.