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