Case of the Week # 66

Raul Martinez MD

January 26-February 8, 2002

Unidad Regiomontana de Diagnostico, Monterrey, Nuevo Leon, Mexico

The patient is scanned at 22 weeks and the examination is unremarkable except for the following images of the lower leg (the other leg and both feet present the same appearance),

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chest... 

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and abdomen

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At 31 weeks, the following image of the arm was obtained:

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What is (are) the finding(s) and diagnosis ?

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Answer

The patient is scanned at 22 weeks and the examination is unremarkable except for the following images of the lower leg. The other leg and both feet present the same edema around the calves and feet.

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In the chest there was a small amount of pleural effusion (note that this is pleural and not pericardial fluid since it infiltrates between the lung and the thorax and not all around the heart).

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The abdomen demonstrated a thin layer of ascites.

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At 31 weeks, the edema became visible around the forearm and hand.

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Findings

Thus the findings included: 

  • distal edema
  • pleural effusion 
  • ascites

This is the foot and leg of the child 

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And the arm:

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And the X-rays demonstrating subcutaneous edema:

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At 3 months ultrasound demonstrated also the edema of the foot

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In this case, making the correct observations was a little difficult, but once they were made, as many discovered, the only diagnosis suggested by OMIM for "distal edema pleural effusion" is Hereditary lymphedema 1 (also called Nonne-Milroy lymphedema, Lymphedema, early-onset or Primary congenital lymphedema).

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