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2002-10-22-14 Answer to case of the week #85 © Gourand


Answer to case of the week # 85

December 6 - January 2

Véronique Mirlesse MD*, Ronaldo Levy MD*, Geneviève Brodaty MD*, Pascale Sonigo MD**, Dominique Teillac MD***, Luc Gourand, MD*, Fernand Daffos MD*, Fernando Heredia MD

*  Service de médecine foetale, Institut de Puériculture et Périnatalogie, Paris.
** Service de radio-pédiatrie, Hopital Necker Enfants Malades, Paris
*** Service de dermatologie, Hopital Necker Enfants Malades, Paris
" Women"s Health Alliance, Nashville, Tennessee.

The images provided in the case show a very clear widening of the lower limbs, specially the distal portions. (Comparing the width of thighs and legs in image 1).

We can also see this finding in all the following images

Note the leg edema in the images below.

Fetal MRI further demonstrate the leg edema.

Foot and specially toe edema was present at delivery.

Causes for fetal edema of lower limbs are:

  • Non-lymphatic edema.
  • Turner syndrome
  • Noonan syndrome
  • Lymphedema-distichiasis syndrome (double row of eyelashes)[1],[2]
  • Lymphedema and ptosis syndrome.
  • Milroy lymphedema (Hereditary lymphedema type I, primary congenital lymphedema, early-onset congenital lymphedema, Nonne-Milroy lymphedema). 
  • Meige lymphedema (Hereditary lymphedema type II, late-onset congenital lymphedema, lymphedema praecox)[3].
  • Congenital recessive type lymphedema[4].
It was also brougt to our attention, that the baby"s mother and grandfather had thick legs.
The final diagnosis for this baby was Milroy’s primary congenital lymphedema (PCL)


[1] Dale RF.Primary lymphoedema when found with distichiasis is of the type defined as bilateral hyperplasia by lymphography. J Med Genet  1987 Mar;24(3):170-1

[2] Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.Am J Hum Genet  2000 Dec;67(6):1382-8

[3] Herbert FA, Bowen PA. Hereditary late-onset lymphedema with pleural effusion and laryngeal edema. Arch Intern Med  1983 May;143(5):913-5

[4] Mucke J, Hoepffner W, Scheerschmidt G, Gornig H, Beyreiss K. Early onset lymphoedema, recessive form--a new form of genetic lymphoedema syndrome. Eur J Pediatr  1986 Aug;145(3):195-8

Now, we knew the fetal karyotype was normal and that it was not a case of secondary edema due to a cardiovascular anomaly/disease.


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