2002-10-23-09 Primary congenital lymphedema © Gourand www.thefetus.net/
Primary congenital lymphedema (Milroy"s)
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.
Synonyms: Hereditary lymphedema type I, Nonne-Milroy Lymphedema, early-onset lymphedema, primary congenital lymphedema.
Incidence: 1:33,000 newborn. Male to female ratio 1:2,3,
Etiology: Autosomal dominant with incomplete penetrance. The gene mutation has been found near the most telomeric region of 5q35.32, There is also some evidence of 2 different sub-mutations or variants depending on the nucleotide substituted,,,,.
Pathogenesis:All the anomalies found are due to dysgenesis of lymphatic microvessels. These dysgenesis ranges from mild to severe and even to aplasia of both, the lymphatic capillaries and collectors,,.
Main features: Present in one or both legs at birth. Lymphedema of PCL persists throughout life but does not appear to affect longevity. As the patient matures, the overlying skin displays a slightly rosy hue, and the size of the edematous parts remains proportional to the remainder of the body. It can rarely present with genital edema, resembling sexual ambiguity.
Ultrasound appearance:This condition is suggested by the finding of an isolated edema of the dorsum of feet in the fetus, a normal karyotype and absence of other significant malformations.
Case report:
These are images obtained during a 28-week routine ultrasound examination. Fetal weight was over the 97th centile.
Fetal lower limbs: Edema of the lower limbs, specially the distal portions. Compare the width of legs and thighs.

Longitudinal view , cross section and fetal leg MRI also show edema.





The rest of the fetal anatomical survey was unremarkable. The fetal karyotype was normal (46, XY).
The baby boy was delivered uneventfuly and the following images show foot and toe edema.


Differential diagnosis:
Possible complications:
Reported complications, although rare, have been reported:
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Intestinal lymphangiectasia. -
Bacterial infections of dorsal aspects of feet and toes. -
Recurrent septic arthritis. -
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Management: If other fetal anomalies are ruled out, and fetal karyotype is normal, parental counseling concerning etiology, management, and possible complications is advisable.