Case (36)

[Khaliil]

20 days old new born male with marked painless swelling of both lower limbs upto knee joints since birth.There is no pitting.

No other obvious congenital deformity.

Any cardiac or renal abnormalty was ruled out by the paediatrician .

X-Ray lower limbs are normal.

1-what is the most likely diagnosis?
2-mention two other differential diagnosis?
3-other investigations to confirm your diagnosis?
4-how are you going to treat this newborn?

 Good luck

[Mustafa]

Assalam,

Notable consideration in this case; the onset of the swelling, no pitting edema and the gender of the child.

1. I  think Milroy disease to be the most likely diagnosis.
anomalies are due to dysgenesis of lymphatic microvessels, ranging from mild to severe and even to aplasia of both, the lymphatic capillaries and collectors. This condition results from impaired lymph drainage in the presence of normal capillary filtration. It may be either primary in type, which implies an intrinsic abnormality of the lymph-conducting pathways as in this case.
In spite of ruling abnormalities at birth  and no obvious congenital deformity , yet anomalities can occur later in life.

2.- Hypotrichosis-lymphedema-telangiectasia syndrome is the association of childhood-onset lymphedema in the lower limbs, loss of hair, and telangiectasia, particularly on the palms.
-  Lymphedema-distichiasis syndrome is characterized by lower-limb lymphedema and distichiasis. Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs, and is often asymmetric.

3. Since the clinical diagnosis of Milroy disease is based on the presence of lower limb swelling, present at birth or developing soon after, currently the most precise diagnosis can be made by a lymphoscintigraphy test.

4. There is no cure for Milroy's but the condition can be managed by early diagnosis and treatment. Referral should be made to a lymphedema therapist regarding management of edema (e.g., fitting stockings, massage). Although the edema cannot be cured, some improvement is usually possible with the use of properly fitted compression hosiery and/or bandaging. These treatments may improve the cosmetic appearance of the limb, decrease the size of the limb, and reduce the risk of complications.

[Khaliil]

Your are right, It's congenital lymphodema

Thanks for the answer bro