Baquedano OA, Cano RM, Barahona AA

Language: Spanish
References: 21
Page: 307-315
PDF size: 381.98 Kb.

ABSTRACT

Background: Primary lymphedema (PL) is a condition generated by an intrinsic failure in the lymphatic vessels that leads to the formation of edema of chronic character, of genetic origin, with a prevalence of 1 in 100,000 people, being more frequent in the female sex and affecting mainly the lower extremities. One of its forms, Milroy's disease (MD), which corresponds to less than 10% of all LP, is a rare, congenital entity, with autosomal dominant inheritance and variable penetrance, associated with mutations of the FLT4 gene.
Clinical case: Male preterm newborn, born by cesarean section as a result of a high-risk pregnancy; parents with no family history of lymphedema. At birth he presented bilateral edema of the lower limbs, localized in the dorsum of both feet, with local changes; no other abnormalities were present. Due to the clinical presentation, PL due to MD was suspected. Multiple studies were performed, among them; soft tissue ultrasound found edema of lymphatic origin, with microcystic malformations of lymphatic vessels; findings compatible with the disease. Conservative management was provided due to the young age of the patient, with the respective multidisciplinary follow-up.
Conclusions: A comprehensive clinical evaluation of the patient is essential. Given the rarity of this condition, MD should be suspected in any patient presenting bilateral lower extremity edema since birth, even without previous family history. Multidisciplinary management is essential, as well as monitoring and surveillance of the phenotypic evolution of the patient and family.

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