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Gaceta Médica Espirituana
versão On-line ISSN 1608-8921
Resumo
GARCIA ROMAN, Dayelis et al. Bilateral primary congenital lymphedema. Case report. Gac Méd Espirit [online]. 2021, vol.23, n.2, pp. 99-106. Epub 02-Ago-2021. ISSN 1608-8921.
Background:
Primary congenital lymphedema is a rare condition with an important genetic component characterized by chronic edema of the affected area.
Objective:
To present a bilateral primary congenital lymphedema and discuss its origin.
Case report:
A case of bilateral primary congenital lymphedema was presented in a 2-year-old boy with no any family background of the disease. Its possible genetic causes were discussed since there are several mutations that explain its origin. Although genetic studies could not be performed to know the exact etiology, there is clinical evidence that it is not a Milroy's disease, unless it presents as a de novo mutation. The patient was followed up from diagnosis to the present.
Conclusions:
There are multiple genetic mutations that explain the origin of a primary congenital lymphedema, so it should not necessarily be Milroy's disease when present. A highlighted and important element was that in this case no any family background was evidenced. Conservative treatment was used as the essential conduct to follow up, a remarkable clinical progress was evidenced in the patient.
Palavras-chave : Primary congenital lymphedema; genetics; etiology; Milroy's disease.