RESUMO
RESUMEN Fundamento: El linfedema congénito primario es una condición rara con un componente genético importante que se caracteriza por edema crónico de la zona afectada. Objetivo: Presentar un linfedema congénito primario bilateral y discutir su origen. Presentación de caso: Se presentó un caso de linfedema congénito primario bilateral en un niño de 2 años de edad, sin antecedentes patológicos familiares de la enfermedad. Se discutieron sus posibles causas genéticas ya que existen varias mutaciones que explican su origen. Aunque no se pudieron realizar estudios genéticos para conocer la etiología exacta, existen evidencias clínicas de que no se trata de una enfermedad de Milroy, a menos que se presente como una mutación de novo. Se le realizó al paciente un seguimiento desde su diagnóstico hasta la actualidad. Conclusiones: Existen múltiples mutaciones genéticas que explican el origen de un linfedema congénito primario, por lo que no necesariamente debe tratarse de enfermedad de Milroy cuando este se presente. Se destacó como elemento importante que en este caso no se evidenciaron antecedentes familiares. Se empleó el tratamiento conservador como conducta fundamental a seguir, se evidenció en el paciente una notable mejoría clínica.
ABSTRACT 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.
Assuntos
Linfedema/genéticaRESUMO
Congenital lymphedema is usually confined to the lower extremities and an isolated unilateral arm involvement is very rare. We report a 36-year-old women who had congenital lymphedema of the right forearm and hand.
Assuntos
Adulto , Feminino , Humanos , Braço , Antebraço , Mãos , Extremidade Inferior , LinfedemaRESUMO
Congenital lymphedema is a rare disorder of unknown etiology which affects the extremities, preponderantly the lower extremities, at or immediately after birth. We experienced a case of congenital lymphedema in a newborn with generalized edema on the left lower extremity. We performed lymphangioscintigraphy and MRI for diagnosis. Microlymphaticovenous anastomosis was done on 16 days after birth and the patient showed clinical improvement. We report this case with brief review of the related literature.