García RD, Ibargollín UR, Tavio RAL, León BD, Pérez CI

Language: Spanish
References: 9
Page: 99-106
PDF size: 274.78 Kb.

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.

REFERENCES

1. Grada AA, Phllps TJ. Lymphedema: pathophysiology and clinical manifestations. J Am Acad Dermatol [Internet]. 2017 [cited 2020 Jul 7];77(6):1009-1020. Available from: https://www.sciencedirect.com/science/article/abs/pii/S019096221730381X?via%3Dihub

2. Pereira CN, Koshima I. Linfedema: actualización en el diagnóstico y tratamiento quirúrgico. Rev Chil Cir [Internet]. 2018 [citado 7 Jul 2020];70(6):589-597. Disponible en: https://scielo.conicyt.cl/pdf/rchcir/v70n6/0718-4026-rchcir-70-06-0589.pdf

3. Urbaneja Rodríguez E, Garrote Molpeceres R, Pino Vázquez MA, González García H. Linfedema congénito secundario a enfermedad de Milroy. An Pediatr (Barc) [Internet]. 2017 [citado 7 Jul 2020];86(3):169-170. Disponible en: https://www.analesdepediatria.org/es-pdf-S1695403315005639

4. Mortime PS, Gordon K, Brice G, Mansour S. Hereditary and Familial Lymphedemas. Lymphedema [Internet]. 2018 [cited 2020 Jul 7]:29-43. Available from: https://link.springer.com/chapter/10.1007/978-3-319-52423-8_3 5. Ouattara CZ, Kalmogho A, Yonaba C, Bouda CG, Yaméogo G, Kam L. Le lymphoedème congénital primaire: la maladie de Milroy: à propos du premier cas observé dans le Département de Pédiatrie du Centre Hospitalier Universitaire Yalgado Ouédraogo, Ouagadougou” [Linfedema congénito primario: enfermedad de Milroy: el primer caso observado en el Departamento de Pediatría en el Hospital Universitario Yalgado Ouedraogo, Uagadugú]. Pan Afr Med J [Internet]. 2017 [cited 2020 Jul 7];27(1). Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511709/pdf/PAMJ-27-21.pdf

5. Neves C, Brito N, Mota L. Linfedema congénito. Nascer e Crecer [Internet]. 2017 [citado 7 Jul 2020];26(1):68-70. Disponible en: https://revistas.rcaap.pt/nascercrescer/article/view/9021

6. Mrha L, Bukovansky K, Kafkova J, Kraft O. Primary Congenital Lymphedema. Clin Nucl Med [Internet]. 2018 [cited 2020 Jul 7];43(7):515-517. Available from: https://pubmed.ncbi.nlm.nih.gov/29762243/

7. Quiñones Castro JM. Linfedema congénito hereditario: (síndrome de Milroy). Presentación de un caso. Rev cubana pediatr.1972;11:115-22.

8. Liu N. Primary Lymphedema and Lymphatic Malformation. En: Lee B-B, Rockson SG, Bergan J, editores. Lymphedema: A Concise Compendium of Theory and Practice [Internet]. Cham: Springer International Publishing; 2018. p. 743-52. Disponible en: https://doi.org/10.1007/978-3-319-52423-8_59

9. Schlögel MJ, Brouillard P, Boon LM, Vikkula M. Molecular Genetics of Lymphatic and Complex Vascular Malformations. En: Lee B-B, Rockson SG, Bergan J, editores. Lymphedema: A Concise Compendium of Theory and Practice [Internet]. Cham: Springer International Publishing; 2018. p. 753-63. Disponible en: https://doi.org/10.1007/978-3-319-52423-8_60