Aniridie et tumeur de Wilms : deux cas de néphroblastome fœtal rhabdomyomateux |
| |
| Authors: | P Schneider V Drouin-Garraud B Bachy G Brasseur K Lahsinat J Hemet JP Vannier P Tron |
| |
| Institution: | 1Service de pédiatrie et génétique médicale, hôpital Charles-Nicolle, 76031 Rouen cedex, France;2service de chirurgie infantile, hôpital Charles-Nicolle, 76031 Rouen cedex, France;3service d'ophtalmologie, hôpital Charles-Nicolle, 76031 Rouen cedex, France;4service de pédiatrie, hôpital Les Feugrais, 76500 Elbeuf, France;5service d'anatomo-pathologie, hôpital Charles-Nicolle, 76031 Rouen cedex, France |
| |
| Abstract: | Background.Wilms tumor is associated in 7 to 10 % of patients with congenital abnormalities. Among those, aniridia is the most constant feature of the WAGR syndrome that includes, in one third of cases, Wilms tumor. We report two cases of aniridia associated with fetal rhabdomyomatous nephroblastoma.Case reports.Case 1. A one-year old girl with congenital aniridia was admitted for macroscopic hematuria. Abnormal ultrasonography and tomodensitometry revealed a large, bilateral, kidney tumor. The patient was given actinomycin and vincristine, without efficacy. Bilateral tumorectomy was performed 6 months later and the histological study showed a fetal rhabdomyomatous nephroblastoma. This patient is in remission at the age of 5. Case 2. A boy, also with congenital aniridia, presented with macroscopic hematuria at the age of 2 years revealing a nephroblastoma located on his right kidney. Preoperative chemotherapy remained uneffective and the nephrectomy performed 1 month later permitted the diagnosis of fetal rhabdomyomatous nephrolastoma. The patient is well 4 years later.Conclusion.Both cases of fetal rhabdomyomatous nephroblastoma, a histological variant of Wilms tumor, seem to be the first reported in the WAGR syndrome. |
| |
| Keywords: | né phroblastome aniridie syndrome WAGRAuthor Keywords: nephroblastoma abnormalities iris child |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
