| WAGR syndrome--a case report. | |
| | |
MedLine Citation:
|
PMID: 20405644 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of 11p13 chromosome. The syndrome is usually recognized by sporadic aniridia present at birth, often followed by the development of Wilms tumor in early childhood, but possible at any age. Genetic testing using fluorescence in situ hybridization (FISH) is the method of choice to detect specific deletions. The multidisciplinary approach in medical treatment not only of the tumor, but of a large variety of clinical features and possible complications is highly demanding and challenging. We report on a boy born with aniridia, cryptorchidism and facial dysmorphism recognized as WAGR syndrome in neonatal period, subsequently confirmed by genetic testing. Wilms tumor developed at the age of one year. Surgical treatment and chemotherapy resulted in complete remission for almost six years now. However, an increased risk of late post-treatment complications and development of de novo tumor in the contralateral kidney is a permanent threat. Therefore, ongoing oncologic follow up along with ophthalmologic and neurologic treatment and psychological support are a lifelong necessity. |
| | |
Authors:
|
Mirta Starcevi?; Marina Mataija |
Related Documents
:
|
19852434 - Down syndrome associated with severe combined immunodeficiency: a case report. 6740434 - The brachmann-de lange syndrome. a case report. 16010674 - Clinical and molecular overlap in overgrowth syndromes. 2648854 - Psychopathology in fragile x syndrome. 20880824 - Multiple endocrine neoplasia 1: providing care for the family. 11952074 - Pontocerebellar hypoplasia type 2 and reye-like syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Acta clinica Croatica Volume: 48 ISSN: 0353-9466 ISO Abbreviation: Acta Clin Croat Publication Date: 2009 Sep |
Date Detail:
|
Created Date: 2010-04-21 Completed Date: 2010-05-18 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9425483 Medline TA: Acta Clin Croat Country: Croatia |
Other Details:
|
Languages: eng Pagination: 455-9 Citation Subset: IM |
Affiliation:
|
University Department of Pediatrics, Sestre milosrdnice University Hospital, Zagreb, Croatia. mirta_ps@yahoo.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Child, Preschool Humans Infant Infant, Newborn Male WAGR Syndrome / diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Unilateral twin tubal pregnancy and subsequent heterotopic pregnancy in a patient following in vitro...
Next Document: Spontaneous pneumomediastinum in a healthy adolescent.