ABSTRACT
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for Wilms tumor, A for aniridia, G for genital anomalies, and R for mental retardation. Wilms tumor and male genital anomalies are caused by deletion of the WT1 tumor-suppressor gene, and aniridia is caused by deletion of PAX6 ocular developmental gene. Mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region. Individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late-onset renal failure, and should be monitored for these complications.
Subject(s)
Aniridia/genetics , Eye Proteins/genetics , Gene Deletion , Genitalia, Male/abnormalities , Homeodomain Proteins/genetics , Humans , Infant , Male , Intellectual Disability/genetics , Paired Box Transcription Factors/genetics , Repressor Proteins/genetics , WAGR Syndrome/diagnosis , Wilms Tumor/diagnosisABSTRACT
Pseudoaneurysms of the extracranial Internal Carotid Artery (ICA) are rare. Here it is reported a case of posttraumatic extracranial ICA pseudoaneurysm in a three-year-old boy. The pseudoaneurysm arising from the extracranial ICA was initially diagnosed by DSA. Later on confirmed by Doppler and MRA. The imaging features are described with a brief review of literature.