WAGR SYNDROME A RARE CLINICAL PRESENTATION

Abstract

WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies and mental Retardation 13. The G is sometimes referred as gonadoblastoma since the genitourinary anomalies are  tumours of the gonads (testis or ovaries) 2. WAGR syndrome was first described by Miller et al. in 196410.A subset of WAGR syndrome patients show severe childhood obesity the acronym WAGRO (O for obesity) has been used to describe this category 3.The condition results from a deletion on  chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes 3.   Chromosomal analysis is necessary for definitive diagnosis 4 .The ocular development gene (PAX6) and the Wilms'             tumour gene (WT1) are the deleted contiguous genes 5.  Abnormalities in WT1 may also cause genitourinary   anomalies. Mutations in the PAX6 gene not only cause ocular abnormalities, but also problems in the brain and pancreas             5-8.The gene for brainderived neurotropic factor (BDNF), located on 11p14.1, and has been proposed as a candidate gene for the obesity and excessive eating in a subset of WAGR patients 9 15.We report a case of 1.5 year old male child presented with unilateral flank mass, intermittent fever and weight loss for 1 month with a history of not fixing his eyes or looking at his mother since birth. He was diagnosed to have aniridia, nystagmus and coloboma of iris with bilateral undescended testis (Cryptorchidism).