Abstract
Xanthogranulomatous pyelonephritis (XGP) is characterized by destruction of the renal
parenchyma and granulomatous inflammation with lipid-laden foamy macrophages as well
as inflammatory infiltration and intensive renal fibrosis. It generally occurs in
adults, especially those in the fifth and sixth decades of life, but is occasionally
seen in children as well. Brachydactyly mental retardation (BDMR) syndrome (OMIM 600430)
is caused by a small deletion of chromosome 2q37 and is a rare condition, with roughly
100 cases reported worldwide. Here, we describe the case of a patient with deletion
of chromosome 2q37, which is known as the BDMR syndrome, and XGP.
Keywords
brachydactyly mental retardation syndrome - 2q37 deletion syndrome - xanthogranulomatous
pyelonephritis