Primary Oxalosis (An Autopsy Case)

Abstract

Primary oxalosis is a rare genetic disorder of glyoxylic acid metabolism. In a 3} year old girl who presented with convulsion and uremia, we found severe nephrolithiasis, numerous calcium oxalate crystals in the kidneys. They were found also in the bone marrow, thymus, choroid plexus, and pituitary gland on postmortem examination. We believe this is the first proven primary oxalosis case, probably Type I, in the Korean literature.