Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy

A 22-year-old man with subacute necrotizing-encephalomyelopathy (SNE; Leigh 's disease) was diagnosed as having progressive renal dysfunction. The clin ical diagnosis of Leigh's disease was obtained by the typical central nervo us lesions, abnormalities in other organs, and increased lactate concentrat ions in blood and cerebrospinal fluid. We performed an open biopsy of the r ight kidney. Light microscopic studies of the renal specimen showed diffuse glomerulocystic kidney (GCK) with tubulointerstitial damage. Electron micr oscopic examination showed marked swelling and increase in the number of mi tochondria of the renal tubular epithelial cells. Therefore, it is suggeste d that mitochondrial disease seems to play an important role in developing GCK. (C) 2001 by the National Kidney Foundation, Inc.