A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis

A female case of developmental arrest, early-onset seizures, retinal pigmen tary degeneration, progressive central nervous symptoms and peripheral neur opathy, associated with progressive renal dysfunction. anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoc lonic encephalopathy, though neonatal seizures were not evident. Serial cra nial MRIs showed progressive brain atrophy and a white matter change. Neuro pathological examination revealed a neurodegenerative disease mainly involv ing the white matter with olivopontocerebellar degeneration. She also had t he nephronophthisis-medullary cystic disease complex and an early stage of focal segmental glomerulosclerosis. Her grandaunts had renal diseases, one of whom died of renal failure in adolescence, and her father showed cerebel lar symptoms since the middle age. All possible metabolic studies were nega tive. This case is similar to Senior-Loken syndrome, but distinct in terms of the severe and progressive neurological symptoms, suggestive of a new ma lignant syndrome with some inherent metabolic derangement affecting both th e nervous system and the kidneys. (C) 2000 Elsevier Science B.V. All rights reserved.