Kufs' disease presenting as late-onset epilepsia partialis continua

Neurology. 1998 Oct;51(4):1180-2. doi: 10.1212/wnl.51.4.1180.

Abstract

A 64-year-old woman, who had no personal or family history of neurologic diseases, had an 18-month history of epilepsia partialis continua (EPC) associated with a moderate intellectual deterioration and subtle extrapyramidal rigidity. There was no photosensitive response. A thorough laboratory investigation was unremarkable. A biopsy of the rectal mucosa revealed abundant fingerprint profiles diagnostic of Kufs' disease (KD). Our case expands the clinical picture of KD and suggests that such a diagnosis should be considered in adult-onset EPC.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Diagnosis, Differential
  • Epilepsia Partialis Continua / diagnosis*
  • Female
  • Humans
  • Middle Aged
  • Muscle, Smooth / pathology
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / pathology