Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline

N Engl J Med. 2011 Mar 17;364(11):1062-74. doi: 10.1056/NEJMcpc1013927.
No abstract available

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Brain / pathology*
  • Cerebral Cortex / pathology
  • Cognition Disorders / etiology
  • Diagnosis, Differential
  • Electroencephalography
  • Epilepsies, Myoclonic / diagnosis
  • Fatal Outcome
  • Female
  • Genes, Dominant
  • Humans
  • Neuronal Ceroid-Lipofuscinoses / complications
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology*
  • Neuropsychological Tests
  • Pedigree
  • Radiography
  • Seizures / etiology