Contributed by Nhu Thuy Can, MD1, Amber Nolan, MD, PhD2, Darrel Waggoner, MD3, Kenneth Silver, MD4, Peter Pytel, MD1
1Department of Pathology, University of Chicago, Chicago, Illinois. 2Department of Pathology, University of California, San Francisco, San Francisco, California. 3Department of Human Genetics, University of Chicago, Chicago, Illinois. 4Department of Pediatric Neurology, University of Chicago, Chicago, Illinois.
An 13-year-old female with a past medical history of attention deficit hyperactivity disorder and auditory processing impairment, who presented with refractory seizures. She had mild cognitive delay, necessitating enrollment in special education classes. She began having absence seizures around the age of 8 years. Her seizure disorder subsequently progressed to include generalized tonic-clonic seizures, resulting in an associated decrease in the level of verbal communication. She had no other known medical problems and an unremarkable family history. She presented for mapping of her seizure activity and subsequent lobectomy. Her long-term electroencephalogram (EEG) monitoring showed multiple patient events associated with rocking movements, but no time length correlation with associated behavioral events. There were multiple bursts of 8 to 10 Hz activity followed by 2 to 3 Hz activity and some secondary generalization.
A resection specimen encompassing the lateral temporal lobe and hippocampus was received for pathologic studies. On low magnification, histopathologic sections demonstrated normocellular brain parenchyma with preserved architecture (Figure 1). No features of hippocampal sclerosis, cortical dysplasia, inflammatory disease or neoplasia were identified. Instead, examination at higher magnification demonstrated numerous, uniformly admixed neurons with distended foamy to granular cytoplasm (Figures 2 and 3). Electron microscopy revealed numerous cytoplasmic membranous inclusions with compact concentric lamellations (Figures 4 and 5; size bars 2μm and 200nm respectively). There are only very rare neurofibrillary tangles by Bielschowsky stain (Figure 6). What is your diagnosis?