Tuberous sclerosis complex coexistent with hippocampal sclerosis.
Tuberous sclerosis and hippocampal sclerosis are both well-defined entities associated with medically intractable epilepsy. To our knowledge, there has been only one prior case of these two pathologies being co-existent. We report a 7-month-old boy who presented with intractable seizures at 2 months of age. MRI studies showed diffuse volume loss in the brain with bilateral, multiple cortical tubers and subcortical migration abnormalities. Subependymal nodules were noted without subependymal giant cell astrocytoma. Genetic testing revealed TSC2 and PRD gene deletions. Histopathology of the hippocampus showed CA1 sclerosis marked by loss of neurons in the CA1 region. Sections from the temporal, parietal and occipital lobes showed multiple cortical tubers characterized by cortical architectural disorganization, gliosis, calcifications and increased number of large balloon cells. Focal white matter balloon cells and spongiform changes were also present. The patient underwent resection of the right fronto-parietal lobe and a subsequent resection of the right temporal, parietal and occipital lobes. The patient is free of seizures on anti-epileptic medication 69 months after surgery. Although hippocampal sclerosis is well documented to be associated with coexistent focal cortical dysplasia, the specific co-existence of cortical tubers and hippocampal sclerosis appears to be rare.
Case Western Reserve University School of Medicine and Department of Anatomic Pathology, L25, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Min
M
Lang
Case Western Reserve University School of Medicine and Department of Anatomic Pathology, L25, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Electronic address: praysor@ccf.org.
Richard A
RA
Prayson
D006624:Hippocampus / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012598:Sclerosis / Q000473:pathology; D012640:Seizures / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications*
Cortical tuber; Epilepsy; Focal cortical dysplasia; Hippocampal sclerosis; Tuberous sclerosis