title: Progressive calcified tuber in a young male with tuberous sclerosis complex.
abstract: Tubers are the most common brain lesions in tuberous sclerosis complex (TSC), and typically remain stable in size and appearance. We present the case of a young male with global developmental impairment and autistic features as well as multiple and mixed daily seizures. The patient had a prominent right frontal cortical tuber characterized by a calcified component, which changed on consecutive magnetic resonance imaging between the age of 4 and 11 years, at which time the patient underwent a lesionectomy. A poor long-term outcome is reported since the patient presents an intractable mixed seizure disorder status post-epilepsy surgery and no significant neuropsychological improvements. Histopathology findings show typical characteristics of tubers in TSC as well as numerous calcifications within the resected nodular lesion. This case supports the notion that tubers with calcified components are not necessarily static lesions and can change with time. Investigation of the relationship between the presence of calcification in tubers and epileptogenecity in a large group of patients would provide insights into the pathogenesis of the seizures and cognitive impairment and hopefully, eventually provide better treatment options for patients with TSC.
authors.affiliation: Carol and James Herscot Center for Tuberous Sclerosis Complex, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
authors.forename: Anne
authors.initials: A
authors.lastname: Gallagher
authors.forename: Neel
authors.initials: N
authors.lastname: Madan
authors.forename: Anat
authors.initials: A
authors.lastname: Stemmer-Rachamimov
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Thiele
mesh_terms: D000293:Adolescent; D002114:Calcinosis / Q000175:diagnosis / Q000209:etiology*; D002540:Cerebral Cortex / Q000473:pathology*; D018450:Disease Progression; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D021621:Imaging, Three-Dimensional; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D014402:Tuberous Sclerosis / Q000150:complications*