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Case Reports
. 2010 Nov;52(11):1062-5.
doi: 10.1111/j.1469-8749.2010.03792.x.

Progressive calcified tuber in a young male with tuberous sclerosis complex

Anne Gallagher  1 , Neel Madan, Anat Stemmer-Rachamimov, Elizabeth A Thiele
Affiliations
Case Reports

Progressive calcified tuber in a young male with tuberous sclerosis complex

Anne Gallagher et al. Dev Med Child Neurol. 2010 Nov.

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.

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Figures

Figure 1
Figure 1
Axial T1 SE (a, b), 3D SPGR (c, d), and T2 FSE (e–h) magnetic resonance imaging shows progression in the size and appearance of the right frontal cortical tuber over time. Images are presented chronologically.
Figure 2
Figure 2
Histological findings show (a) a nodular lesion with tuber-type cells and numerous calcifications as well as (b) dystrophic calcifications located in the cortex adjacent to the nodule.
See this image and copyright information in PMC

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