Progressive calcified tuber in a young male with tuberous sclerosis complex

Authors

  • ANNE GALLAGHER,

    1.  Carol and James Herscot Center for Tuberous Sclerosis Complex, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
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  • NEEL MADAN,

    1.  Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
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  • ANAT STEMMER-RACHAMIMOV,

    1.  Neuropathology Service, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
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  • ELIZABETH A THIELE

    1.  Carol and James Herscot Center for Tuberous Sclerosis Complex, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
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  • This article is commented on by Curatolo on page 987 of this issue.

Dr Elizabeth Thiele at Carol and James Herscot Center for Tuberous Sclerosis Complex, 175 Cambridge Street, Suite 340, Boston, MA 02114, USA. E-mail: ethiele@partners.org

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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