Literature DB >> 21175459

Progressive calcified tuber in a young male with tuberous sclerosis complex.

Anne Gallagher1, Neel Madan, Anat Stemmer-Rachamimov, Elizabeth A Thiele.   

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.
© The Authors. Journal compilation © Mac Keith Press 2010.

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Year:  2010        PMID: 21175459      PMCID: PMC3489158          DOI: 10.1111/j.1469-8749.2010.03792.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  14 in total

Review 1.  The tuberous sclerosis complex.

Authors:  Peter B Crino; Katherine L Nathanson; Elizabeth Petri Henske
Journal:  N Engl J Med       Date:  2006-09-28       Impact factor: 91.245

2.  Prognostic significance of tuber count and location in tuberous sclerosis complex.

Authors:  Colin Doherty; Suzanne Goh; Tina Young Poussaint; Namik Erdag; Elizabeth A Thiele
Journal:  J Child Neurol       Date:  2005-10       Impact factor: 1.987

3.  Epilepsy surgery in children with tuberous sclerosis complex: presurgical evaluation and outcome.

Authors:  S Koh; P Jayakar; C Dunoyer; S E Whiting; T J Resnick; L A Alvarez; G Morrison; J Ragheb; A Prats; P Dean; J Gilman; M S Duchowny
Journal:  Epilepsia       Date:  2000-09       Impact factor: 5.864

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Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804

Review 5.  Tuberous sclerosis complex and epilepsy: recent developments and future challenges.

Authors:  Gregory L Holmes; Carl E Stafstrom
Journal:  Epilepsia       Date:  2007-03-26       Impact factor: 5.864

6.  Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex.

Authors:  Khanum Ridler; John Suckling; Nicholas Higgins; Patrick Bolton; Edward Bullmore
Journal:  J Child Neurol       Date:  2004-09       Impact factor: 1.987

7.  Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth.

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Journal:  Brain Dev       Date:  1985       Impact factor: 1.961

8.  Neuroimaging in tuberous sclerosis: a clinicoradiological evaluation in pediatric patients.

Authors:  F Menor; L Martí-Bonmatí; F Mulas; C Poyatos; H Cortina
Journal:  Pediatr Radiol       Date:  1992

Review 9.  Tuberous sclerosis complex: advances in diagnosis, genetics, and management.

Authors:  Robert A Schwartz; Geover Fernández; Katarzyna Kotulska; Sergiusz Jóźwiak
Journal:  J Am Acad Dermatol       Date:  2007-08       Impact factor: 11.527

Review 10.  CT and MR imaging of cerebral tuberous sclerosis.

Authors:  Y Inoue; Y Nemoto; R Murata; T Tashiro; M Shakudo; K Kohno; O Matsuoka; K Mochizuki
Journal:  Brain Dev       Date:  1998-06       Impact factor: 1.961

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  5 in total

1.  Metaplastic bone in a cortical tuber of a young patient with tuberous sclerosis complex.

Authors:  A Gallagher; A Kovach; A Stemmer-Rachamimov; A E Rosenberg; E Eskandar; E A Thiele
Journal:  Neurology       Date:  2011-05-03       Impact factor: 9.910

2.  Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation.

Authors:  Joel S Katz; Hyman Frankel; Tracy Ma; David Zagzag; Benjamin Liechty; Bruria Ben Zeev; Michal Tzadok; Orrin Devinsky; Howard L Weiner; Jonathan Roth
Journal:  Childs Nerv Syst       Date:  2017-01-10       Impact factor: 1.475

3.  α-[11C]-Methyl-L-tryptophan--PET in 191 patients with tuberous sclerosis complex.

Authors:  Harry T Chugani; Aimee F Luat; Ajay Kumar; Rajkumar Govindan; Kathy Pawlik; Eishi Asano
Journal:  Neurology       Date:  2013-07-12       Impact factor: 9.910

4.  Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome.

Authors:  Soo Min Park; Young Jin Lee; Young Joon Son; Young Ok Kim; Young Jong Woo
Journal:  Chonnam Med J       Date:  2011-12-26

5.  Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study.

Authors:  Sabine E Mous; Iris E Overwater; Rita Vidal Gato; Jorieke Duvekot; Leontine W Ten Hoopen; Maarten H Lequin; Marie-Claire Y de Wit; Gwendolyn C Dieleman
Journal:  Eur Child Adolesc Psychiatry       Date:  2017-10-23       Impact factor: 4.785

  5 in total

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