Tuberous sclerosis presenting in late adult life

M Zarei, VP Collins, S Chandran, D Valler, JNP Higgins, DAS Compston, JRW Yates

Research output: Contribution to journalArticlepeer-review

Abstract

A 59 year old woman presented with a three year history of left sided weakness. Magnetic resonance imaging of the brain showed a large high signal lesion occupying most of the right temporal lobe with mass effect. A probable diagnosis of low grade glioma led to temporal lobectomy. Histology revealed dysplastic cortical morphology typical of tuberous sclerosis. There were no clinical signs or family history of the disease. Ultrasound showed multiple bilateral renal angiomyolipomas, confirming the diagnosis of tuberous sclerosis. Molecular genetic analysis of peripheral white blood cells identified a novel mis-sense mutation R1409W in exon 33 of the TSC2 gene.

Original languageEnglish
Pages (from-to)436-438
Number of pages3
JournalJournal of Neurology, Neurosurgery & Psychiatry
Volume73
Issue number4
Publication statusPublished - Oct 2002

Keywords

  • COMPLEX
  • TSC1

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