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PMID: 12235314 Published · ppublish English

Tuberous sclerosis presenting in late adult life.

Zarei M, Collins V P, Chandran S, Valler D, Higgins J N P, Compston D A S, Yates J R W

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.

Article Info
Journal
Journal of neurology, neurosurgery, and psychiatry
Abbr.
J Neurol Neurosurg Psychiatry
Published
2002-10-23
Indexed
2002-09-17
Updated
2008-11-20
Language
English
Country/Region
England
NLM ID
2985191R
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