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Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study
F J K O'Callaghan1, C N Martyn, S Renowden
1Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK. finbar.ocallaghan@bristol.ac.uk
Archives of Disease in Childhood
|May 6, 2008
Summary
Tuberous sclerosis (TSC) patients with symptomatic giant cell astrocytomas (GCAs) were studied. Many asymptomatic TSC patients showed GCA indicators on MRI, leading to a recommendation against routine screening.
Area of Science:
- Neurology
- Oncology
- Radiology
Background:
- Tuberous sclerosis (TSC) is a genetic disorder that can lead to the development of tumors, including giant cell astrocytomas (GCAs).
- GCAs in TSC patients can be asymptomatic and detected incidentally or through screening.
Purpose of the Study:
- To determine the prevalence of symptomatic GCAs in a population-based cohort of TSC patients.
- To assess the rate of GCA diagnosis in asymptomatic TSC patients using specific radiological criteria.
Main Methods:
- A population-based study identified 179 TSC patients in Wessex, England.
- A subset of 41 patients without a history of symptomatic GCA underwent cranial MRI.
- Scans were analyzed blindly by a neuroradiologist for GCA indicators.
Main Results:
- 5.6% of TSC patients had a history of symptomatic GCA.
- In the asymptomatic subset, 59% showed gadolinium enhancement in subependymal nodules, and 17% had lesions >1 cm.
Conclusions:
- The high rate of radiological GCA findings in asymptomatic TSC patients suggests significant subclinical disease.
- Routine screening for GCAs in all TSC patients is not recommended due to the potential for high detection rates without clear clinical benefit.
