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Computed tomographic findings in bourneville-pringle disease
1Department of Diagnostic Radiology, Eberhard-Karls-University of Tuebingen, Germany.
European Journal of Medical Research
|August 13, 2003
Summary
Bourneville-Pringle disease, also known as tuberous sclerosis, is a neuroectodermal disorder. This review highlights computed tomographic findings in an oligosymptomatic adult patient, emphasizing late-onset clinical symptoms.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Bourneville-Pringle disease (tuberous sclerosis) is a rare neuroectodermal disorder.
- Typically diagnosed in early childhood due to a triad of adenoma sebaceum, intellectual disability, and seizures.
- Multisystemic involvement affects visceral organs, vasculature, and the skeletal system.
Observation:
- This case study focuses on an oligosymptomatic 36-year-old woman.
- The patient presented with late-onset clinical manifestations of Bourneville-Pringle disease.
- Computed tomography (CT) was utilized to evaluate the findings.
Findings:
- CT imaging revealed characteristic morphological changes associated with tuberous sclerosis.
- The findings correlated with the patient's oligosymptomatic presentation and late disease onset.
- This highlights the variability in clinical presentation and diagnostic utility of CT.
Implications:
- Computed tomography is crucial for diagnosing Bourneville-Pringle disease, especially in atypical late-onset cases.
- Understanding CT findings aids in early detection and management of multisystemic complications.
- This case underscores the importance of considering tuberous sclerosis in adults with subtle or delayed symptoms.