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Published on: December 6, 2016
Neuroimaging of phakomatoses
Doris D M Lin1, Peter B Barker
1Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. ddmlin@jhmi.edu
Seminars in Pediatric Neurology
|July 5, 2006
Summary
Phakomatoses are congenital disorders affecting the nervous system and skin. Advanced imaging techniques, including CT, MRI, and functional imaging, are crucial for diagnosing and managing these conditions.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Phakomatoses are congenital disorders characterized by abnormalities in the central nervous system and skin.
- These conditions predominantly affect ectodermal structures like the skin, nervous system, and eyes.
- Key examples include neurofibromatosis (types 1 and 2), tuberous sclerosis, Sturge-Weber disease, and von Hippel-Lindau disease.
Purpose of the Study:
- To review the role of various imaging modalities in the diagnosis and management of phakomatoses.
- To highlight the application of conventional and advanced imaging techniques in evaluating these complex disorders.
Main Methods:
- Review of imaging applications in common phakomatoses.
- Discussion of conventional imaging: X-ray computed tomography (CT) and magnetic resonance imaging (MRI).
- Exploration of advanced functional imaging techniques: positron emission tomography (PET), magnetic resonance perfusion imaging, and spectroscopy.
Main Results:
- CT and MRI are vital for diagnosing phakomatoses, assessing disease extent, and guiding surgical interventions.
- Functional imaging techniques offer complementary information for a comprehensive understanding of these disorders.
- The choice of imaging modality depends on the specific phakomatosis and clinical question.
Conclusions:
- Comprehensive neuroimaging, encompassing both structural and functional techniques, is essential for optimal patient care in phakomatoses.
- Accurate diagnosis and staging through advanced imaging facilitate timely and effective treatment strategies.
- Continued research into novel imaging techniques may further improve the management of phakomatoses.
