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The central nervous system manifestations of the phakomatoses on MR
B H Braffman1, L T Bilaniuk, R A Zimmerman
1Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia.
Radiologic Clinics of North America
|July 1, 1988
Abstract:
The historical, epidemiologic, clinical, and pathologic features of the phakomatoses are briefly reviewed in this article. The central nervous system manifestations of the phakomatoses on MR also are illustrated and described.
Insights
This review covers the historical, epidemiologic, clinical, and pathologic aspects of phakomatoses. It also details central nervous system manifestations of these conditions using MRI.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Phakomatoses are a group of inherited neurocutaneous disorders.
- These conditions affect multiple organ systems, primarily the nervous system, skin, and eyes.
- Understanding their diverse features is crucial for diagnosis and management.
Purpose of the Study:
- To provide a comprehensive overview of the phakomatoses.
- To highlight the key historical, epidemiologic, clinical, and pathologic characteristics.
- To illustrate and describe central nervous system (CNS) manifestations on Magnetic Resonance (MR) imaging.
Main Methods:
- Literature review of historical, epidemiologic, clinical, and pathologic data.
- Analysis and description of CNS findings in phakomatoses.
- Illustration of characteristic MR imaging features.
Main Results:
- Phakomatoses present with a wide range of clinical and pathological findings.
- CNS involvement is a hallmark of many phakomatoses.
- MR imaging is essential for visualizing and characterizing CNS abnormalities.
Conclusions:
- Phakomatoses require a multidisciplinary approach for effective management.
- Detailed understanding of their features aids in early diagnosis and treatment.
- MR imaging plays a pivotal role in the evaluation of CNS involvement in phakomatoses.