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Neuroimaging in pediatric phakomatoses. An educational review
Iulian Raus1, Roxana Elena Coroiu2, Cosmin Serban Capusan1
1Radiology Department, Dr. Constantin Papilian Military and Emergency Hospital of Cluj-Napoca, Romania.
Insights
Phakomatoses are rare genetic disorders affecting the nervous system and skin. This review highlights key radiological findings from MRI and CT scans, aiding in early diagnosis and patient management.
Area of Science:
- Medical Imaging
- Radiology
- Genetics
Background:
- Phakomatoses encompass over 30 inherited conditions affecting the central nervous system, skin, viscera, and connective tissues.
- These disorders present with significant variability and age-dependent manifestations, complicating diagnosis and management.
Purpose of the Study:
- To provide an educational review of common radiological findings in phakomatoses.
- To illustrate characteristic imaging features using a decade of MRI and CT data.
- To enhance understanding of the diverse spectrum of phakomatosis diseases.
Main Methods:
- Retrospective analysis of radiological cases over ten years.
- Utilized Magnetic Resonance Imaging (MRI) and Computer Tomography (CT) techniques.
- Focused on identifying and illustrating common imaging patterns associated with phakomatoses.
Main Results:
- Detailed description and illustration of radiological findings for common phakomatoses.
- Demonstrated the utility of MRI and CT in visualizing disease-specific features.
- Highlighted the age-dependent nature of imaging findings.
Conclusions:
- Imaging techniques are crucial for diagnosing and monitoring phakomatoses.
- Early diagnosis and intervention are vital for improved patient outcomes.
- Screening programs could help prevent delayed diagnosis and facilitate timely treatment.
Abstract:
Phakomatoses are a group of more than 30 entities with an inheritance pattern that primarily affects the central nervous system, skin, viscera and connective tissue. The aim of this paper is to make an educational review of the most common radiological findings on phakomatoses through the iconography of the cases collected in our magnetic resonance imaging (MRI) and computer tomography (CT) units over the last ten years. Also, we describe and illustrate by these techniques the main features of the most common entities within the wide spectrum of diseases. As highly variable and age dependent, imaging techniques have an important role in the diagnosis and follow-up of these patients. Increased awareness for the need to implement and conduct screening programs could be considered as a solution to prevent late diagnosis and to treat the patients in early stages of disease.