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Phakomatoses: A pictorial review.

M Sarthak Swarup1, Swati Gupta1, Sapna Singh1

  • 1Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.

The Indian Journal of Radiology & Imaging
|October 26, 2020
PubMed
Summary

Phakomatoses, or neurocutaneous syndromes, are a diverse group of over 30 disorders affecting the central nervous system and potentially other tissues. This study illustrates common radiological findings in these complex conditions.

Keywords:
Central nervous systemmagnetic resonance imagingneurocutaneousneurofibromatosisphakomatoses

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Area of Science:

  • Radiology
  • Neurology
  • Genetics

Background:

  • Phakomatoses, also known as neurocutaneous syndromes, represent a heterogeneous group of genetic disorders.
  • Over 30 distinct entities are currently recognized within this classification.
  • These conditions primarily impact the central nervous system but can involve skin, viscera, and connective tissues.

Purpose of the Study:

  • To describe and illustrate the radiological findings associated with common phakomatoses.
  • To enhance the understanding of the variable clinical and radiological presentations of neurocutaneous syndromes.

Main Methods:

  • Retrospective review of cases diagnosed with phakomatoses within the department.
  • Iconographic presentation of radiological findings from selected common entities.
  • Correlation of imaging findings with clinical data.

Main Results:

  • Detailed radiological characteristics of prevalent neurocutaneous syndromes are presented.
  • Illustrations showcase the spectrum of central nervous system and extraneural manifestations.
  • Variability in radiological presentation across different phakomatoses is highlighted.

Conclusions:

  • Radiological imaging plays a crucial role in diagnosing and characterizing phakomatoses.
  • Familiarity with the diverse imaging patterns is essential for accurate diagnosis.
  • This pictorial review aids in recognizing common neurocutaneous syndromes through their characteristic radiological features.