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The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
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Related Experiment Video

Updated: Oct 11, 2025

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Imaging patterns in pediatric hypophosphatasia.

Inès Mannes1,2, Anya Rothenbuhler3,4, Valérie Merzoug5

  • 1Faculty of Medicine, Paris-Saclay University, 63 rue Gabriel Péri, 94270, Le Kremlin Bicêtre, France. ines.mannes@aphp.fr.

Pediatric Radiology
|December 2, 2021
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia, a rare genetic disorder affecting bone and teeth mineralization, presents with low alkaline phosphatase. Imaging is crucial for diagnosis and monitoring new enzyme replacement therapies.

Keywords:
Alkaline phosphataseChildrenComputed tomographyHypophosphatasiaRadiographyWhole-body magnetic resonance imaging

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Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Radiology

Background:

  • Hypophosphatasia is a rare genetic disorder caused by ALPL gene mutations, affecting calcium and phosphate metabolism.
  • It leads to defective bone and teeth mineralization, characterized by low serum alkaline phosphatase activity and various clinical symptoms.

Purpose of the Study:

  • To review the diagnostic and follow-up imaging features of hypophosphatasia.
  • To highlight the role of imaging in monitoring treatment efficacy for this condition.

Main Methods:

  • Review of clinical, laboratory, and imaging findings in hypophosphatasia.
  • Focus on characteristic imaging features at diagnosis and during treatment follow-up.
  • Inclusion of whole-body magnetic resonance imaging patterns.

Main Results:

  • Diagnosis is often delayed in children due to lack of awareness, despite key imaging findings.
  • Specific imaging features are essential for diagnosis and monitoring treatment response.
  • Enzyme replacement therapy has increased the importance of imaging in patient management.

Conclusions:

  • Imaging plays a pivotal role in the diagnosis and management of hypophosphatasia.
  • Recognizing characteristic imaging patterns is vital for timely diagnosis and assessing treatment efficacy.
  • Whole-body MRI provides valuable insights into disease presentation and progression.