Imaging patterns in pediatric hypophosphatasia

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.