Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child

Area of Science:

• Genetics
• Pediatrics
• Pharmacology

Background:

• PDGFRB-related Penttinen syndrome presents with progeroid features, acroosteolysis, and vascular anomalies.
• Existing PDGFRB-related disorders have responded to imatinib treatment.
• This case focuses on a child diagnosed with Penttinen syndrome in infancy.

Purpose of the Study:

• To evaluate the efficacy and safety of early imatinib monotherapy in a child with Penttinen syndrome.
• To assess the impact of imatinib on the progressive features of the syndrome.
• To monitor for the development of complications such as aneurysms and acroosteolysis.

Main Methods:

• A child diagnosed with Penttinen syndrome at infancy received imatinib monotherapy starting at 8 months of age.
• Treatment was continued for 4 years, with ongoing monitoring of clinical features and vascular status.
• Clinical assessments included hair growth, skin texture, joint mobility, and growth parameters.

Main Results:

• Imatinib was well-tolerated with no apparent side effects.
• Significant improvements were observed in hair growth, skin texture, and joint stiffness within months.
• The patient did not develop acroosteolysis or aneurysms during the 4-year treatment period.
• Mild developmental delays were noted, with ongoing evaluation for autism spectrum disorder.

Conclusions:

• Early initiation of imatinib monotherapy is effective in ameliorating key features of Penttinen syndrome.
• Imatinib appears to prevent the development of serious complications like acroosteolysis and aneurysms.
• Long-term safety and efficacy require continued observation, but early results are highly encouraging.