Effects of MEK-inhibitor treatment in infants with lymphatic abnormalities in noonan syndrome
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By
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J. Wagenpfeil
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K. Hoß
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A. Henkel
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D. L. Kütting
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J. A. Luetkens
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A. Mueller
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C. C. Pieper
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A. Groteklaes
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July 15, 2026
Clinical Scorecard: Impact of MEK-inhibitor Therapy on Lymphatic Abnormalities in Infants Diagnosed with Noonan Syndrome
At a Glance
| Category | Detail |
|---|
| Condition | Noonan Syndrome |
| Key Mechanisms | Dysregulation of the RAS/MAPK signaling pathway leading to lymphatic abnormalities. |
| Target Population | Infants diagnosed with Noonan syndrome and lymphatic abnormalities. |
| Care Setting | Pediatric clinical setting with specialized treatment for lymphatic disorders. |
Key Highlights
- MEK inhibitor Trametinib was used in six infants with refractory lymphatic abnormalities.
- All patients showed considerable clinical improvement after one year of therapy.
- None required chest drainage, and MR lymphangiography showed decreased pleural effusions.
- Lymphatic imaging did not demonstrate normalization of lymphatic anatomy or flow.
- Pathologic pulmonary and pleural lymphatic perfusion decreased in all cases.
Guideline-Based Recommendations
Diagnosis
- Genetic confirmation of Noonan syndrome.
- Assessment of lymphatic abnormalities through dedicated imaging.
Management
- Consideration of MEK-inhibitor therapy for refractory lymphatic complications.
Monitoring & Follow-up
- Regular clinical follow-up and imaging to assess lymphatic abnormalities.
Risks
- Potential adverse events associated with MEK-inhibitor therapy.
Patient & Prescribing Data
Six infants with genetically confirmed Noonan syndrome and refractory lymphatic abnormalities.
Initial Trametinib dose was 0.02 mg/kg/day, adjusted based on side effects.
Clinical Best Practices
- Utilize interdisciplinary boards for treatment decisions in rare lymphatic diseases.
- Informed consent should be obtained for off-label drug use.
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