Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy
Abstract
:1. Introduction
2. Imaging the Lymphatic System
3. Clinical Manifestation Compared to Radiological Findings in Patients with NS
Literature Review
4. Possible Implications for Therapeutic Options
5. Future Research Opportunities
6. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Nr. | Age (y) (m/f) | Clinical Manifestation of Lymphatic Disease | Radiological Findings | Reference | ||
---|---|---|---|---|---|---|
TD | Flow abnormalities | Other findings | ||||
1 | 14 (f) | CT, PLE, MLA, RLA | ND | Retrograde mesenteric and pulmonary flow | Leak of contrast into duodenal lumen, abnormal CLS | Dori, Y [13] |
2 | 13 (m) | LE, PLE, HT | ND | Pleural fluids ascites | oedematous intestine | Keberle, M [17] |
3 | 17 (f) | PLE | absent | ND | abdominal collateral lymphatics and bilateral iliac lymphangiectasia | Matsumoto, T [16] |
4 | 61 (m) | LE, SLE | Occlusion at the neck | Increased pelvic and retroperitoneal flow | PLA, abdominal ascites | Othman, S [15] |
5 | 0.9 (f) | CT | Dilated | Bilateral perfusion | - | Biko [1] |
6 | 0.6 (m) | CT | Double duct, central TD not present | Bilateral perfusion | Body wall edema | Biko [1] |
7 | 0.1 (m) | CT | ND | Bilateral pleural effusions | Body wall edema, ascites | Biko [1] |
8 | 0.8 (m) | CT, ascites | absent | Bilateral perfusion | Body wall edema, ascites | Biko [1] |
9 | 7 (f) | CT | absent | Bilateral perfusion | Pericardial effusion, ascites | Biko [1] |
10 | 0.2 (m) | CT | absent | Bilateral perfusion | Body wall edema | Biko [1] |
11 | 0.1 (f) | CT | rudimentary | Bilateral perfusion | ascites | Biko [1] |
12 | 0.1 (f) | CT | Double duct | Perfusion right lung | - | Biko [1] |
13 | 0.1 (m) | CT, anasarca | Dilated | Bilateral perfusion | Network of lymphatic collaterals in left neck, body wall edema, ascites | Biko [1] |
14 | 5 (m) | ascites | absent | Peritoneum perfusion | Ascites | Biko [1] |
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Kleimeier, L.E.R.; van Schaik, C.; Leenders, E.; Itkin, M.; Klein, W.M.; Draaisma, J.M.T. Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy. J. Clin. Med. 2022, 11, 3128. https://doi.org/10.3390/jcm11113128
Kleimeier LER, van Schaik C, Leenders E, Itkin M, Klein WM, Draaisma JMT. Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy. Journal of Clinical Medicine. 2022; 11(11):3128. https://doi.org/10.3390/jcm11113128
Chicago/Turabian StyleKleimeier, Lotte E. R., Caroline van Schaik, Erika Leenders, Maxim Itkin, Willemijn M. Klein, and Jos M. T. Draaisma. 2022. "Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy" Journal of Clinical Medicine 11, no. 11: 3128. https://doi.org/10.3390/jcm11113128