Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome

Tsang, Hannah Y.; Cheung, Yiu‐fai; Leung, Maurice P.; Chau, K. T.

doi:10.1002/1522-726x(200012)51:4<441::aid-ccd13>3.0.co;2-x

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…Noonan syndrome is associated with different lymphatic abnormalities 2 , 9 – 17 . We describe a cohort of pediatric and adult Noonan-patients with a wide spectrum of clinical lymphatic pathologies in whom DCMRL demonstrated widespread morphological and functional CLS abnormalities.…”

Section: Discussionmentioning

confidence: 99%

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MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

Pieper

Wagenpfeil

Henkel

et al. 2022

Sci Rep

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Noonan syndrome is associated with complex lymphatic abnormalities. We report dynamic-contrast enhanced MR lymphangiography (DCMRL) findings in children and adults with Noonan syndrome to further elucidate this complex disease spectrum. A retrospective evaluation of patients with confirmed Noonan syndrome and clinical signs of lymphatic dysfunction undergoing DCMRL between 01/2019 and 04/2021 was performed. MRL included T2-weighted imaging (T2w) and DCMRL. Clinical history/presentation and genetic variants were recorded. T2w-imaging was evaluated for central lymphatic abnormalities and edema distribution. DCMRL was evaluated regarding the presence of cisterna chyli/thoracic duct, lymphatic leakages, pathological lymphatic reflux and abnormal lymphatic perfusion. The time from start of contrast-injection to initial enhancement of the thoracic duct venous junction was measured to calculate the speed of contrast propagation. Eleven patients with Noonan syndrome with lymphatic abnormalities (5 female, 6 male; 7 infants, 4 adults; mean age 10.8 ± 16.4 years) were identified (PTPN11 n = 5/11 [45.5%], RIT1 n = 5/11 [45.5%], KRAS n = 1/11 [9%]). Patients had a chylothorax (n = 10/11 [91%]) and/or pulmonary lymphangiectasia [dilated pulmonary lymph vessels] (n = 9/11 [82%]). Mediastinal/pulmonary edema was depicted in 9/11 (82%) patients. The thoracic duct (TD) was (partially) absent in 10/11 (91%) cases. DCMRL showed lymphatic reflux into intercostal (n = 11/11 [100%]), mediastinal (n = 9/11 [82%]), peribronchial (n = 8/11 [73%]), peripheral (n = 5/11 [45.5%]) and genital lymphatics (n = 4/11 [36%]). Abnormal pulmonary/pleural lymphatic perfusion was seen in 8/11 patients (73%). At infancy peripheral/genital edema was more prevalent in patients with RIT1 than PTPN11 (n = 3/5 vs. n = 0/5). Compared to patients with PTPN11 who had fast lymphatic enhancement in 4/5 patients, enhancement took markedly longer in 4/5 patients with RIT1-mutations. Thoracic duct dysplasia, intercostal reflux and pulmonary/pleural lymphatic perfusion are characteristic findings in patients with Noonan syndrome presenting with chylothorax and/or pulmonary lymphangiectasia. Central lymphatic flow abnormalities show possible phenotypical differences between PTPN11 and RIT1-mutations.

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Section: Discussionmentioning

confidence: 99%

“…Noonan syndrome has also been associated with lymphatic abnormalities in approximately 15–20% of cases, including lymphedema, pulmonary lymphangiectasia (i.e. dilated pulmonary lymph vessels) and chylothorax 2 , 9 – 17 . Lymphatic anomalies can be present in the neonatal period or develop later in life (e.g.…”

Section: Introductionmentioning

confidence: 99%

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

Pieper

Wagenpfeil

Henkel

et al. 2022

Sci Rep

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“…, 229 – 231 Post-operative pericardial and pleural effusions were not significantly increased in a series of ~120 operations 213 . Cutaneous leaking of lymphatic fluid from a femoral vascular access site due to lymphangiectasia has been reported during cardiac catheterisation 232 …”

Section: The Presence Of a Specific Genetic Syndrome Impacts Early Pementioning

confidence: 99%

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

2015

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CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes – for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.

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“…Lymphedema, mainly due to hypoplasia or dysplasia of lymphatic vessels, is also a clinical manifestation of NS. The estimated lifetime prevalence of lymphatic abnormalities in NS patients is 20%, including lymphedema, chylothorax and pulmonary lymphangiectasia ( Tsang et al, 2000 ; Romano et al, 2010 ; Kouz et al, 2016 ; Biko et al, 2019 ). The most common lymphatic abnormality is lymphedema, which usually appears at birth and disappears in early childhood ( Bloomfield et al, 1997 ; Ho et al, 2003 ).…”

Section: Introductionmentioning

confidence: 99%

Case report: Noonan syndrome with protein-losing enteropathy

Ou,

Yuan,

Zheng

et al. 2023

Front. Genet.

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Background: Noonan syndrome (NS) is characterized by typical facial features, short stature, congenital heart defects and other comorbidities. Lymphedema and chylous pleural effusions are also common in NS, but protein-losing enteropathy (PLE) is rarely reported.Case presentation: We present the case of a 19-year-old Chinese woman presenting with PLE. Small intestine biopsy showed obvious expansion of lymphatic vessels. The gene mutation results of the patient indicated a c.184T>G missense mutation (p.Tyr62Asp) in the PTPN11 gene (NM_002834.3).Conclusion: NS accompanied by PLE is not common, but hypoproteinemia attributable to PLE may be more common in patients with NS than previously thought. It remains uncertain whether mutation of the PTPN11 gene is related to PLE, indicating that further research is needed.

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Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome

Cited by 6 publications

References 9 publications

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

MR lymphangiography of lymphatic abnormalities in children and adults with Noonan syndrome

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes

Case report: Noonan syndrome with protein-losing enteropathy

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