Pulmonary Lymphangiectasia Demonstrated by Lymphangiography in 2 Patients with Noonan's Syndrome

Baltaxe, Harold A.; Lee, Jack G.; Ehlers, Kathryn H.; Engle, Mary Allen

doi:10.1148/115.1.149

Cited by 45 publications

(16 citation statements)

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“…Lymphangiectasia affecting the gastrointestinal tract and lungs has presented in infants and children with this disorder [Baltaxe et al, 1975;Herzog et al, 1976;Hernandez et al, 1980;Fisher et al, 1982;Ozturk et al, 2000]. The former complication may lead to protein-losing enteropathy and the latter to spontaneous chylothorax, both being difficult to manage.…”

Section: Clinical Featuresmentioning

confidence: 99%

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

2010

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Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. Other associated features include ectodermal and skeletal defects, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition to hematologic malignancies during childhood. NS is caused by mutations in the PTPN11, SOS1, KRAS, RAF1, BRAF and MEK1 (MAP2K1) genes, accounting for approximately 70% of affected individuals. SHP2 (encoded by PTPN11), SOS1, BRAF, RAF1 and MEK1 positively contribute to RAS-MAPK signaling, and possess complex autoinhibitory mechanisms that are impaired by mutations. Similarly, reduced GTPase activity or increased guanine nucleotide release underlie the aberrant signal flow through the MAPK cascade promoted by most KRAS mutations. More recently, a single missense mutation in SHOC2, which encodes a cytoplasmic scaffold positively controlling RAF1 activation, has been discovered to cause a closely related phenotype previously termed Noonan-like syndrome with loose anagen hair. This mutation promotes aberrantly acquired N-myristoylation of the protein, resulting in its constitutive targeting to the plasma membrane and dysregulated function. PTPN11, BRAF and RAF1 mutations also account for approximately 95% of LEOPARD syndrome, a condition which resembles NS phenotypically but is characterized by multiple lentigines dispersed throughout the body, café-au-lait spots, and a higher prevalence of electrocardiographic conduction abnormalities, obstructive cardiomyopathy and sensorineural hearing deficits. These recent discoveries demonstrate that the substantial phenotypic variation characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved.

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Section: Clinical Featuresmentioning

confidence: 99%

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

2010

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“…Usually, the radiographic appearances of the lungs of patients with lymphangiectasis are abnormal and show a generalized congestive pattern of increased pulmonary vascular marking [6] or a reticulonodular pattern due to cystic pulmonary lymphatics in infants [6,7,8] and adults [9]. In some cases, early stage of lymphangiectasis were diagnosed by lymphangiography [7].…”

Section: Discussionmentioning

confidence: 99%

“…In some cases, early stage of lymphangiectasis were diagnosed by lymphangiography [7]. In accordance with the anatomical abnormality, a thickening of the interstitium may be seen on chest CT images, and Baltaxe et al [8] stressed that patchy subpleural and perihilar ground-glass opacity fixed in location may be useful and characteristic findings of this disease. Noonan et al [2] characterized this disease entity and subclassified it into the following: (1) generalized form of pulmonary lymphangiectasis, (2) secondary to pulmonary venous hypertension or obstruction and (3) primary developmental defect of the lung.…”

Section: Discussionmentioning

confidence: 99%

“…Noonan et al [2] characterized this disease entity and subclassified it into the following: (1) generalized form of pulmonary lymphangiectasis, (2) secondary to pulmonary venous hypertension or obstruction and (3) primary developmental defect of the lung. The congenital form is associated with a high mortality rate, and few children with the disease survive beyond infancy [8]. …”

Section: Discussionmentioning

confidence: 99%

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Pulmonary Lymphangiectasis in an Asymptomatic Adult

Okumura

Takeda²,

Sawabata³

et al. 2006

Respiration

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Pulmonary lymphangiectasis is a rare anomaly in infancy that is characterized by dilatation of pulmonary lymphatic vessels resulting in fetal respiratory distress. Pulmonary lymphangiectasis is considered to occur exclusively in young children and neonates, and very few survive beyond an early age. We herein present an asymptomatic adult case of localized pulmonary lymphangiectasis with multiple nodules. A 27-year-old asymptomatic female presented with multiple nodules on chest computed tomogram images. An exploratory video-assisted thoracoscopy revealed multiple yellowish cysts on the visceral pleura, which were histologically diagnosed as lymphangiectasis. In the present study, the pathogenesis and clinical characteristics are discussed.

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“…Most cases are sporadic and, although familial occurrences of this condition have been described [4][5][6], no genetic aetiology has been identified. PPL has been described in association with a number of chromosomal anomalies [7] and in patients with Noonan9s syndrome [8][9][10][11]. In addition, PPL is often described in association with cardiac anomalies [12] that are not associated with pulmonary venous hypertension.…”

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confidence: 99%

Primary pulmonary lymphangiectasia in infancy and childhood

Barker¹

2004

European Respiratory Journal

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Primary pulmonary lymphangiectasia (PPL) is a rare disorder of unknown aetiology characterised by dilatation of the pulmonary lymphatics. PPL is widely reported to have a poor prognosis in the neonatal period and little is known about the clinical features of patients who survive the newborn period.The current authors report the outcome in nine patients diagnosed in infancy with PPL over a 15-yr period at a single university-based hospital clinic and followed for a median of 6 yrs.Although all of the patients initially experienced respiratory distress, respiratory symptoms improved in most patients after infancy and were notably better by the age of 6 yrs. Many patients had poor weight gain in the first years of life, which eventually improved. Radiological scans showed progressive resolution of neonatal infiltrates, but were characterised by hyperinflation and increased interstitial markings in older children. Most patients had evidence of bronchitis and grew pathogenic organisms from quantitative bronchoalveolar lavage culture. Pulmonary function tests showed predominantly obstructive disease that did not deteriorate over time.In conclusion, these results suggest that primary pulmonary lymphangiectasia does not have as dismal a prognosis as previously described and symptoms and clinical findings improve after the first year of life.

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Pulmonary Lymphangiectasia Demonstrated by Lymphangiography in 2 Patients with Noonan's Syndrome

Cited by 45 publications

References 4 publications

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Pulmonary Lymphangiectasis in an Asymptomatic Adult

Primary pulmonary lymphangiectasia in infancy and childhood

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