Pulmonary lymphangiectasis in Noonan syndrome

Hernández, Ramiro J.; Stern, Aaron; Rosenthal, Amnon

doi:10.2214/ajr.134.1.75

Cited by 44 publications

(18 citation statements)

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“…Five papers describing 9 patients report the occurrence of pulmonary lymphangiectasis in N S [Baltaxe et al, 1975;Fisher et al, 1982;Gardner et al, 1983;Hernandez et al, 1980;Schulman et al, 19781. This finding was confirmed by lymphangiography and/or biopsy in all of the cases.…”

Section: Discussionmentioning

confidence: 99%

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

Witt

Hoyme²,

Zonana³

et al. 1987

Am. J. Med. Genet.

132

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The Noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with numerous manifestations. An association with lymphedema has been noted, but its pathogenesis is not fully understood. Nine new cases and a review of the literature explore the role of lymphedema in NS, including its pathogenesis, presentations, and phenotypic effects. Consideration is given to developmental stage at time of onset, chronicity, resolution, and anatomic site. It appears likely that lymphedema is a much more frequent concomitant in NS than previously realized. The major source of lymphedema in NS appears to be a presently undefined dysplasia of lymphatic vessels of unknown cause. Further study of lymphedema may provide an understanding of its role in shaping the NS phenotype. Comparison with other MCA syndromes and animal models is made in this regard. Relevance to prenatal diagnosis and treatment is discussed.

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Section: Discussionmentioning

confidence: 99%

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

Witt

Hoyme²,

Zonana³

et al. 1987

Am. J. Med. Genet.

132

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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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“…Another case of this abnormality was described by Herzog et al [ 19761. Also pulmonary lymphangiectasia was demonstrated [Baltaxe et al, 1975;Fisher et al, 1982;Gardner et al, 1983;Hernandez et al, 1980;Lanning et al, 19781. Smith et a1 [1979] studied a patient with chylothorax and protein-losing enteropathy .…”

Section: The Lymphatic Dysplasiamentioning

confidence: 99%

Noonan syndrome: A review

1985

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After an introduction dealing with the "historical evolution" of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves special attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual-motor disabilities, and endocrine evaluation) are also described.

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Pulmonary lymphangiectasis in Noonan syndrome

Cited by 44 publications

References 1 publication

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

Noonan syndrome: A review

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