Noonan Syndrome Presenting as Lymphoedema Precox

Haque, Azizul; Sharmin, Laila Shamima; Amin, Zahid; Ekram, Arm Saifuddin

doi:10.3329/jom.v13i2.12771

Cited by 1 publication

(2 citation statements)

References 8 publications

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“…We looked at the most common postnatal presentations. Based on this literature review, we can agree with Haque et al [2012] that later onset of lymphatic abnormalities in NS might result in a milder phenotype.…”

Section: Discussionsupporting

confidence: 75%

“…Previous research suggested that the lymphatic phenotype may be present in various ways, including variation in timing of appearance and resolution of edema at different ages. Prenatal onset of lymphatic abnormalities might result in a more severe phenotype, whereas postnatal presentation may result in a milder phenotype [Haque et al, 2012]. We looked at the most common postnatal presentations.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review

Sleutjes¹,

Kleimeier²,

Leenders

et al. 2021

Mol Syndromol

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Noonan syndrome spectrum disorders are a group of phenotypically related conditions, resembling Noonan syndrome, caused by germline pathogenic variants in genes within the Ras/mitogen-activated protein kinase (Ras/MAPK) signalling pathway. Lymphatic dysplasia with a clinical lymphatic abnormality is one of the major features. We performed a systematic review to get more insight in (1) the prevalence of clinically lymphatic abnormalities in patients with a genetically proven Noonan syndrome spectrum disorder, (2) if a genotype-lymphatic phenotype relation can be found and describe the clinical presentation and course of the lymphatic abnormality. Most studies report patients with Noonan syndrome. Prenatally, the prevalence of increased nuchal translucency differs from 7% in patients with pathogenic PTPN11 variants to 38% in patients with pathogenic RIT1 variants, and the prevalence of pleural effusions differed from 7% in patients with pathogenic SOS1 to 29% in patients with pathogenic RIT1 variants. Postnatally, the prevalence of lymphedema differs from 16% in patients with pathogenic PTPN11 variants to 44% in patients with pathogenic SOS1 variants, and the prevalence of acquired chylothorax is 4% in patients with pathogenic RIT1 variants. Lymphatic abnormalities do occur in patients with cardiofaciocutaneous syndrome and Costello syndrome. In conclusion, Noonan syndrome spectrum disorders, Noonan syndrome in particular, are associated with lymphatic abnormalities. Combining the available published literature about genetically proven Noonan syndrome spectrum disorders, it appears likely that the lifetime prevalence of these abnormalities in Noonan syndrome is higher than the 20% that were generally accepted so far. This is increasingly important, because the activation of the RAS/MAPK pathway can be inhibited by RAS/MAPK inhibitors, and clinically severe lymphatic abnormalities may improve.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 99%