Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome

Article Genetics & Heredity

Enlarged spinal nerve roots in RASopathies: Report of two cases

Leoni Chiara et al.

Summary: RASopathies are genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. This study reports on enlarged spinal nerve roots resembling neurofibromas in patients with Noonan syndrome and cardio-facio-cutaneous syndrome, suggesting it as a shared feature among RASopathies. Further research is needed to understand the molecular mechanisms leading to neurogenic tumor development in these patients.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)

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Article Clinical Neurology

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy

Yoshihito Ando et al.

Summary: A case study of a female patient with clinical features resembling Noonan syndrome, who was initially misdiagnosed with Charcot-Marie-Tooth disease but later confirmed to have RASopathy. Genetic analysis identified a causal mutation in the KRAS gene and suggested a possible association between nerve root hypertrophy and RASopathies.

CASE REPORTS IN NEUROLOGY (2021)

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Article Genetics & Heredity