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

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

We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated and nerve conduction velocity was reduced. How...

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Bibliographic Details
Main Authors: Yoshihito Ando, Mikio Sawada, Tadataka Kawakami, Mitsuya Morita, Yoko Aoki
Format: Article
Language:English
Published: Karger Publishers 2021-02-01
Series:Case Reports in Neurology
Subjects:
noonan syndrome
nerve root hypertrophy
kras gene mutation
ras/mapk pathway
rasopathy
Online Access:https://www.karger.com/Article/FullText/512265

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