Chiari I malformation and Noonan's syndrome: Shared manifestations of RASopathy. 2021

Megan Still, and Patricia Miller, and William Dodd, and Rachel Moor, and Brandon Lucke-Wold, and Ken Porche, and Kelly Foote
Department of Neurosurgery, University of Florida, Gainesville, USA.

Neurologic sequalae of Noonan syndrome have been postulated in the literature. A topic of significance is the role of RASopathy in the shared pathophysiology of Noonan Syndrome and Chiari I malformation. In this unique case report, we present a patient with concomitant Noonan Syndrome and Chiari I with 4th ventricular outflow obstruction. The case highlights the importance of close clinical suspicion in this patient population. We utilize the case to delve into intricacies of the known pathophysiology and encourage ongoing investigation.

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