Chiari I malformation and Noonan’s syndrome: Shared manifestations of RASopathy
Megan Still(University of Florida), Patricia Miller(University of Florida), William Dodd(University of Florida), Rachel Moor(University of Florida), Brandon Lucke‐Wold(University of Florida), Ken Porche(University of Florida), Kelly D. Foote(University of Florida)
Cited by 5Open Access
Abstract
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. Keywords: Noonan syndrome; Chiari I malformation; RASopathy.
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