Chiari I Malformation Associated with Turner Syndrome

Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough head...

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Bibliographic Details
Main Authors: Kamble Jayaprakash Harsha, Jeevan S. Nair
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2017-04-01
Series:Journal of Neurosciences in Rural Practice
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.4103/0976-3147.203840
Description
Summary:Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan’s syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.
ISSN:0976-3147
0976-3155