Chiari I Malformation Associated with Turner Syndrome

• 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: chiari i malformation; headache; magnetic resonance imaging; turner syndrome
• Online Access: http://www.thieme-connect.de/DOI/DOI?10.4103/0976-3147.203840

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.