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Chiari I Malformation Associated with Turner Syndrome. | LitMetric

Chiari I Malformation Associated with Turner Syndrome.

J Neurosci Rural Pract

Department of Neurology, Brain and Spine Centre, Indo American Hospital, Vaikom, Kerala, India.

Published: January 2017

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402500PMC
http://dx.doi.org/10.4103/0976-3147.203840DOI Listing

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