Open AccessChiari I Malformation Associated with Turner Syndrome
Author(s) -
Kamble Jayaprakash Harsha,
Jeevan S Nair
Publication year - 2017
Publication title -
journal of neurosciences in rural practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.331
H-Index - 22
eISSN - 0976-3147
pISSN - 0976-3155
DOI - 10.4103/0976-3147.203840
Subject(s) - medicine , chiari malformation , turner syndrome , presentation (obstetrics) , magnetic resonance imaging , noonan syndrome , chiari i malformation , congenital disorder , pediatrics , radiology , syringomyelia
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.