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
Published in:Journal of neurosciences in rural practice 2017-04, Vol.8 (2), p.277-280
Main Authors: Harsha, Kamble Jayaprakash, Nair, Jeevan S
Format: Article
Language:English
Subjects:
Care and treatment
Case Report
Case studies
Defects
Diagnosis
Dissection
Genetic disorders
Headaches
Hypertension
Infections
Morphology
NMR
Nuclear magnetic resonance
Stroke
Turner syndrome
Veins & arteries
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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
DOI:10.4103/0976-3147.203840