Erschienen in:
01.01.2014 | Original Article
Neuroimaging findings in children with Keutel syndrome
verfasst von:
Thangamadhan Bosemani, Ryan J. Felling, Emily Wyse, Monica S. Pearl, Aylin Tekes, Edward Ahn, Andrea Poretti, Thierry A. G. M. Huisman
Erschienen in:
Pediatric Radiology
|
Ausgabe 1/2014
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Abstract
Background
Keutel syndrome is a rare autosomal-recessive condition characterized by abnormal cartilage calcification. Neuroimaging findings associated with this condition have been randomly described in the literature.
Objective
To systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge.
Materials and methods
Four children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings.
Results
Three of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification.
Conclusion
We propose that Keutel syndrome be considered and included among the secondary causes of moyamoya syndrome. In children with petrified auricle and neurological symptoms, Keutel syndrome should be considered and brain MRI with MRA is required.