Neuroimaging findings in children with Keutel syndrome

作者：Bosemani Thangamadhan; Felling Ryan J; Wyse Emily; Pearl Monica S; Tekes Aylin; Ahn Edward; Poretti Andrea; Huisman Thierry A G M^*

来源：Pediatric Radiology, 2014, 44(1): 73-78.

DOI：10.1007/s00247-013-2768-0

• Keutel syndrome
• Neuroimaging
• Moyamoya syndrome
• Children

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.
To systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge.
Four children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings.
Three of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification.
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.

• 出版日期2014-1