Neuroimaging findings in children with Keutel syndrome.

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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Bosemani T,Felling RJ,Wyse E,Pearl MS,Tekes A,Ahn E,Poretti A,Huisman TA

doi

10.1007/s00247-013-2768-0

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

73-8

issue

1

eissn

0301-0449

issn

1432-1998

journal_volume

44

pub_type

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