Neuroimaging findings in children with Keutel syndrome

Thangamadhan Bosemani, Ryan J. Felling, Emily Wyse, Monica S. Pearl, Aylin Tekes, Edward Ahn, Andrea Poretti, Thierry A.G.M. Huisman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)73-78
Number of pages6
JournalPediatric radiology
Volume44
Issue number1
DOIs
StatePublished - Jan 1 2014

Keywords

  • Children
  • Keutel syndrome
  • Moyamoya syndrome
  • Neuroimaging

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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