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Neuroimaging findings in children with Keutel syndrome |
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| Authors: | Thangamadhan Bosemani Ryan J Felling Emily Wyse Monica S Pearl Aylin Tekes Edward Ahn Andrea Poretti Thierry A G M Huisman |
| Institution: | 1. Section of Pediatric Neuroradiology, Division of Pediatric Radiology Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Charlotte R. Bloomberg Children’s Center, Sheikh Zayed Tower, Room 4174 1800 Orleans St., Baltimore, MD, 21287-0842, USA 2. Division of Pediatric Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA 3. Division of Interventional Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA 4. Division of Pediatric Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, MD, USA |
| Abstract: | BackgroundKeutel 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.ObjectiveTo systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge.Materials and methodsFour children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings.ResultsThree of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification.ConclusionWe 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. |
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