Matthias W. Wagner MD, Presenter: Nothing to Disclose

Andrea Poretti MD, Abstract Co-Author: Nothing to Disclose

Thangamadhan Bosemani MD, FRCR, Abstract Co-Author: Nothing to Disclose

Jane Ellen Benson MD, Abstract Co-Author: Nothing to Disclose

Thierry Huisman MD, Abstract Co-Author: Nothing to Disclose

Genetic skeletal disorders (GSD) are a group of disorders characterized by abnormality in growth and remodeling of cartilage and bone. Many GSD are systemic disorders with involvement of other organs including the central nervous system (CNS). CNS abnormalities have a significant impact on long-term prognosis of children with GSD and should not be missed. Early diagnosis of CNS involvement is important in the management of GSD. This pattern-recognition approach aims to be helpful in the diagnostic work-up of children with GSD and their management.

The 2010 Revision of the Nosology and Classification of Genetic Skeletal Disorders includes 456 conditions. We included all conditions (n=177) with CNS involvement. The diseases are classified based on the skeletal involvement (skull and/or trunk and/or limbs and/or acra). Skeletal involvement was defined in accordance with OMIM (Online Mendelian Inheritance of Man). The CNS involvement has been described based on an extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. Early diagnosis of CNS involvement is important in the management of GSD. Here we provide a pattern-recognition approach for neuroimaging findings in GSD.

http://abstract.rsna.org/uploads/2014/14011072/14011072_l4hc.pdf

Wagner, M, Poretti, A, Bosemani, T, Benson, J, Huisman, T, Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Pattern-recognition Approach.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14011072.html