Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Matthias W. Wagner, Andrea Poretti, Jane E. Benson, Thierry A G M Huisman

Research output: Contribution to journalArticle

Abstract

Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

Original languageEnglish (US)
Pages (from-to)162-209
Number of pages48
JournalJournal of Neuroimaging
Volume27
Issue number2
DOIs
StatePublished - Mar 1 2017

Fingerprint

Inborn Genetic Diseases
Neuroimaging
Pediatrics
Central Nervous System
Nervous System Malformations
Bone and Bones
Epiphyses
Central Nervous System Diseases
Skeleton
Cartilage
Early Diagnosis
Joints

Keywords

  • brain
  • children
  • Magnetic resonance imaging
  • skeletal dysplasia

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

Wagner, M. W., Poretti, A., Benson, J. E., & Huisman, T. A. G. M. (2017). Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review. Journal of Neuroimaging, 27(2), 162-209. https://doi.org/10.1111/jon.12413

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders : A Review. / Wagner, Matthias W.; Poretti, Andrea; Benson, Jane E.; Huisman, Thierry A G M.

In: Journal of Neuroimaging, Vol. 27, No. 2, 01.03.2017, p. 162-209.

Research output: Contribution to journalArticle

Wagner, MW, Poretti, A, Benson, JE & Huisman, TAGM 2017, 'Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review', Journal of Neuroimaging, vol. 27, no. 2, pp. 162-209. https://doi.org/10.1111/jon.12413
Wagner, Matthias W. ; Poretti, Andrea ; Benson, Jane E. ; Huisman, Thierry A G M. / Neuroimaging Findings in Pediatric Genetic Skeletal Disorders : A Review. In: Journal of Neuroimaging. 2017 ; Vol. 27, No. 2. pp. 162-209.
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