Muscle magnetic resonance imaging of the lower limbs: Valuable diagnostic tool in the investigation of childhood neuromuscular disorders

Veronika Kana, Christian J. Kellenberger, Elisabeth Jane Rushing, Andrea Klein

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Abstract Children presenting with neuromuscular symptoms are subject to exhaustive investigations. As it is noninvasive, muscle magnetic resonance imaging (MRI) is an important diagnostic tool in children, yet its impact has so far been mainly studied in small groups of genetically defined diseases, where specific MRI patterns are known. To assess the contribution of muscle MRI of the lower limbs in a diverse cohort of patients, we reviewed the diagnostic findings in 39 patients with a suspected neuromuscular disorder that underwent muscle MRI (28/39), biopsy (26/39), or both (18/39). MRI was performed without sedation in 26 of 28 patients at a mean age of 10 years (range, 1-27 years). In 10 of 28 cases (35%), MRI significantly contributed to the final diagnosis, and in 7 of 28 cases (25%), muscle MRI directly instructed genetic testing. These cases included Bethlem myopathy, laminopathy, calpainopathy, and RYR1-related myopathies. Muscle MRI serves as a valuable additional tool to guide diagnosis in suspected neuromuscular disorders in children, especially in cases with nonspecific biopsy findings.

Original languageEnglish
Pages (from-to)278-288
Number of pages11
JournalNeuropediatrics
Volume45
Issue number5
DOIs
StatePublished - 1 Oct 2014
Externally publishedYes

Keywords

  • Congenital myopathies
  • Diagnosis
  • Muscle MRI
  • Myasthenic syndromes
  • Neuromuscular disorders

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