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Neuropediatrics 2021; 52(06): 462-468
DOI: 10.1055/s-0041-1726120
Original Article

Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

Christina E. Hoei-Hansen
1   Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark
2   Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
,
Marie L. B. Tygesen
1   Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark
,
Morten Dunø
2   Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark
,
John Vissing
3   Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Denmark
4   Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
,
Martin Ballegaard
4   Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
5   Department of Clinical Neurophysiology, Copenhagen University Hospital, Rigshospitalet, Denmark
,
Alfred P. Born
1   Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark
› Institutsangaben Funding This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
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Abstract

Aim The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality.

Materials and Methods Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years).

Results Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes.

Conclusion Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.

Keywords

children - diagnostic yield - muscle biopsy - neuromuscular disorders - single fiber electromyography

Authors' Contributions

A.P.B. and MB designed the study. M.L.B.T. and C.E.H.-H. collected the data. All authors analyzed the data and wrote the manuscript.


Supplementary Material



Publikationsverlauf

Eingereicht: 19. April 2020

Angenommen: 27. Januar 2021

Artikel online veröffentlicht:
11. März 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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