Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children
Thieme. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:52 |
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| Enthalten in: |
Neuropediatrics - 52(2021), 6 vom: 11. Dez., Seite 462-468 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Hoei-Hansen, Christina E [VerfasserIn] |
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| Links: |
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| Themen: |
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| Anmerkungen: |
Date Completed 06.04.2022 Date Revised 06.04.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1055/s-0041-1726120 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM322633044 |
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| 100 | 1 | |a Hoei-Hansen, Christina E |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children |
| 264 | 1 | |c 2021 | |
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| 500 | |a Date Completed 06.04.2022 | ||
| 500 | |a Date Revised 06.04.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Thieme. All rights reserved. | ||
| 520 | |a 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 | ||
| 520 | |a MATERIALS AND METHODS: Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years) | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Tygesen, Marie L B |e verfasserin |4 aut | |
| 700 | 1 | |a Dunø, Morten |e verfasserin |4 aut | |
| 700 | 1 | |a Vissing, John |e verfasserin |4 aut | |
| 700 | 1 | |a Ballegaard, Martin |e verfasserin |4 aut | |
| 700 | 1 | |a Born, Alfred P |e verfasserin |4 aut | |
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| 773 | 1 | 8 | |g volume:52 |g year:2021 |g number:6 |g day:11 |g month:12 |g pages:462-468 |
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