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Case 57 - Congenital Myopathies: X-Linked Myotubular Myopathy

from Myopathies

Published online by Cambridge University Press:  aN Invalid Date NaN

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A boy was born at 33 weeks’ gestational age via caesarean delivery because of a transverse position and difficulties in obtaining an adequate cardiotocography. Pregnancy had been complicated by fetal growth restriction with an abdominal circumference at p10, and polyhydramnios. His mother had noticed a reduction in fetal movements the day before delivery. Immediately after birth, he was hypotonic, pale, bradycardic, and without spontaneous breathing. Resuscitation was started with bag and mask ventilation and thoracic compressions. Heart rate and oxygen levels quickly normalized. However, breathing remained insufficient. Arterial CO2 levels rose to 14.0 kPa (ref 4.7–6.4) and he was intubated. He was the first child of unrelated parents. His mother had been diagnosed with obesity and gestational diabetes. The maternal grandmother had a sister whose daughter had a son who had died two days after birth more than 20 years earlier.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 238 - 239
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Amburgey, K, Tsuchiya, E, de Chastonay, S, et al. A natural history study of X-linked myotubular myopathy. Neurology 2017;89(13):13551364. doi: 10.1212/WNL.0000000000004415. Epub 2017 Aug 25. PMID: 28842446; PMCID: PMC5649758.CrossRefGoogle ScholarPubMed
Annoussamy, M, Lilien, C, Gidaro, T, et al. X-linked myotubular myopathy: a prospective international natural history study. Neurology 2019;92(16):e1852e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22. PMID: 30902907; PMCID: PMC6550499.CrossRefGoogle ScholarPubMed
Biancalana, V, Scheidecker, S, Miguet, M, et al. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. Acta Neuropathol 2017;134(6):889904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6. PMID: 28685322.CrossRefGoogle ScholarPubMed
D’Amico, A, Longo, A, Fattori, F, et al. Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies. Orphanet J Rare Dis 2021;16(1):425. doi: 10.1186/s13023-021-02055-1. Erratum in: Orphanet J Rare Dis 2022;17(1):18. PMID: 34641930; PMCID: PMC851335.CrossRefGoogle ScholarPubMed
Graham, RJ, Muntoni, F, Hughes, I, et al. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child 2020;105(4):332338. doi: 10.1136/archdischild-2019-317910. Epub 2019 Sep 4. PMID: 31484632; PMCID: PMC7054136.CrossRefGoogle ScholarPubMed
Shieh, PB, Kuntz, NL, Dowling, JJ, et al. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurology 2023; 22 (12):11251139.CrossRefGoogle Scholar

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