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Paediatrics
De novo LMNA mutation in a migrant child presenting with respiratory failure
  1. John Chukwuma Martin-Agba,
  2. Elohor Omoefe Okoro,
  3. Owora Amadi and
  4. Kene Maduemem
  1. Emergency Department, Royal Manchester Children's Hospital, Manchester, UK
  1. Correspondence to Dr Kene Maduemem; ebukakene{at}rocketmail.com

Abstract

We report a case of an unconscious Black African male child who recently migrated from a West African country. He has a background of undiagnosed muscular dystrophy, regression of gross motor skills from early childhood and GMCFS (Gross Motor Function Classification System) Level V. This child had developed respiratory failure following an acute febrile illness and altered sensorium. This resulted in a cascade of events to manage the index presentation while unravelling the previously undiagnosed pathology. Genetic testing revealed pathogenic LMNA missense variant (NM_170707.2:c.1072G>A p.Glu358Lys). This child is under multidisciplinary follow-up care and cardiac surveillance. Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early-onset joint contractures, progressive muscle weakness with a humeroperoneal distribution and cardiac involvement. Early EDMD diagnosis could limit morbidity from cardiac complications and muscular contractures.

  • Muscle disease
  • Neuro genetics
  • Neuromuscular disease

https://doi.org/10.1136/bcr-2025-265340

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: JCM-A, EOO, OA and KM. The following authors gave final approval of the manuscript: JCM-A, EOO, OA, KM. KM: guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Acknowledgements The authors thank the mother for providing consent for publication. The authors appreciate the contributions of the paediatric radiologist Ian Russell in providing the images and reports, and paediatric registrar Sameen Khalid for the ECG interpretation.