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A difficult case
Pompe disease misdiagnosed as polymyositis
  1. Antonio Edvan Camelo-Filho1,
  2. Manoel Ricardo Alves Martins2,
  3. Jorge Luiz de Brito de Souza3,
  4. Rebeca Bessa Maurício4,
  5. Paulo Ribeiro Nóbrega1
  1. 1Department of Neurology, Universidade Federal do Ceará Hospital Universitário Walter Cantídio, Fortaleza, Ceará, Brazil
  2. 2Department of Endocrinology, Universidade Federal do Ceará Hospital Universitário Walter Cantídio, Fortaleza, Ceará, Brazil
  3. 3Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil
  4. 4Center of Health Sciences, Universidade Estadual do Ceara, Fortaleza, CE, Brazil
  1. Correspondence to Dr Paulo Ribeiro Nóbrega, Department of Neurology, Universidade Federal do Ceará, Fortaleza, Ceará, Brazil; paulo_r_med{at}yahoo.com.br

Abstract

Late-onset Pompe disease manifests predominantly in the proximal lower limbs and may be mistaken for an inflammatory myopathy. A 46-year-old man with acromegaly had an 8-year history of progressive weakness. His myopathy was initially attributed to the acromegaly, but severe progression prompted a muscle biopsy, which suggested an inflammatory myopathy. However, his weakness progressed despite treatment for polymyositis. His muscle ultrasound scan pattern was more suggestive of Pompe disease than polymyositis, and Pompe disease was confirmed by genetic and enzymatic testing. Patients with apparent polymyositis, which persists despite treatment, require reconsideration of the diagnosis, with particular attention to treatable genetic causes.

  • POLYMYOSITIS
  • NEUROMUSCULAR
  • MUSCLE DISEASE
  • ULTRASOUND
  • NEUROENDOCRINOLOGY

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

http://dx.doi.org/10.1136/pn-2023-003935

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    Data availability statement

    Data sharing not applicable as no datasets generated and/or analysed for this study.

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    Footnotes

    • Contributors AEC-F: case report project (conception, organisation, execution), muscle ultrasound, writing and review of the manuscript. MRAM: case report project (conception,organisation, execution), writing of the first draft, final review and critique. JLdBdS: case report project (conception, organisation, execution), writing of the first draft, review of the manuscript. RBM: case report project (conception, organisation, execution), writing of the first draft, review of the manuscript. PRN: case report project (conception, organisation, execution), writing of the final draft and cover letter, final review and critique.

    • 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.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed by Jon Walters, Swansea, UK.