DOI: 10.12890/2025_005700

When the diaphragm fails: visual hallucinations due to isolated respiratory muscle weakness as a first manifestation of late-onset Pompe disease

Authors

  • Caroline Van Lierde Department of Internal Medicine, UZ Leuven, Leuven, Belgium 0009-0007-1287-7925
  • Mathieu Brancaleone Department of Internal Medicine, UZ Leuven, Leuven, Belgium 0009-0005-2890-6415
  • Tom Cornelis Department of Nephrology, Jessa Ziekenhuis Hasselt, Hasselt, Belgium
  • Karolien Weytjens Department of Pulmonology, Jessa Ziekenhuis Hasselt, Hasselt, Belgium
  • Kristl Claeys Department of Neurology, UZ Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Leuven, Belgium 0000-0001-9937-443X
  • Greet Hermans Medical Intensive Care Units, Department of General Internal Medicine, UZ Leuven, Leuven, Belgium; Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Belgium 0000-0001-5340-1500

caroline_vanlierde@live.be

Keywords

Late-onset Pompe disease, diaphragmatic weakness, respiratory failure, visual hallucination

Abstract

Background: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase (GAA), leading to progressive skeletal and respiratory muscle weakness. In about 10% of cases, diaphragmatic weakness may be the sole presenting feature. Early diagnosis is crucial, as ventilatory support improves outcomes and enzyme replacement therapy can slow disease progression.
Case presentation: A 60-year-old male with a medical history of heart failure presented with dyspnoea, orthopnoea and fluctuating visual hallucinations. Initial metabolic alkalosis, presumed secondary to diuretics, masked chronic hypercapnic respiratory failure. Despite optimised heart failure treatment, symptoms persisted. Pulmonary function tests showed a restrictive pattern with preserved diffusion. Hypercapnic respiratory failure prompted admission to the intensive care unit and invasive ventilation. A significant drop in vital capacity between upright and semi-recumbent positions and absent phrenic nerve responses indicated diaphragmatic weakness. Low GAA activity and genetic testing confirmed the diagnosis of LOPD. Neurological and immunological work-up excluded alternative causes. Non-invasive ventilation improved symptoms, and enzyme replacement therapy with avalglucosidase alfa was initiated.
Conclusion: This case illustrates the diagnostic challenge of isolated respiratory failure due to LOPD when early signs are masked by comorbidities and metabolic disturbances. Nocturnal hypoventilation may cause atypical symptoms such as hallucinations. Systematic neuromuscular evaluation is essential to enable timely ventilatory support and disease-specific treatment.

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References

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Published

2025-10-06

Issue

Vol. 12 No. 11 (2025)

Categories

How to Cite

1.
Van Lierde C, Brancaleone M, Cornelis T, Weytjens K, Claeys K, Hermans G. When the diaphragm fails: visual hallucinations due to isolated respiratory muscle weakness as a first manifestation of late-onset Pompe disease. EJCRIM [Internet]. 2025 Oct. 6 [cited 2026 Nov. 3];12(11). Available from: https://ejcrim.com/index.php/ejcrim/article/view/5700