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Severe ketoacidosis in a patient with spinal muscular atrophy

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Abstract

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterized by progressive muscle weakness and atrophy. We report a case of a 36-year-old man with SMA type 3 who presented to our emergency department with epigastric pain and vomiting. He was found to have severe ketoacidosis on laboratory evaluation. The patient’s symptoms and ketoacidosis resolved after dextrose infusion and a relatively small amount of sodium bicarbonate infusion. Given the severity of the ketosis that seemed inconsistent with moderate starvation alone, we postulate that there must have been other contributing factors besides moderate starvation that might explain the severity of acidosis in this particular patient. These factors include low muscle mass, disturbed fatty acid metabolism, hormonal imbalances and defective glucose metabolism. Ketoacidosis is an under-recognized entity in patients with neuromuscular diseases and requires a high index of suspicion for prompt diagnosis and management.

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Author notes

  1. Bassel Lakkis, Alissar El Chediak contributed equally to the manuscript.

Authors and Affiliations

  1. Department of Internal Medicine, American University of Beirut, Beirut, Lebanon

    Bassel Lakkis & Alissar El Chediak

  2. Division of Gastroenterology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon

    Jana G. Hashash

  3. Division of Nephrology and Hypertension, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon

    Sahar H. Koubar

Authors
  1. Bassel Lakkis
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  2. Alissar El Chediak
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  3. Jana G. Hashash
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  4. Sahar H. Koubar
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Corresponding author

Correspondence to Sahar H. Koubar.

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The authors report no conflict of interest.

Research involving human participants

This article does not contain any studies with human participants or animals performed by any of the authors.

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An informed consent was obtained from the patient reported.

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Lakkis, B., El Chediak, A., Hashash, J.G. et al. Severe ketoacidosis in a patient with spinal muscular atrophy. CEN Case Rep 7, 292–295 (2018). https://doi.org/10.1007/s13730-018-0345-y

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  • DOI: https://doi.org/10.1007/s13730-018-0345-y

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