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Severe ketoacidosis in a patient with spinal muscular atrophy

  • Bassel Lakkis
  • Alissar El Chediak
  • Jana G. Hashash
  • Sahar H. Koubar
Case Report

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.

Keywords

Ketoacidosis Neuromuscular disease Glucose metabolism Spinal muscular atrophy 

Notes

Compliance with ethical standards

Conflict of interest

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.

Informed consent

An informed consent was obtained from the patient reported.

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Copyright information

© Japanese Society of Nephrology 2018

Authors and Affiliations

  • Bassel Lakkis
    • 1
  • Alissar El Chediak
    • 1
  • Jana G. Hashash
    • 2
  • Sahar H. Koubar
    • 3
  1. 1.Department of Internal MedicineAmerican University of BeirutBeirutLebanon
  2. 2.Division of Gastroenterology, Department of Internal MedicineAmerican University of BeirutBeirutLebanon
  3. 3.Division of Nephrology and Hypertension, Department of Internal MedicineAmerican University of BeirutBeirutLebanon

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