Title |
Severe ketoacidosis in a patient with spinal muscular atrophy
|
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Published in |
CEN Case Reports, July 2018
|
DOI | 10.1007/s13730-018-0345-y |
Pubmed ID | |
Authors |
Bassel Lakkis, Alissar El Chediak, Jana G. Hashash, Sahar H. Koubar |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Greece | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 3 | 13% |
Student > Master | 3 | 13% |
Student > Bachelor | 2 | 9% |
Lecturer | 2 | 9% |
Researcher | 2 | 9% |
Other | 1 | 4% |
Unknown | 10 | 43% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 5 | 22% |
Biochemistry, Genetics and Molecular Biology | 3 | 13% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 9% |
Nursing and Health Professions | 1 | 4% |
Neuroscience | 1 | 4% |
Other | 0 | 0% |
Unknown | 11 | 48% |