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.
Subject(s)
Ketosis/diagnosis , Ketosis/etiology , Muscular Atrophy, Spinal/complications , Adult , Diagnosis, Differential , Glucose/administration & dosage , Glucose/therapeutic use , Humans , Infusions, Intravenous , Ketosis/blood , Ketosis/therapy , Male , Muscular Atrophy, Spinal/classification , Muscular Atrophy, Spinal/pathology , Severity of Illness Index , Sodium Bicarbonate/administration & dosage , Sodium Bicarbonate/therapeutic use , Sweetening Agents/administration & dosage , Sweetening Agents/therapeutic use , Treatment OutcomeABSTRACT
In patients with complex psychosocial history presenting with resistant hypertension, observed therapy should be implemented early on to avoid unnecessary investigations and delayed diagnosis.