RESUMEN
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.
Asunto(s)
Cetosis/diagnóstico , Cetosis/etiología , Atrofia Muscular Espinal/complicaciones , Adulto , Diagnóstico Diferencial , Glucosa/administración & dosificación , Glucosa/uso terapéutico , Humanos , Infusiones Intravenosas , Cetosis/sangre , Cetosis/terapia , Masculino , Atrofia Muscular Espinal/clasificación , Atrofia Muscular Espinal/patología , Índice de Severidad de la Enfermedad , Bicarbonato de Sodio/administración & dosificación , Bicarbonato de Sodio/uso terapéutico , Edulcorantes/administración & dosificación , Edulcorantes/uso terapéutico , Resultado del TratamientoRESUMEN
In patients with complex psychosocial history presenting with resistant hypertension, observed therapy should be implemented early on to avoid unnecessary investigations and delayed diagnosis.