Severe ketoacidosis induced by short-term starvation in a patient with spinal muscular atrophy

We report a case of a 29-year-old woman with spinal muscular atrophy (SMA) type II who developed severe ketoacidosis after short-term starvation. She was hospitalized with lower respiratory tract infection. Although her symptoms improved after administration of intravenous antibiotic agents, her food intake gradually decreased. On the 7th day of hospitalization, she experienced abdominal pain followed by vomiting, after which she was unable to eat. Approximately 12 h later, she suffered from shock, accompanied with disturbance of consciousness, and she was admitted to the intensive care unit. She was diagnosed with ketoacidosis based on arterial blood gas analyses and urine test results. On receiving continuous infusion of glucose and insulin, her ketoacidosis was rapidly resolved and her symptoms completely recovered by the next day. To prevent the recurrence of ketoacidosis, we provided a diet plan based on indirect calorimetry results. However, ketoacidosis recurred twice, at 12 months and 16 months after discharge, both within 24 h of the onset of the fasting state. In addition to insufficient glycogen storage because of chronic malnutrition, poor gluconeogenesis or poor ketone body consumption due to skeletal muscle atrophy was believed to increase the risk of acute-onset, severe ketoacidosis after short-term starvation. Clinicians must note that patients with SMA are prone to ketoacidosis and that they must be promptly treated.