Severe ketoacidosis in a patient with spinal muscular atrophy.
CEN Case Rep
; 7(2): 292-295, 2018 11.
Article
en En
| MEDLINE
| ID: mdl-29978296
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Atrofia Muscular Espinal
/
Cetosis
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
CEN Case Rep
Año:
2018
Tipo del documento:
Article
País de afiliación:
Líbano