Résumé
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromosome 5. Depending on the age of the onset and the degree of severity, SMA has three subtypes. We discuss the autopsy findings in a case of Type 1 SMA also known by the name Werdnig-Hoffmann disease, to highlight the primary changes in the spinal cord, and skeletal muscle with association changes in the liver and terminal respiratory complications.
Sujets)
Humains , Mâle , Nourrisson , Amyotrophies spinales infantiles/anatomopathologie , Autopsie , Issue fatale , Gliose , Maladies génétiques congénitales , FoieRésumé
Spinal muscular atrophy (SMA) in children leads to progressive muscle weakness, dysphagia, aspiration, and death. The most common and severe form of SMA is designated as type I, also known as Werdnig-Hoffman Disease or Floppy Baby syndrome. We anesthetized an 8 month-old female infant with SMA type I undergoing feeding gastrostomy. We planned to use inhalational anesthesia without muscle relaxants. Anesthesia and surgery were uneventful. We herein report a case of successful peri-operative anesthetic management for SMA type I infant with aspiration pneumonia.