Progressive respiratory muscle weakness with bulbar involvement is the main cause of morbidity and mortality in type I and severe
type II spinal muscular atrophy. Noninvasive
positive pressure ventilation techniques coupled with laparoscopic gastrointestinal procedures may allow for improved morbidity and mortality. The authors present a series of 7
spinal muscular atrophy patients (6 type I and 1 severe type II) who successfully underwent laparoscopic
gastrostomy tube insertion coupled with Nissen
fundoplication and early postoperative extubation using noninvasive
positive pressure ventilation techniques. The authors measured the length of survival and the frequencies of
pneumonia and hospitalization before and after surgery as outcomes of these new surgical and medical interventions. All 7 patients had respiratory symptoms (unmanageable oropharyngeal secretions,
cough,
pneumonia), difficulty feeding, and
weight loss. Six patients had documented reflux via diagnostic testing preoperatively. Five patients were on noninvasive
positive pressure ventilation and other supportive
respiratory therapies prior to surgery. All 7 patients survived the procedures. By August 2006, 5 patients with type I and 1 with severe
type II spinal muscular atrophy were alive and medically stable at home 1.5 months to 41 months post-op. One patient with type I expired approximately 5 months post-op due to obstructive
apnea. This case series demonstrates that laparoscopic
gastrostomy tube placement coupled with Nissen
fundoplication and noninvasive
positive pressure ventilation can be successfully used as a treatment option to allow for early postoperative extubation and to optimize quality of life in type I and severe
type II spinal muscular atrophy patients.