È giustificato un diverso approccio terapeutico nel trattamento dell’atrofia muscolare spinale di tipo 1? Insegnamenti da un caso clinico

Children affected by spinal muscular atrophy (SMA) can develop serious respiratory complications including atelectasis, pneumonia, small airway obstruction and acidosis, principally because of impaired cough secondary to weakness of chest wall. Ineffective airway clearance can be exacerbated by acute respiratory illnesses, when secretion production increases and respiratory muscle function acutely deteriorates. In the past the only chance to prolong survival for children with SMA intubated for acute respiratory failure was often tracheotomy and long-term mechanical ventilation. Most physicians discourage endotracheal intubation and tracheotomy, assuming that the prognosis for survival would not be greatly improved and the quality of life is too poor to justify such an invasive intervention. Recent reports highlight that tracheotomy for most SMA 1 children could be delayed by the praecox use of non-invasive ventilation (NIV) and mechanical in-exsufflator (MI-E), thus increasing their quality of life. We report a case of a SMA 1 infant presenting migrating atelectasis who was successfully treated by using Boussignac CPAP valve, MI-E and NIV.