RESUMO
INTRODUCTION: Spinal muscular atrophy is a congenital condition associated with mutations in the SMN1 gene. Patients have normal intellectual development, but the natural history is progressive respiratory failure resulting in premature death. CASE: Diagnosed with spinal muscular atrophy type 2 in early primary school, the wheelchair-bound girl developed severe pneumonia on one occasion, when she became critically ill and was admitted to the paediatric intensive care unit with multiorgan dysfunction, requiring mechanical ventilation and high inotropic support. Parents and the patient expressed strong desire for full respiratory and intensive care support to be given. Survived the episode, she is wheelchair ambulatory and continues to pursue a creative artistic career. DISCUSSION: Children with SMA and their families need to be supported by a comprehensive multi-disciplinary team to manage this illness. Pediatricians and healthcare givers must provide up-to-date health advice on COVID-19 prophylaxis and management to special groups of patients with respiratory and neurological risks.
