Resumo

DE LA CALLE-RIAGUAS, B; CASAMAYOR-LAZAR, B; GOMEZ-ESPINOSA, P  e  BERROCAL-JAVATO, MA. COVID-19 in a patient with spinal muscular atrophy: a case report. Rev. OFIL·ILAPHAR [online]. 2022, vol.32, n.4, pp.397-399.  Epub 23-Out-2023. ISSN 1699-714X.  https://dx.doi.org/10.4321/s1699-714x20220004000014.

Spinal muscular atrophy (SMA) is a rare autosomal recessive disease with an overall incidence of 4 to 10 cases per 100,000 newborns. It is caused by progressive degeneration of the anterior horn cells in the spinal cord, which cause weakness and muscle atrophy, potentially leading to dependence and early death1,2. There is currently no curative treatment for SMA and the therapeutic interventions available are based on motor rehabilitation measures and symptomatic treatment3,4. Nusinersen has been the first drug approved for this disease, allowing the acquisition and development of motor functions increasing the overall survival of these patients4. We present the case of a patient who, five days after birth, has shown SMA clinical symptoms, doses, until the control test performed by protocol prior to administration of the eighth dose, positive PCR for SARS-CoV-2 was detected and isolation was decided. However, two days later, he went to the emergency room for acute respiratory failure, requiring hospital admission where it was decided to continue administering nusinersen, which has proven to be beneficial in the underlying pathology.

Palavras-chave : Spinal muscular atrophy; nusinersen; COVID-19; SARS-CoV-2; methylprednisolone.

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