*Correspondence: isabelacestari19@gmail.com.
Abstract
Case Presentation: A female patient, 4-months-old, diagnosed with Spinal Muscular Atrophy Type I by
genetic test using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique
and with respiratory failure manifestations in the first weeks of life. Due to this
acute condition, in the emergency service, the patient was admitted to the hospital,
initially using Continuous Positive Airway Pressure (CPAP) and later requiring orotracheal
intubation due to worsening of the respiratory condition. After Nusinersena (4 doses)
was administered, extubation measures were taken. Even with clinical complications,
such as pneumothorax and episodes of bradycardia, the patient was kept on non-invasive
ventilation, and ventilatory support measures were used, such as Cough Assist and
physiotherapy maneuvers, and she was discharged after 115 days of hospitalization,
without tracheostomy.
Discussion: Spinal Muscular Atrophy is a genetic disease involving cell death of motor neurons
located in the anterior horn of the spinal cord and brainstem motor nuclei, caused
by SMN1 gene mutations. Type 1 is the most severe form, presenting with areflexia,
inability to sit without support, severe hypotonia, and diffuse muscle weakness. Respiratory
failure is usually the cause of death in these patients between 12 and 36 months of
age, caused by profound neurogenic muscle atrophy leading to inability to cough, weakness
and fatigue of the respiratory muscles. It can develop from progressive ventilatory
decompensation or from an acute process such as pneumonia. Among the types of respiratory
management, tracheostomy can be performed when patients are unable to wean themselves
off ventilatory support. However, it makes speech development difficult or impossible,
leads to dependence due to loss of respiratory autonomy, and brings complications
such as repeated infections. In contrast, non-invasive ventilation associated with
adequate physiotherapy assistance offers good results, with fewer hospitalizations
allowing home admission, speech capacity and increased life expectancy.
Final: In this report, it was observed that the choice not to perform a tracheostomy was
beneficial, enabling the indication of Zolgensma according to criteria for supply
via the Unified Health System.
Comments: It is necessary to promote a better quality of ventilation and suction of patients
with SMA type 1, seeking to increase the patient's quality of life, against tracheostomy
as the best treatment option.
