Presentation
The examination was performed as a control for a tracheostomy in a known patient with spinal muscular atrophy diagnosed since 6 months old. Presented with difficult movement, swallowing problems, and breathing difficulties.
Patient Data
Pulmonary hypoexpansion and morpho-structural changes of the thoracic cavity, noting narrowing especially superiorly.
The tracheostomy tube is seen in situ.
Rather prominent ventricular system with widened basal cisterns, Sylvian fissures, cortical sulci, and other extra-axial CSF spaces.
Slightly reduced volume of the brain stem and cervical spinal cord with widened retro-cerebellar CSF space.
Bilateral chronic oto-mastoid effusions are incidentally seen.
Case Discussion
Spinal muscular atrophy (SMA) is a group of autosomal recessive disorders. in which nerve cells that originate in the spinal cord and brain stem degenerate, causing progressive muscle weakness and wasting, including severe thoracic muscle weakness and difficulty breathing.
Mild atrophic brain changes are observed, however, brain involvement is under-investigated in spinal muscular atrophy (SMA) type 1.