case_images: PMC10899487_01
case_images: (A) Family pedigree; (B) bilateral ptosis; (C) sagittal T1 weighted MRI image demonstrating superior cerebellar vermis atrophy.
case_images: fneur-15-1204848-g001.jpg
case_images: PMC10899487_01_fneur-15-1204848-g001.jpg
case_images: fig1
case_images: The patient had two younger healthy siblings without any family history of neurologic symptomatology (Figure 1A). These decompensations were characterized by ophthalmoplegia (mostly vertical), ptosis, gait ataxia, lethargy, and developmental regression and incoordination (Figure 1B). Imaging studies showed a minor delay in myelination on the initial MRI study (not accessible at the time of presentation to the tertiary care clinic), while a subsequent imaging study performed at the age of 13 years showed moderate atrophy of the superior vermis and diffuse prominence of cerebellar folia (Figure 1C).
case_images: The timeline of the clinical course.
case_images: fneur-15-1204848-g002.jpg
case_images: PMC10899487_01_fneur-15-1204848-g002.jpg
case_images: fig2
case_images: Figure 2 presents the timeline of the clinical course.