Figure 2.

Imaging and pathological staining results. (A–D) and (E–H) are the imaging result of the proband and the female patient, respectively. (I–L) are the results of muscle tissue staining of the proband. (A) Craniocerebral CT shows left cerebellar infarction; (B) CTA of the brain shows a basilar artery with a fusiform aneurysm; (C) Cerebral MRI SWI shows multiple bleeding focus in both hemispheres of the cerebellum; (D) MRI T₂FLAIR images shows multiple ischemic lesions in both lateral ventricles and deep white matter; (E) CTA of the brain shows a localized stenosis of the right posterior cerebral artery; (F, G): MRI SWI shows recurrent cerebellopontine hematoma and multiple micro-hemorrhagic foci of cerebellum and brainstem; (H) Craniocerebral MRI T₂FLAIR images shows multiple ischemic lesions in both lateral ventricles and deep white matter; (I, J): H&E staining muscle fibers of proband were slightly different in size, polygonal in shape, and slightly increased in kernel fibers. (K) LAMP2 staining was enhanced in the vacuolar muscle fiber, and the distribution was significant at the margin of vacuolar muscle fiber. (L) NADH staining showed the interphase distribution of two types of fibers, the mesh-like structure in vacuolar fibers was disordered, and the activity of NADH in vacuolar region was absent.