Article Figures & Data
Figures
- Figure 1 Posterior fossa and spine malformations in patients with EPAS1 gain-of-function syndrome
Panels (A–C): Representative images of cerebellar tonsillar displacement and posterior fossa morphology in the patients with incidental Chiari malformation; the same patient is shown. Panel (A): MRI of the brain, sagittal postcontrast T1-weighted sequence shows the left cerebellar tonsil at the lowest tonsillar position, 8 mm below the foramen magnum. The clivus is narrow and underdeveloped; the supraoccipital bone and the uncalcified synchondroses of the odontoid are also shown (arrowheads). Panel (B): Coronal T1-weighted sequence demonstrating the location of the measurement in (A). Panel (C): Axial postcontrast T1-weighted sequence showing crowding of the brainstem by the cerebellar tonsils within the foramen magnum (arrows). Panel (D): MRI of the brain, sagittal postcontrast T1-weighted sequence shows a Dandy-Walker variant malformation with communication between the mega cisterna magna (arrow) and the fourth ventricle. There is improper cerebellar rotation (dashed arrow). The same morphology of the clivus, odontoid, and supraoccipital bone was seen in the patients with Chiari malformation (arrowheads). Panel (E): Axial postcontrast T1-weighted sequence of the same patient as in panel (D) shows the connection between the mega cisterna magna (arrow) and the fourth ventricular space (dashed arrow). Panel (F): Representative lumbosacral spine CT volumetric reconstruction of patient 3 shows dysraphism of the posterior elements of the entire sacrum. Panel (G): Volumetric reconstruction of CT of the lumbosacral spine of patient 7 shows abnormal sacral segmentation.
- Figure 2 Dysraphisms in EPAS1 gain-of-function transgenic mouse model
Representative images of posterior fossa and spinal cord neural tube defects in the transgenic mouse model of EPAS1 gain-of-function syndrome are shown. Panel (A): Ex vivo 14T MRI axial plane at the craniocervical junction shows cerebellar parenchyma (arrow) extending through the foramen magnum with an attachment to the upper cervical spinal cord (arrowhead). Panel (B): Ex vivo 14T MRI sagittal plane performed on a Microfil-perfused mouse demonstrates a cervical myelomeningocele (arrowheads); large leptomeningeal veins surrounding the spinal cord are shown (arrows). Panel (C): Ex vivo micro-CT of the intact mouse shows abnormal vertebral segmentation of left L5 transverse process and S1 ala (arrows). Panel (D): Ex vivo micro-CT of the intact mouse demonstrates faulty ossification of the posterior elements of the cervical and thoracic spine (double-lined arrows), specifically the spinous process (arrow); the transverse processes are similarly hypodense (asterisk). There is a dysraphism of T1 (dashed arrow). Panel (E): Axial gross dissection of the cervical myelomeningocele shows a large leptomeningeal vein (arrowhead) below the parenchymal tissue marked by the dashed arrow in panel (B). Parenchymal spinal cord tissue is seen outside the normal border (arrow). Lack of ossification of the posterior elements of the spinal column (asterisk) is appreciated lateral to the primary ossification center (dashed arrow).
- Figure 3 Anomalous venous patterns affecting clival-occipital development in patients and mouse model
Panel (A): Volumetric reconstruction of the ex vivo CT of the Microfil-perfused mouse model demonstrates an abnormal development of the right petrous temporal bone (asterisk), with a bony ridge from an aberrant segment of bone overlying the sigmoid sinus; this is not seen on the left side. Panel (B): The same reconstruction seen from 180° view compared with panel A. The jugular vein from the sigmoid sinus on the right (arrow) is seen on the other side of the abnormal bony ridge (asterisk). The tonsillar depressions in the occipital bone are appreciated (dashed arrows); the right, which is open to the foramen magnum, is smaller than the left because of the anomalous course of the venous system through the abnormal petrous temporal bone. Panels (C–E): Representative images of anomalous pattern of the posterior condylar emissary vein and occipital bone in the EPAS1 gain-of-function patients; the same patient (5) is shown. Panel (C): MRI of the brain, coronal postcontrast T1-weighted MR shows the posterior condylar emissary vein (PCEV) (arrow) arising from the sigmoid sinus and exiting through the occipital bone on the left; this is not seen on the right (arrowhead). Panel (D): Sagittal T1-weighted shows the course of the PCEV identified in panel (A) (arrow). Panel (E): Axial postcontrast T1-weighted sequence shows the PCEV coursing through the occipital bone with poor definition of a true foramen (arrow); the right jugular bulb is also seen to be developmentally larger than the left (arrowheads).
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