case_images: PMC10357141_01
case_images: Clinical images and MRI muscle of patient -1. A, B, C, D: Clinical images - Ocular motility restriction - Abduction and upgaze restriction with proptosis. E, F, G, H: Muscle MRI images - E- T1 W, F-T2 W images showing quadriceps (yellow arrow), semitendinosus (green arrow) fatty infiltration. G-T1 W, H-T2 W images showing predominant medial gastrocnemius (orange arrow) fatty infiltration with sparing of anterior leg muscles.
case_images: jnd-10-jnd230017-g001.jpg
case_images: PMC10357141_01_jnd-10-jnd230017-g001.jpg
case_images: jnd-10-jnd230017-g001
case_images: Examination showed proptosis of 18 mm with restricted eye abduction and elevation without ptosis. (Fig. 1A-D) Facial weakness was noted. Magnetic resonance imaging of muscles showed prominent fatty infiltration of gluteus maximus, quadriceps and semitendinosus (Fig. 1E-H).
case_images: PMC10357141_02
case_images: A, B, C, D: Clinical images of patient-2. A -Asymmetric ptosis. B, C- Restricted ocular motility. D,E -Facial weakness.
case_images: jnd-10-jnd230017-g002.jpg
case_images: PMC10357141_02_jnd-10-jnd230017-g002.jpg
case_images: jnd-10-jnd230017-g002
case_images: Examination showed asymmetric ptosis with severe restriction of eye movements in all directions (Fig. 2) and mild facial weakness.