case_images: PMC9402982_01
case_images: Clinical features of the patient with MSTO1 variant. The second toes of both feet were upward deformity (A). Chest radiograph showed increased brightness of the right lung, hyperventilation was considered (B). (C-F) Brain MRI revealed reduced cerebellar volume, deepened sulci and fissures, and narrowed gyri, the fourth ventricle and occipital cisterna were enlarged (G). MRA was normal (H).
case_images: fgene-13-947886-g001.jpg
case_images: PMC9402982_01_fgene-13-947886-g001.jpg
case_images: F1
case_images: The muscle strength and muscle tone of the limbs were normal, and the second toes of both feet were upward deformity (Figure 1A). Chest radiograph showed increased brightness of the right lung, hyperventilation was considered (Figure 1B). Brain MRI revealed reduced cerebellar volume, deepened sulci and fissures, narrowed gyri (Figures 1C-F), and enlarged fourth ventricle and occipital cisterna (Figure 1G). There were no abnormalities in the head magnetic resonance angiography (MRA) (Figure 1H) and magnetic resonance venography (MRV) and bilateral hippocampal magnetic resonance spectroscopy (MRS).
case_images: Muscle MRI findings of the patient with MSTO1 variant. Muscle MRI images of the short T1 signal shadow, uneven T2WI signal in muscle groups of both lower limbs (A-E), and uneven enhancement was observed after enhancement (F-J). The patient shows marked involvement of the glutei within the pelvis (A,F), within the thigh (B-D); (G-I), the pattern of involvement was diffuse, with relative sparing of gracilis (G) compared to sartorius (S), and adductor longus (AL) compared to adductor magnus (AM). VL: vastus lateralis; S: soleus; Gm: gastrocnemius medialis, Gl: gastrocnemius lateralis.
case_images: fgene-13-947886-g002.jpg
case_images: PMC9402982_01_fgene-13-947886-g002.jpg
case_images: F2
case_images: Moreover, the muscle MRI of both lower extremities showed changes and chronic atrophy of various muscle groups in the lower extremities, and adductor longus (AL) was most seriously affected and muscle atrophy was the most significant (Figures 2A-J).