MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease

Abstract

We described the pattern of muscle involvement and disease progression in a family with CMT disease type 2 F. GRE dual-echo dual-flip angle MRI technique is a valuable technique to obtain a rapid quantification of MFF.

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa

“…Our MR imaging was enhanced by the use of a 2-point Dixon technique, which after post-processing allows for quantitative, as opposed to qualitative, assessment of fatty infiltration of musculature. Quantitative fat-fraction MRI of skeletal muscle already shows promise in other neuromuscular disorders, including Duchene muscular dystrophy and Charcot-Marie-Tooth [18][19][20]. However, true quantitative MR assessment of lingual fat in patients with neuromuscular disorders, including GSD II and GSD III, has not yet been reported to our knowledge, though quantitative fat-fraction imaging of the normal tongue has been performed [21].…”

Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments

“…Dual-echo dual-flip angle SPGR is a rapid technique available on all routine MRI systems. Most recently, the same author applied this technique in five patients with late-onset Charcot-Marie-Tooth disease type 2, and found that it is a valuable tool for rapid MFF calculation [17].…”

“…It has been well documented that the amount of intramuscular fat is an accurate marker of disease progression [1], and it also sensitively correlates with both patient age and clinical stage [10][11][12][13][14][15][16][17][18][19].…”

“…The technique used by these authors is simple and available on every routine MRI system, and with a very short acquisition time. Most recently, the same author used this technique in five patients with late-onset Charcot-Marie-Tooth disease type 2 and found that it is a valuable tool for obtaining rapid quantification of MFF [17].…”

Sciatic nerve tumor and tumor-like lesions—uncommon pathologies

“…6) [12,39]. Axial T1-weighted images through the lower thighs may show bilateral fatty infiltration of the posterior compartments, with the anterior compartment showing delayed involvement [40]. On T2-weighted images, the affected nerve appears hyperintense and diffusely enlarged with uniform prominence of the fascicles.…”