Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations
Figure 3
Abnormal fat distribution in patients with PTRF-CAVIN mutations.
T1-weighted MR-images of patient FI:201 (B,D) and of patient FII:201 (F). On the left, the corresponding images of normal controls (A,C,E) are shown for comparison. T1-weighted images depict fat with high signal intensity thus giving an overview of the fat distribution. Subcutaneous fat is nearly completely lost over the peripheries, thoracic and abdominal walls and on both temporal regions. There is relative preservation of fat within the orbits. Paraspinal and perirenal fat is also reduced in bulk but relatively preserved. Fat in the bone marrow of the ribs and the humerus seems to be normal.