Fig. 2

Comparison of fat distribution. The whole-body MRI confirms generalized fat loss in the patient who had a homozygous pathogenic variant in the LMNA gene. Adipose tissue is well preserved around mons pubis and external genital region similar to heterozygous LMNA R582H patient and typical FPLD2 patients while fat tissue loss is noted in a generalized pattern in the scalp, mammary gland, abdomen visceral/subcutaneous, and extremities. Fluid like signal is detected in the bone marrow. Supraclavicular subcutaneous fat was preserved, but the amount of fat was significantly decreased in contrast to heterozygous LMNA R582H and typical FLPD2. The liver was steatotic and diffusely enlarged. Fat loss is partial in heterozygous LMNA p.R582H carrier (Fig. 2b) affecting the limbs, abdomen, breasts and the lower part of the body which is similar to typical FPLD2, although more subcutaneous fat was observed in the upper part of the trunk, over the shoulders, and head and neck (Fig. 2b and d). Retroorbital fat is preserved in all patients. a: Fat distribution in the patient with homozygous LMNA pathogenic variant, R582H; b: Fat distribution in the patient with heterozygous LMNA pathogenic variant, p.R582H; c: Fat distribution in a healthy control (28 years old, female); d: Fat distribution in a 30-year-old female with typical FPLD2 caused by heterozygous LMNA pathogenic variant p.R482W (c.1444C > T); e: Fat distribution in a 30-year-old female with the classical CGL1 phenotype caused by homozygous AGPAT2 pathogenic variant p.C48X (c.144C > A). In each panel I. Whole-body T1-weighted imaging; II. Retroorbital, axial T1 weighted- imaging; III. Head and neck, axial T1 weighted-imaging; IV. Trunk, axial T1 weighted-imaging; V. Pelvic region, axial T1 weighted-imaging, VI. Upper leg, axial T1 weighted imaging; VII. Sole, axial T1-weighted imaging