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This case aims to discuss a genetically confirmed case of MFN2-related multiple symmetric lipomatosis and its complications.

January 14, 2026JCEM Case ReportsOpen Access

P-046 a Rare Case of Mfn2-Related Multiple Symmetric Lipomatosis With Type 2 Diabetes

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This case aims to discuss a genetically confirmed case of MFN2-related multiple symmetric lipomatosis and its complications.
Genetic testing to identify pathogenic variants in MFN2 and GNRHR genes
Clinical examination and imaging to assess lipomatosis and related systemic conditions
Biochemical analysis for insulin resistance and metabolic status
Genetically confirmed homozygous variant in MFN2 gene associated with MSL and neuropathy
Patient showed insulin resistance and hypertriglyceridemia; developed type 2 diabetes
MRI revealed significant cervical lipomatous masses and associated neurological deficits

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Case report uncovers MFN2-related multiple symmetric lipomatosis in a man with type 2 diabetes, suggesting genetic implications.

Yavuz et al. (2026) studied this question.

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