Macrodystrophia Lipomatosa Involving Both Median and Tibial Nerves: A Two-Case Series

TL;DR

This paper presents two rare cases of a congenital disorder affecting both the median and tibial nerves, highlighting the importance of MRI for diagnosis.

Contribution

The paper adds to the limited literature by documenting MDL in both upper and lower extremity nerves in a two-case series.

Findings

MRI is essential for visualizing pathological fat infiltration in MDL-affected nerves.

MDL involving both the median and tibial nerves is extremely rare and requires accurate radiological recognition.

The disorder is often associated with fibrolipomatous hamartoma, a benign fibrofatty overgrowth.

Abstract

Macrodystrophia lipomatosa (MDL) is a rare congenital disorder marked by excessive proliferation of mesenchymal tissues, predominantly adipose tissue, which often manifests in the upper extremities (particularly the median nerve) and less frequently in the lower extremities (such as the tibial nerve). When MDL affects peripheral nerves, it is commonly associated with fibrolipomatous hamartoma (FLH), a benign fibrofatty overgrowth. The MRI is central to diagnosing MDL, as it provides critical visualization of pathological fat infiltration within the enlarged nerve. We present two cases illustrating the MRI characteristics of MDL in both the median and tibial nerves. Recognizing these hallmark radiological features is essential for accurate diagnosis, differentiation from other neuropathies, and informed management.

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