Ramesh Rishab T, Venkata Sai Mani Deepak Koganti, Chandrasekharan Anupama, Joseph Veena M
Department of Radiology, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Department of Radiology and Imaging, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, IND.
Cureus. 2025 Mar 31;17(3):e81552. doi: 10.7759/cureus.81552. eCollection 2025 Mar.
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.
巨脂性营养不良（MDL）是一种罕见的先天性疾病，其特征为间充质组织过度增生，主要是脂肪组织，常表现于上肢（尤其是正中神经），较少见于下肢（如胫神经）。当MDL累及周围神经时，通常与纤维脂肪瘤性错构瘤（FLH）相关，后者是一种良性纤维脂肪过度生长。MRI对于MDL的诊断至关重要，因为它能对增粗神经内的病理性脂肪浸润进行关键的可视化显示。我们报告两例病例，阐述正中神经和胫神经MDL的MRI特征。认识这些标志性放射学特征对于准确诊断、与其他神经病变相鉴别以及明智的管理至关重要。
