Lipomatosis of Nerve and Neuromuscular Choristoma: Two Rare Entities and Their Call for an Animal Model to Understand and Mitigate Nerve-Territory Sequelae

Abstract

Two rare congenital nerve conditions (lipomatosis of nerve (LN) and neuromuscular choristoma (NMC)) share certain commonalities (hypertrophic fusiform lesions, often presenting with neuropathy in adolescent ages and an association with other lesions), but also have important clinical differences (nerve-territory overgrowth and undergrowth, respectively). LN is part of a spectrum of adipose tissue proliferations that affect nerves. NMCs, previously known as benign Triton tumors, are lesions in which mature skeletal muscle is admixed with nerve fascicles. Recent advances have led to the description of classic clinicoradiologic features and the identification of distinct genetic alterations in LN and NMC, that have direct clinical implications and present potential research opportunities for these and other related conditions.