Muscle MRI in neutral lipid storage disease (NLSD)

Journal of Neurology
Matteo GaribaldiElena Maria Pennisi

Abstract

Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic "patchy" replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with "patchy" areas of fatty replacem...Continue Reading

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Citations

Aug 2, 2018·Muscle & Nerve·David GóMez-AndrésSusana Quijano-Roy
Dec 12, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Alicia Alonso-JimenezJordi Diaz-Manera
Feb 18, 2020·The International Journal of Neuroscience·Hongliang XuShuang Li
Sep 14, 2018·Acta Neuropathologica Communications·Matteo GaribaldiGiovanni Antonini
Oct 28, 2019·Orphanet Journal of Rare Diseases·Wei ZhangYun Yuan
Nov 28, 2018·Journal of Clinical Medicine·Elena Maria PennisiGiovanni Antonini
Jan 2, 2021·Neuromuscular Disorders : NMD·Matteo GaribaldiGiovanni Antonini
Jan 18, 2021·Liver International : Official Journal of the International Association for the Study of the Liver·Erol Cakmak, Gokhan Bagci
Nov 10, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Matteo GaribaldiGiovanni Antonini

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Methods Mentioned

BETA
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