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Lookup NU author(s): Professor Giorgio TascaORCiD, Professor Jordi Diaz ManeraORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2017, The Author(s). 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 replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I.
Author(s): Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2017
Volume: 264
Issue: 7
Pages: 1334-1342
Online publication date: 13/02/2017
Acceptance date: 25/04/2017
Date deposited: 27/02/2020
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Medizin
URL: https://doi.org/10.1007/s00415-017-8498-8
DOI: 10.1007/s00415-017-8498-8
PubMed id: 28503705
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