Muscle MRI in neutral lipid storage disease (NLSD)

Matteo Garibaldi, G Tasca, J Diaz-Manera, P Ottaviani, F Laschena, Donatella Pantoli, S Gerevini, C Fiorillo, L Maggi, E Tasca, A D’Amico, O Musumeci, A Toscano, C Bruno, Roberto Massa, C Angelini, E Bertini, Giovanni Antonini, EM Pennisi

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I. © 2017 The Author(s)
Original languageEnglish
Pages (from-to)1334-1342
Number of pages9
JournalJournal of Neurology
Volume264
Issue number7
DOIs
Publication statusPublished - 2017

Fingerprint

Lipids
Muscles
Rotator Cuff
Lipid Metabolism Disorders
Upper Extremity
Lower Extremity
Leg
Skeletal Muscle

Cite this

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., ... Pennisi, EM. (2017). Muscle MRI in neutral lipid storage disease (NLSD). Journal of Neurology, 264(7), 1334-1342. https://doi.org/10.1007/s00415-017-8498-8

Muscle MRI in neutral lipid storage disease (NLSD). / Garibaldi, Matteo; Tasca, G; Diaz-Manera, J; Ottaviani, P; Laschena, F; Pantoli, Donatella; Gerevini, S; Fiorillo, C; Maggi, L; Tasca, E; D’Amico, A; Musumeci, O; Toscano, A; Bruno, C; Massa, Roberto; Angelini, C; Bertini, E; Antonini, Giovanni; Pennisi, EM.

In: Journal of Neurology, Vol. 264, No. 7, 2017, p. 1334-1342.

Research output: Contribution to journalArticle

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 2017, 'Muscle MRI in neutral lipid storage disease (NLSD)', Journal of Neurology, vol. 264, no. 7, pp. 1334-1342. https://doi.org/10.1007/s00415-017-8498-8
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D et al. Muscle MRI in neutral lipid storage disease (NLSD). Journal of Neurology. 2017;264(7):1334-1342. https://doi.org/10.1007/s00415-017-8498-8
Garibaldi, Matteo ; Tasca, G ; Diaz-Manera, J ; Ottaviani, P ; Laschena, F ; Pantoli, Donatella ; Gerevini, S ; Fiorillo, C ; Maggi, L ; Tasca, E ; D’Amico, A ; Musumeci, O ; Toscano, A ; Bruno, C ; Massa, Roberto ; Angelini, C ; Bertini, E ; Antonini, Giovanni ; Pennisi, EM. / Muscle MRI in neutral lipid storage disease (NLSD). In: Journal of Neurology. 2017 ; Vol. 264, No. 7. pp. 1334-1342.
@article{ed3020762ed34433b09a439d9f2b8506,
title = "Muscle MRI in neutral lipid storage disease (NLSD)",
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 replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I. {\circledC} 2017 The Author(s)",
author = "Matteo Garibaldi and G Tasca and J Diaz-Manera and P Ottaviani and F Laschena and Donatella Pantoli and S Gerevini and C Fiorillo and L Maggi and E Tasca and A D’Amico and O Musumeci and A Toscano and C Bruno and Roberto Massa and C Angelini and E Bertini and Giovanni Antonini and EM Pennisi",
year = "2017",
doi = "10.1007/s00415-017-8498-8",
language = "English",
volume = "264",
pages = "1334--1342",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "7",

}

TY - JOUR

T1 - Muscle MRI in neutral lipid storage disease (NLSD)

AU - Garibaldi, Matteo

AU - Tasca, G

AU - Diaz-Manera, J

AU - Ottaviani, P

AU - Laschena, F

AU - Pantoli, Donatella

AU - Gerevini, S

AU - Fiorillo, C

AU - Maggi, L

AU - Tasca, E

AU - D’Amico, A

AU - Musumeci, O

AU - Toscano, A

AU - Bruno, C

AU - Massa, Roberto

AU - Angelini, C

AU - Bertini, E

AU - Antonini, Giovanni

AU - Pennisi, EM

PY - 2017

Y1 - 2017

N2 - 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. © 2017 The Author(s)

AB - 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. © 2017 The Author(s)

U2 - 10.1007/s00415-017-8498-8

DO - 10.1007/s00415-017-8498-8

M3 - Article

VL - 264

SP - 1334

EP - 1342

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 7

ER -