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J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13.

Muscle MRI in neutral lipid storage disease (NLSD).

Author information

1
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, 'Sapienza' University of Rome, Sant'Andrea Hospital, Rome, Italy. matteo.garibaldi@uniroma1.it.
2
Institute of Neurology, Policlinico "A.Gemelli" Foundation University Hospital, Rome, Italy.
3
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.
4
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
5
Department of Radiology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
6
Neuroradiology Unit, Department of Radiology, San Filippo Neri Hospital, Rome, Italy.
7
Neuroradiology Department, IRCCS San Raffaele Hospital, Milan, Italy.
8
Pediatric Neurology and Muscular Disorders, Istituto Giannina Gaslini, Genoa, Italy.
9
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
10
IRCCS S.Camillo, Lido di Venezia, Italy.
11
Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.
12
Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
13
Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Rome, Italy.
14
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, 'Sapienza' University of Rome, Sant'Andrea Hospital, Rome, Italy.
15
Department of Neurology, San Filippo Neri Hospital, Rome, Italy.

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.

KEYWORDS:

ABHD5; Lipid storage disease; Muscle MRI; NLSD; PNPLA2

PMID:
28503705
PMCID:
PMC5502068
DOI:
10.1007/s00415-017-8498-8
[Indexed for MEDLINE]
Free PMC Article

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