Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi, Matteo ('Sapienza' University of Rome)
Tasca, Giorgio (Policlinico "A.Gemelli" Foundation University Hospital, Rome)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Ottaviani, Pierfancesco (Istituto Dermopatico dell'Immacolata, Rome)
Laschena, Francesco (Istituto Dermopatico dell'Immacolata, Rome)
Pantoli, Donatella (San Filippo Neri Hospital, Rome)
Gerevini, Simonetta (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS))
Fiorillo, Chiara (Istituto Giannina Gaslini, Genoa)
Maggi, Lorenzo (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan)
Tasca, Elisabetta (IRCCS S.Camillo, Lido di Venezia, Italy)
D'Amico, Adele (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia))
Musumeci, Olimpia (University of Messina)
Toscano, Antonio (University of Messina)
Bruno, Claudio (Istituto Giannina Gaslini, Genoa)
Massa, Roberto (University of Rome Tor Vergata)
Angelini, Corrado (IRCCS S.Camillo, Lido di Venezia)
Bertini, Enrico (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia))
Antonini, Giovanni ('Sapienza' University of Rome)
Pennisi, Elena Maria (San Filippo Neri Hospital, Rome)
Universitat Autònoma de Barcelona

Fecha:	2017
Resumen:	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.
Nota:	Altres ajuts: This work has been supported by Telethon Grant: GGP14066A.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	NLSD ; PNPLA2 ; ABHD5 ; Lipid storage disease ; Muscle MRI
Publicado en:	Journal of Neurology, Vol. 264 (may 2017) , p. 1334-1342, ISSN 1432-1459

DOI: 10.1007/s00415-017-8498-8
PMID: 28503705

9 p, 1.1 MB

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