Jul 22, 2008 - DOI 10.1007/s00330-008-1071-1. MUSCULOSKELETAL. Nicolai Schramm. Christine Born. Sabine Weckbach. Peter Reilich. Maggie C. Walter.
Eur Radiol (2008) 18: 2922–2936 DOI 10.1007/s00330-008-1071-1
Nicolai Schramm Christine Born Sabine Weckbach Peter Reilich Maggie C. Walter Maximilian F. Reiser
Received: 3 January 2008 Revised: 7 May 2008 Accepted: 6 June 2008 Published online: 22 July 2008 # European Society of Radiology 2008
N. Schramm (*) . C. Born . S. Weckbach . M. F. Reiser Institute for Clinical Radiology, Ludwig-Maximilians-University, Ziemssenstr. 1, 80336 Munich, Germany e-mail: nicolai.schramm@med. uni-muenchen.de Tel.: +49-89-51609101 Fax: +49-89-51609102 P. Reilich . M. C. Walter Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany
MUSCULO SKELETAL
Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol
Abstract Whole-body MRI (WB-MRI) has been successfully applied for oncologic and cardiovascular diagnostics, whereas imaging in myopathies usually employs dedicated protocols restricted to areas of specific interest. In this study, we propose a comprehensive neuromuscular WB-MRI protocol. Eighteen patients with degenerative and inflammatory muscle diseases were included. Whole-body imaging was performed on a 1.5-T MR system using parallel imaging. Examination time was 41:26 min. Coronal and axial T1-weighted and coronal short tau inversion recovery (STIR) sequences of the whole body were acquired. Images were analysed by two radiologists. With this protocol we could detect characteristic involvement patterns in different myofibrillar myopathies (MFMs): Patients with
Introduction The first results of whole-body MRI were published between 1997 and 2001 [1–7]. However, these protocols were not introduced into routine care because examination times were too long or the image quality was reduced compared with dedicated examinations. During one examination the patient had to be repositioned and the coils had to be repeatedly rearranged. One of the approaches to solve these problems was the introduction of a rolling table platform [8], which is mounted on top of the MRI table. Another important step was the implementation of parallel imaging techniques (PAT) [9–12] in which different MR signal intensities and
myotilinopathy showed frequent involvement of the rhomboid muscles (4/5), the erector spinae (5/5), the biceps femoris and the semimembranosus (5/5), while the semitendinosus was relatively spared (2/5). In contrast, in desminopathy patients the ilipsoas (3/4), the sartorius, (3/4), the gracilis (3/4) and the semitendinosus (3/4) were frequently involved, while the semimembranosus was spared (1/4). As shown for MFMs, WB-MRI is an appropriate modality to detect fatty infiltration and oedema in skeletal muscles. WB-MRI could be more useful than dedicated examinations for differential diagnosis, muscle biopsy planning and noninvasive follow-up examinations. Keywords Whole-body MRI . Parallel imaging . Myopathy . Desminopathy . Myotilinopathy
different spatial intensity profiles are detected by using multiple receiver coils simultaneously [13]. The number of phase encoding steps can be reduced without compromising image quality. Advantages of PAT are higher spatial or temporal resolution within a given time or a shorter acquisition time for the same spatial information compared with conventional techniques [14–16]. Protocols using these new techniques were mainly described for whole-body cancer staging, whole-body cardiovascular examination and screening for malignancy and cardiovascular disease in general [4, 13, 16–18]. WB-MRI has been employed in the diagnosis of multiple myeloma [6, 19] and bone metastasis [2, 20, 21], whereas few publications address the evaluation of
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WB-MRI in other diseases of the musculoskeletal system. However, myopathies and other neuromuscular diseases seem to be a promising field for whole-body MRI. Owing to the fast development of molecular biology during the recent decades more than 100 genetically distinct forms of inherited myopathies with various involvement of proximal and distal muscle groups could be identified [22]. Limb-girdle muscular dystrophies (LGMD) and congenital muscular dystrophies (MDC) represent two heterogeneous groups of genetic diseases differing in clinical severity and age of onset [23]. Myofibrillar myopathies (MFM) are a heterogeneous group of inherited or sporadic myopathies with accumulation of myofibrillar proteins [24]. Mutations in the human desmin gene were first shown to be the cause of MFM. Later on, mutations in myotilin, alpha-B-crystallin, filamin-c and ZASP were also found to cause MFM. In each of these disorders, weakness in proximal and distal muscles of lower and upper limbs can be observed [25, 26]. Various myopathies, e.g. different LGMD subtypes or myotonic dystrophies, show typical patterns of muscle involvement in MRI [27–29]. So far, imaging in muscle diseases has focussed on the evaluation of the pelvic girdle, the thighs and the lower legs. As many muscular dystrophies occur in childhood, short protocols with axial T1w slices have been proposed for pediatric settings [22, 30]. Only a few studies and two
review articles deal with the potential value of WB-MRI in muscle diseases [15, 21, 31]. The purpose of this study was to evaluate a comprehensive whole-body MRI protocol using T1w and short tau inversion recovery (STIR) sequences designed for patients with degenerative and inflammatory myopathies.
Subjects and methods Patients Eighteen patients (8 female, 10 male, mean age 56 years, range 19–86 years) with degenerative and inflammatory muscle diseases with a variable time of disease duration were included in this study (Table 1). The diagnoses were desminopathy (n=4), myotilinopathy (n=5), two different LGMD subtypes (dysferlinopathy/LGMD2B n=2, FKRPopathy/LGMD2I n=2), inflammatory myopathy (Jo-1-syndrome n=2), distal degenerative myopathy (n=1), facioscapulohumeral muscular dystrophy (FSHD n=1) and X-linked Emery–Dreifuss muscular dystrophy (X-EDMD n=1). All diagnoses were genetically or biochemically (Jo-1-syndrome) confirmed except for one LGMD and one distal myopathy patient. Written informed consent was obtained from all patients prior to the examination. The study was in accordance with the ethical
Table 1 Patients characteristics Patient
Gender
Age (years)
Diagnosis
Disease duration (years)
CK (
