Figure 1
Teaching Case
SectionNeuroradiology
Case TypeClinical Cases
AuthorsRolf Munkholm Jensen, Yousef Wirenfeldt Nielsen
Connected authors
66 years, female
The patient was admitted to our hospital due to dyspnoea, confusion and abdominal pain. The past medical history showed that the patient was wheelchair dependant and in need of non-invasive ventilation support because of chronic respiratory insufficiency. An uenhanced CT of the abdomen was performed .
Limb-girdle muscular dystrophy.
Duchenne muscular dystrophy
Other types of muscular dystrophies
Unhenhanced CT showed marked atrophy and fatty infiltration of muscles in the abdominal wall, back, pelvic girdle, and upper legs. Muscle tissue is almost completely replaced by fat.
Limb-Girdle muscular dystrophy (LGMD) refers to a genetically heterogeneous group of hereditary muscular dystrophies. The disease is characterized by proximal muscular dystrophy, elevated creatine kinase levels and a wide range in age of onset and spectrum of clinical severity (1).
The different types of LGMD are divided into two main groups; the more frequent autosomal recessive (type 2 LGMD) and the less frequent autosomal dominant (type1 LGMD) (2). The disease can be further subdivided on the basis of more complicated gene or protein abnormalities (2). The diagnosis of LGMB is derived through physical and neurological examination, biochemical testing, electromyography (EMG), muscle biopsy, and genetic analysis including mode of heritance (2).
CT imaging may be applied to evaluate the presence and extent of muscular change and involvement in patients with muscular dystrophy (3). The radiological features of muscular dystrophies are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles (2). CT can detect the density changes in muscle tissue as it becomes replaced by fat and can help distinguish between a proximal or distal disease. Furthermore, CT have proven helpful in selecting a proper site for muscle biopsy (4).
The most distinctive CT-findings in LGMD include spot-like fatty infiltration, more patchy fatty involvement and complete low density areas (complete fatty infiltration and atrophy) where muscle tissue would normally be present. Most affected are upper legs, lower legs and the pelvic girdle and the involvement is symmetrical (2). The patient in the present case has severe atrophy of all muscle groups.
Both ultrasound and CT are well established imaging modalities in the evauation of muscle disorders. However, MRI is increasingly being used to evaluate neuromuscular disorders. The advantages of MRI are the superior soft tissue contrast and lack of ionising radiation. It has been shown that MRI has a higher sensitivity in the detection of dystrophic changes in muscles compared with CT (3).
The different types of LGMD are divided into two main groups; the more frequent autosomal recessive (type 2 LGMD) and the less frequent autosomal dominant (type1 LGMD) (2). The disease can be further subdivided on the basis of more complicated gene or protein abnormalities (2). The diagnosis of LGMB is derived through physical and neurological examination, biochemical testing, electromyography (EMG), muscle biopsy, and genetic analysis including mode of heritance (2).
CT imaging may be applied to evaluate the presence and extent of muscular change and involvement in patients with muscular dystrophy (3). The radiological features of muscular dystrophies are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles (2). CT can detect the density changes in muscle tissue as it becomes replaced by fat and can help distinguish between a proximal or distal disease. Furthermore, CT have proven helpful in selecting a proper site for muscle biopsy (4).
The most distinctive CT-findings in LGMD include spot-like fatty infiltration, more patchy fatty involvement and complete low density areas (complete fatty infiltration and atrophy) where muscle tissue would normally be present. Most affected are upper legs, lower legs and the pelvic girdle and the involvement is symmetrical (2). The patient in the present case has severe atrophy of all muscle groups.
Both ultrasound and CT are well established imaging modalities in the evauation of muscle disorders. However, MRI is increasingly being used to evaluate neuromuscular disorders. The advantages of MRI are the superior soft tissue contrast and lack of ionising radiation. It has been shown that MRI has a higher sensitivity in the detection of dystrophic changes in muscles compared with CT (3).
References
[1] Mathews KD, Moore SA (2003) Limb-girdle muscular dystrophy. Curr Neurol Neurosci Rep 2003;3(1):78–85. (PMID: 12507416)
[2] Özsarlak Ö, Schepens E, Parizel PM, Van Goethem JW, Vanhoenacker F, De Schepper AM, et al. (2001) Hereditary neuromuscular diseases. Eur J Radiol 2001;40(3):184–97. (PMID: 11731207)
[3] Wattjes MP, Kley RA, Fischer D. (2010) Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010;20(10):2447–60. (PMID: 20422195)
[4] Dam L Ten, Van Der Kooi AJ, Van Wattingen M, De Haan RJ, De Visser M. (2012) Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology 2012;79(16):1716–23. (PMID: 23035061)
Case information
| URL: | https://www.eurorad.org/case/11942 |
| DOI: | 10.1594/EURORAD/CASE.11942 |
| ISSN: | 1563-4086 |
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark
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Department of Radiology, Herlev University Hospital, Copenhagen, Denmark