Muscle MRI in pediatrics: clinical, pathological and genetic correlation

Cejas, Claudia; Serra, Mercedes; Galvez, David F. Gonzalez; Cavassa, Eliana; Taratuto, Ana Lía; Vazquez, Gabriel A.; Massaro, Mario; Schteinschneider, Angeles V.

doi:10.1007/s00247-016-3777-6

Cited by 13 publications

(12 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…La resonancia magnética muscular (RMM) ha surgido como una excelente herramienta de apoyo en el diagnóstico y seguimiento de diversas miopatías y distrofias musculares. Lo anterior se atribuye a diversos factores dentro de los cuales están: su mejor resolución comparado con la tomografía computarizada y ultrasonido, avances en el conocimiento de patrones específicos de compromiso muscular asociados a mutaciones en ciertos genes y la posibilidad de usar scores semicuantitativos para determinar el grado de compromiso muscular, pudiendo ayudar en la elección del mejor músculo para realizar biopsia, objetivar la progresión de la enfermedad y efectos de terapias 29 . En cuanto a los protocolos usados para la adquisición de las imágenes en RMM, existen algunos consensos como el del TREAT-NMD NMR (2009), donde las secuencias T1w son consideradas las más apropiadas para el detalle anatómico y para determinar área o volumen de sección transversal muscular.…”

Section: Resonancia Magnética Muscularunclassified

“…Hasta ahora, el análisis del patrón de compromiso muscular se ha realizado principalmente en los miembros inferiores y para una correcta interpretación es ideal una aproximación sistemática en la cual se debe considerar 29 Específicamente, los hallazgos encontrados en la RMM pacientes con M-COLVI han sido ampliamente documentados en la literatura, con un patrón de afectación de las extremidades inferiores característico 33,34 (Figura 3):…”

Section: Resonancia Magnética Muscularunclassified

See 1 more Smart Citation

Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular

Suárez

Lozano-Arango

Araneda

et al. 2018

Rev. chil. pediatr.

View full text Add to dashboard Cite

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

show abstract

Section: Resonancia Magnética Muscularunclassified

Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular

Suárez

Lozano-Arango

Araneda

et al. 2018

Rev. chil. pediatr.

View full text Add to dashboard Cite

show abstract

“…Testing of myodystrophy genes confirmed the diagnosis of MDC1A. Muscle MRI, a noninvasive method of assessing the extent of muscle damage, has become a very useful tool in the diagnosis and follow-up of patients with muscle diseases, including muscular dystrophy, inflammatory myopathies and metabolic myopathies (10,11). Muscle MRI may be under-utilized in patients with MDC1A.…”

Section: Molecular Genetic Testingmentioning

confidence: 99%

Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

Liang¹,

Li²,

Chen³

et al. 2017

Biomedical Reports

View full text Add to dashboard Cite

Abstract. The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral. Gene sequencing demonstrated a heterozygous frame-shift mutation in the LAMA2 gene, consisting of an AG deletion at nucleotides 2049-2050 (LAMA2 c.2049_2050delAG). Lower limb muscle MRI presented obvious fatty infiltration of the muscles and muscle atrophy during the early stage of the disease. The gluteus maximus, erector spinae, vastus intermedius, vastus lateralis, adductor magnus, soleus and gastrocnemius muscles were involved, whereas the piriformis, obturator internus, pectineus, adductor longus, adductor brevis and sartorius muscles presented mild or no involvement. Fatty infiltration of the erector spinae was observed during the early stage of the disease. As an additional tool in the differential diagnosis of muscle disorders, muscle MRI can delay the need for muscle biopsy.

show abstract

“…3 In the last decade, imaging techniques such as muscle magnetic resonance imaging (MRI) and ultrasound (US) have been proven to be reliable noninvasive tools for the diagnosis and increasingly for the quantitative evaluation of progression for genetically heterogeneous myopathies and muscular dystrophies. [4][5][6][7][8][9] These imaging techniques can assess the extent of muscle damage and discriminate between different pathologies Keywords ► genetic myopathies ► muscular dystrophies ► magnetic resonance imaging ► ultrasound…”

Section: Introductionmentioning

confidence: 99%

“…[13][14][15][16][17][18] Recent reviews have provided detailed descriptions regarding quantitative imaging techniques and the diagnostic value of muscle MRI and US. 4,6,9,11,19,20 Computed tomography (CT) is now less often used as a diagnostic imaging tool for genetic muscle diseases due to harmful ionizing radiation effects, particularly in pediatric populations and will not be included in this review. As there are over 200 different molecular subtypes of genetic muscle diseases and many anecdotal reports about imaging findings, it will not be possible to comprehensively summarize patterns of pathology as detected by MRI or US.…”

Section: Introductionmentioning

confidence: 99%

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

Warman‐Chardon

Straub

2017

Neuropediatrics

View full text Add to dashboard Cite

Muscle magnetic resonance imaging (MRI) and ultrasound (US) are emerging tools to assist in the diagnosis of children with genetic muscle disease. Increasing number of studies demonstrate that these imaging techniques can identify selective patterns of muscle atrophy, fatty degeneration, and muscle edema that help to distinguish between different early-onset genetic myopathies and muscular dystrophies. Recognizing patterns of pathology by muscle imaging can help to guide genetic testing and avoid the more invasive procedure of a muscle biopsy. Conversely, since massive parallel sequencing is now more commonly used as the initial step in diagnostic testing, imaging techniques can help to confirm or exclude if a variant of uncertain significance is indeed disease causing and compatible with a pattern of pathology as detected by muscle imaging. Whereas for diagnostic purposes and pattern recognition, muscle pathology does not need to be quantified, measuring disease progression is increasingly supported by quantitative muscle imaging, which is critical given the recent increment in rare disease therapeutic trials. Here, we discuss the value of muscle imaging techniques in pediatric muscle disease and summarize data identifying specific patterns of involvement in muscle MRI and US in some of the more common genetic myopathies and muscular dystrophies.

show abstract

Muscle MRI in pediatrics: clinical, pathological and genetic correlation

Cited by 13 publications

References 38 publications

Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular

Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular

Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease

Contact Info

Product

Resources

About