Produção Nacional
Revisado por pares
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
2021; Springer Science+Business Media; Volume: 269; Issue: 5 Linguagem: Inglês
10.1007/s00415-021-10806-0
ISSN1432-1459
AutoresSusana Quijano‐Roy, Jana Haberlová, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, M. Gómez García de la Banda, Giorgio Tasca, Laura Costa-Comellas, A. Bénézit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Béroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sánchez‐Montáñez, Ximena Ortega, Martin Kynčl, Corinne Métay, David Gómez‐Andrés, Robert Carlier,
Tópico(s)Cell Adhesion Molecules Research
ResumoLAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency.To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI).27 patients (2-62 years, 21-80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A "COL6-like sandwich sign" was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression.WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.
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