Ressonância magnética de corpo inteiro em pacientes com miopatia relacionada a mutações no gene da calpaína e correlação com dados clínicos e funcionais
Arquivos
Data
2022-11-03
Autores
Aivazoglou, Laís Uyeda 
Orientadores
Fernandes, Artur da Rocha Corrêa
Tipo
Tese de doutorado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Objetivo: Descrever os achados de ressonância magnética de corpo inteiro (RMCI) em uma coorte brasileira de distrofia muscular de cinturas do tipo R1 (DMCR1) e correlacioná-los com escores funcionais. Métodos: Foram recrutados pacientes com diagnóstico confirmado de DMCR1 em acompanhamento em três centros. Foram coletados dados clínicos e realizada uma avaliação funcional, composta pelas escalas Gardner-Medwin e Walton (GMW) e Brooke. Todos os pacientes foram submetidos a um estudo de RMCI (1,5T) com imagens axiais T1 e STIR. Cinquenta e um músculos foram avaliados de forma semiquantitativa em relação à degeneração gordurosa e ao edema muscular. Resultados: O grupo de estudo foi constituído por 18 pacientes. Todos apresentaram degeneração gordurosa muscular à RMCI, enquanto edema muscular foi encontrado apenas em um terço dos pacientes, em grau leve e em poucos músculos. Os maiores escores de degeneração gordurosa envolveram o serrátil anterior, eretores da espinha lombares, cabeça longa do bíceps femoral e semimembranáceo. Observou-se um gradiente descendente lateromedial e caudocranial de envolvimento dos músculos paravertebrais, com eretores da espinha significativamente mais afetados do que os músculos transversoespinais (p<0,05). Um aspecto listrado do músculo, denominado de "sinal de pseudocólageno", estava presente em 72% dos pacientes. Houve correlação positiva entre o escore de ressonância magnética (RM) e GMW (Rho:0,83) e Brooke (Rho:0,53). Conclusão: A degeneração gordurosa apresentou padrão de acometimento concordante com a literatura. O escore de RM se correlacionou às escalas funcionais. O gradiente descendente lateromedial e caudocranial de envolvimento dos músculos paravertebrais e o sinal de pseudocolágeno estavam presentes em nossa coorte.
Aim. To describe the whole-body magnetic resonance imaging (WBMRI) pattern in a LGMDR1 Brazilian cohort and to correlate the findings with functional scores. Methods. LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner- Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. Results. The study group consisted of 18 patients. All of them presented muscle fatty degeneration at the WBMRI, while muscle edema was found only in one third, mild degree in a few muscles. The highest fatty infiltration scores involved the serratus anterior, lumbar erector spinae, biceps femoris long head and semimembranosus. There was a latero-medial and caudocranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p<0.05). A striped appearance that has been dubbed the “pseudocollagen sign” was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores. Conclusion The WBMRI pattern of muscle fatty degeneration is in agreement with the literature. The MRI score correlated with the functional scales. The latero-medial and caudo-cranial descending gradient of paravertebral muscle involvement and the pseudocollagen sign were present in our cohort.
Aim. To describe the whole-body magnetic resonance imaging (WBMRI) pattern in a LGMDR1 Brazilian cohort and to correlate the findings with functional scores. Methods. LGMDR1 patients under follow-up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner- Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty-one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. Results. The study group consisted of 18 patients. All of them presented muscle fatty degeneration at the WBMRI, while muscle edema was found only in one third, mild degree in a few muscles. The highest fatty infiltration scores involved the serratus anterior, lumbar erector spinae, biceps femoris long head and semimembranosus. There was a latero-medial and caudocranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p<0.05). A striped appearance that has been dubbed the “pseudocollagen sign” was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores. Conclusion The WBMRI pattern of muscle fatty degeneration is in agreement with the literature. The MRI score correlated with the functional scales. The latero-medial and caudo-cranial descending gradient of paravertebral muscle involvement and the pseudocollagen sign were present in our cohort.