학술논문
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Document Type
Original Paper
Author
de Diego, Víctor; Martínez-Monseny, Antonio F.; Muchart, Jordi; Cuadras, Daniel; Montero, Raquel; Artuch, Rafael; Pérez-Cerdá, Celia; Pérez, Belén; Pérez-Dueñas, Belén; Poretti, Andrea; Serrano, Mercedes; Aguilera-Albesa, Sergio; Candela, Ramón Cancho; Marina, Ma Llanos Carrasco; Carratalá, Francisco; Couce, Ma Luz; Felipe, Ana; García, Óscar; García-Silva, Ma Teresa; Gutiérrez-Solana, Luis G; Macaya, Alfons; Miranda, Ma Concepción; López, Laura; López-Laso, Eduardo; Póo, M Pilar; Quijada-Fraile, Pilar; Robles, Bernabé; Sierra-Córcoles, Concepción; Velázquez-Fragua, Ramón; Collaborators of the CDG Spanish-Consortium
Source
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2017 40(5):709-713
Subject
Language
English
ISSN
0141-8955
1573-2665
1573-2665
Abstract
Objective:We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement.Methods:Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages.Results:Fifty MRI studies of 33 PMM2-CDG patients were used for 2D evaluation, and 19 MRI studies were available for volumetric analysis. Results from a linear regression model showed that patients have a significantly lower MVRD and cerebellar volume compared to controls (p < 0.001 and p < 0.001 respectively). There was a significant negative correlation between age and MVRD for patients (p = 0.014). The rate of cerebellar atrophy measured by the loss of MVRD and cerebellar volume per year was higher at early ages (r = −0.578, p = 0.012 and r = −0.323, p = 0.48 respectively), particularly in patients under 11 years (p = 0.004). There was a significant positive correlation between MVRD and cerebellar volume in PMM2-CDG patients (r = 0.669, p = 0.001).Conclusions:Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG.