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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG)
Author(s) -
Diego Víctor,
MartínezMonseny Antonio F.,
Muchart Jordi,
Cuadras Daniel,
Montero Raquel,
Artuch Rafael,
PérezCerdá Celia,
Pérez Belén,
PérezDueñas Belén,
Poretti Andrea,
Serrano Mercedes
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-017-0028-4
Subject(s) - atrophy , cerebellum , medicine , magnetic resonance imaging , neuroimaging , cohort , pathology , cardiology , brain size , radiology , psychiatry
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.