Abstract
Introduction: Lysosomal storage disorders (LSD) are often characterized by abnormal brain development, reflected by a reduction of intracranial volume (ICV). The aim of our study was to perform a volumetric analysis of intracranial tissues in Fabry Disease (FD), investigating possible reductions of ICV as a potential expression of abnormal brain development in this condition.Materials and Methods: Forty-two FD patients (15 males, mean age 43.3 ± 13.0 years) were enrolled along with 38 healthy controls (HC) of comparable age and sex. Volumetric MRI data were segmented using SPM12 to obtain intracranial tissue volumes, from which ICV values were derived.Results: Mean ICV of FD patients was 8.1% smaller compared to the control group (p < 5·10−5). Unlike what typically happens in neurodegenerative disorders, no significant differences emerged when comparing between the two groups the fractional volumes of gray matter, white matter and CSF (i.e., normalized by ICV), consistent with a harmonious volumetric reduction of intracranial structures.Discussion: The present results suggest that in FD patients an abnormality of brain development is present, expanding the current knowledge about central nervous system involvement in FD, further emphasizing the importance of an early diagnosis.
Highlights
Lysosomal storage disorders (LSD) are often characterized by abnormal brain development, reflected by a reduction of intracranial volume (ICV)
When evaluating possible differences in terms of ICV, Fabry Disease (FD) patients showed significantly smaller volumes compared to healthy controls (HC), with a mean ICV that was 8.1% lower compared to the control group (1267.8 ± 121.5 ml vs. 1379.8 ± 137.2 ml in FD and HC, respectively; p < 5·10−5; 95% confidence interval of the difference = −149.1/−61.4 ml) (Figure 1)
No significant differences emerged between the two groups when comparing the fractional GM (fGM) (50.5 ± 3.6% vs. 50.1 ± 3.9% in FD and HC, respectively; p = 0.41; 95% confidence interval of the difference = −0.6%/1.4%), the fractional white matter (WM) (fWM) (30.6 ± 2.0% vs. 31.4 ± 2.0% in FD and HC, respectively; p = 0.10; 95% confidence interval of the difference = −1.6%/0.1%) and the fractional cerebrospinal fluid (CSF) (fCSF) (18.8 ± 4.4% vs. 18.5 ± 4.0% in FD and HC, respectively; p = 0.86; 95% confidence interval of the difference = −1.0%/1.7%)
Summary
Lysosomal storage disorders (LSD) are often characterized by abnormal brain development, reflected by a reduction of intracranial volume (ICV). Several studies were conducted to investigate possible changes in relative brain tissue (especially gray matter – GM–) volumes in FD [7, 8, 10], to the best of our knowledge, no study has focused on the evaluation of total intracranial volume (ICV). This latter measure represents a proxy for the maximal brain growth obtained during development and maturation [11, 12], whose changes may represent a possible indicator of neurodevelopmental anomaly
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