Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis
Related Experiment Video
Updated: Feb 4, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Lorenzo Ugga1, Sirio Cocozza1, Giuseppe Pontillo1
1Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Background And Purpose:
Multiple Sclerosis (MS) has been proposed as a possible differential diagnosis with Fabry Disease (FD). We evaluated the incidence of infratentorial lesions in FD patients, investigating whether their presence could help in differentiating these two conditions. We explored the diagnostic accuracy of this sign alone and in combination to the involvement of corpus callosum (CC).
Methods:
White Matter lesions were retrospectively evaluated on FLAIR images available from 136 MS and 144 FD patients. Infratentorial involvement was assessed considering the whole cerebellum, and the part of the brainstem included between the occipital foramen and the upper edge of the red nucleus. Furthermore, the presence of callosal lesions was also recorded, evaluating the portion of CC included between the two external walls of the lateral ventricles.
Results:
Infratentorial involvement was detectable in 119/136 (87.5%) MS patients, while it was present in only 17/144 (11.8%) FD patients. When the diagnostic performance of a positive infratentorial involvement was evaluated in combination with the presence of CC lesions, a specificity of 97%, with a positive predictive value of 96% was reached.
Conclusions:
We concluded that the absence of infratentorial lesions, especially when combined to the evaluation of other typical imaging features, can help in the differential diagnosis between MS and FD.
Insights
The absence of infratentorial lesions, particularly when combined with corpus callosum (CC) lesion evaluation, aids in distinguishing Multiple Sclerosis (MS) from Fabry Disease (FD). This imaging finding is crucial for accurate differential diagnosis.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Multiple Sclerosis (MS) and Fabry Disease (FD) can present overlapping symptoms, necessitating clear diagnostic criteria.
- Infratentorial lesions are a key area of investigation for differentiating these conditions.
Purpose of the Study:
- To evaluate the incidence of infratentorial lesions in patients with Fabry Disease (FD).
- To determine if infratentorial lesion presence aids in differentiating FD from Multiple Sclerosis (MS).
- To assess the diagnostic accuracy of infratentorial lesions, alone and with corpus callosum (CC) involvement.
Main Methods:
- Retrospective analysis of FLAIR MRI images from 136 MS and 144 FD patients.
- Assessment of infratentorial lesions in the cerebellum and brainstem.
- Recording of corpus callosum (CC) lesions within the lateral ventricles.
Main Results:
- Infratentorial involvement was observed in 87.5% of MS patients versus 11.8% of FD patients.
- Combining infratentorial and CC lesion evaluation yielded 97% specificity and 96% positive predictive value.
Conclusions:
- Absence of infratentorial lesions is a significant indicator for differentiating MS from FD.
- Integrating infratentorial lesion assessment with other imaging features improves diagnostic accuracy.
Related Concept Videos
01:23Binet's Contribution to Measures of Intelligence
01:23Wechsler's Contribution to Measures of Intelligence
01:22Nursing Diagnosis
The nursing diagnosis focuses on evidence-based...
01:49Multiple Allele Traits
01:26Formulating and Validating Nursing Diagnosis I
There are thirteen domains...
01:10Documentation of Nursing Diagnosis
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...