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MRI of mannosidosis.
M Patlas1, M Y Shapira, A Nagler
1Department of Radiology, Shaare Zedek Medical Center, Jerusalem, Israel.
Neuroradiology
|January 5, 2002
Summary
Magnetic resonance imaging (MRI) reveals characteristic brain abnormalities in mannosidosis patients. Key findings include diploic space widening, sinus hypoplasia, and enlarged periventricular and perioptic cerebrospinal fluid spaces.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Mannosidosis is a rare lysosomal storage disorder affecting multiple organ systems.
- Cerebral involvement in mannosidosis can lead to significant neurological deficits.
- Understanding the specific neuroimaging findings is crucial for diagnosis and management.
Observation:
- This study reports on the magnetic resonance imaging (MR) findings in three patients diagnosed with mannosidosis.
- Detailed analysis of cranial and cervical MRIs was performed to identify characteristic structural changes.
- Clinical correlation with imaging findings was considered.
Findings:
- All three patients exhibited diploic space widening and underdevelopment of the paranasal sinuses.
- Prominent periventricular Virchow-Robin spaces were noted in all cases.
- Two patients presented with a tight foramen magnum, with one also showing a cervical syrinx and markedly widened perioptic cerebrospinal fluid (CSF) spaces associated with papilledema.
Implications:
- The identified MR findings represent potential imaging biomarkers for mannosidosis.
- These neuroimaging features may aid in the early diagnosis of mannosidosis, particularly in cases with ambiguous clinical presentation.
- Further research can explore the correlation between specific MR findings and disease severity or progression.