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MR findings in mannosidosis
J L Dietemann1, M M Filippi de la Palavesa, C Tranchant
1Service de Radiologie Médico-Chirurgicale B, Hôpital Central, Strasbourg, France.
Abstract:
MR findings are reported in three patients presenting mannosidosis. Among a family of 8 children, 4 presented typical clinical and biological abnormalities related to mannosidosis. Brain MR examinations including sagittal T1 and axial T2 sections were obtained in three patients of this family (one 25-year-old male, one 34-year-old female, and one 35-year-old female). MR scans demonstrate seven types of modifications: (1) brachycephaly, (2) thick calvaria, (3) verticalization of the chiasmatic sulcus, (4) poor pneumatization of the sphenoid body, (5) partial empty sella turcica (6) cerebellar atrophy, and (7) white matter signal modifications. High signal abnormalities involving the parieto-occipital white matter are identified on axial T2-weighted scans in the three patients and are probably related to demyelination and associated gliosis as described previously by several authors on specimens.
Insights
Mannosidosis, a rare genetic disorder, presents distinct brain abnormalities on MRI scans. These findings, including cerebellar atrophy and white matter changes, aid in diagnosing this lysosomal storage disease.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Mannosidosis is a rare lysosomal storage disease.
- It results from deficient alpha-mannosidase activity.
- This leads to the accumulation of mannose-rich oligosaccharides in tissues.
Observation:
- MR imaging was performed on three individuals from a family with mannosidosis.
- The patients exhibited characteristic clinical and biological abnormalities.
- Brain MRI included sagittal T1 and axial T2 sequences.
Findings:
- Seven distinct MR modifications were observed: brachycephaly, thick calvaria, verticalized chiasmatic sulcus, poor sphenoid pneumatization, partial empty sella turcica, cerebellar atrophy, and white matter signal abnormalities.
- Parieto-occipital white matter exhibited high signal intensity on T2-weighted scans.
- These white matter changes are likely due to demyelination and gliosis.
Implications:
- MRI findings can aid in the diagnosis and understanding of mannosidosis.
- The observed abnormalities highlight the neurodegenerative aspects of the disease.
- Further research can correlate imaging findings with disease progression and severity.