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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Extremely rare case of isolated cerebellar amyloidoma: a short report
Dražen Ivetić1,2, Dejan Kostić3,4, Mihailo Bezmarević3,5
1Clinic for Neurosurgery, Military Medical Academy, Belgrade, Serbia. iveticd@yahoo.com.
Abstract:
Brain amyloidoma is an exceedingly rare localized deposition of amyloid that often radiologically mimics neoplastic or inflammatory disease. We report the case of a previously healthy 53-year-old woman who developed subacute right-hand tremor, pain, and weakness, followed by gait instability. Magnetic resonance imaging (MRI) showed a 35-45 mm hypervascular, infiltrative lesion in the right cerebellar hemisphere, extending into the vermis and middle cerebellar peduncle, with ill-defined margins suggesting of posterior fossa tumor. Subtotal resection was performed. Histopathology confirmed amorphous Congo-red positive amyloid material with perivascular and parenchymal distribution, accompanied by lymphoplasmacytic infiltrates lacking light-chain restriction and therefore without evidence of monoclonality, consistent with amyloidoma. According to the literature, fewer than 100 cases of intra-axial brain amyloidoma have been reported, with infratentorial presentations being extremely uncommon and none previously have been described as an isolated intra-axial cerebellar lesion. This case expands the recognized anatomical spectrum of cerebral amyloidoma, highlights its diagnostic pitfalls, and underscores the essential role of histopathology in establishing the diagnosis.
Insights
Brain amyloidoma, a rare amyloid deposit, can mimic tumors. This case highlights an unusual cerebellar presentation, emphasizing the need for histopathology for accurate diagnosis of this rare brain condition.
Area of Science:
- Neuropathology
- Neuroradiology
- Oncology
Background:
- Brain amyloidoma is a rare localized amyloid deposition.
- It often radiologically mimics neoplastic or inflammatory conditions.
- Intra-axial brain amyloidomas are exceptionally rare, with infratentorial presentations being particularly uncommon.
Purpose of the Study:
- To report a unique case of an isolated intra-axial cerebellar amyloidoma.
- To discuss the diagnostic challenges posed by this rare entity.
- To emphasize the importance of histopathology in diagnosing brain amyloidoma.
Main Methods:
- Case report of a 53-year-old woman with subacute neurological symptoms.
- Magnetic resonance imaging (MRI) to characterize the cerebellar lesion.
- Histopathological examination of the resected tissue, including Congo-red staining.
Main Results:
- MRI revealed a hypervascular, infiltrative lesion in the right cerebellar hemisphere.
- Histopathology confirmed amorphous, Congo-red positive amyloid material with lymphoplasmacytic infiltrates.
- The findings were consistent with amyloidoma, lacking evidence of monoclonality.
Conclusions:
- This case represents an extremely rare infratentorial and isolated intra-axial cerebellar amyloidoma.
- Cerebellar amyloidoma presents diagnostic challenges due to its mimicry of other posterior fossa pathologies.
- Histopathological confirmation is crucial for the definitive diagnosis of brain amyloidoma.
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