Presenter
Priscilla S. Paz
Authors and Affiliations
Priscilla S. Paz 1, Angela Yang 2, Mostafa Fatehi 2, John Maguire 1
1 Department of Pathology and Laboratory Medicine, University of British Columbia, BC, Canada
2 Division of Neurosurgery, University of British Columbia, BC, Canada
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
This 29-year-old male presented with a history of intermittent headaches, progressively worsening over one year. He had no nausea, vomiting, or focal neurological deficits. Physical examination was within normal limits.
Family history: His mother was previously diagnosed as having a brain tumour.
Diagnostic Imaging: MRI revealed a 5.3 cm partially enhancing left cerebellopontine angle mass associated with obstructive hydrocephalus.
He underwent a midline suboccipital craniotomy with tumor resection.
Discussion points
- What is your differential diagnosis?
- What additional studies would you perform?
Reveal Diagnosis
Cerebellar Liponeurocytoma
Additional relevant investigations and comment.
Immunohistochemistry showed diffuse positivity for synaptophysin and GFAP, with negative p53 staining. The Ki-67 proliferation index was variable, ranging from low to focally moderately increased.
DNA methylation-based classification revealed focal loses of chromosomes 14 and 2p confirming the diagnosis of cerebellar liponeurocytoma.
This patient’s mother had presented at the age of 56 with cerebellar liponeurocytoma demonstrating focal lipoma-like features.
To the best of our knowledge, only two reports of familial cerebellar liponeurocytoma exist in the literature.1,2
References
1. Pikis, S., Fellig, Y., & Margolin, E. (2016). Cerebellar liponeurocytoma in two siblings suggests a possible familial predisposition. Journal of Clinical Neuroscience, 32, 154-156.
2. Wolf, A., Alghefari, H., Krivosheya, D., Staudt, M. D., Bowden, G., Macdonald, D. R., Goobie, S., Ramsay, D., & Hebb, M. O. (2016). Cerebellar liponeurocytoma: A rare intracranial tumor with possible familial predisposition. case report. Journal of Neurosurgery, 125(1), 57-61.
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