Presenter
Alexander S. Easton
Authors
Abigale D. Maclellan1, Gwynedd E. Pickett1,2, Alexander S. Easton1,3
1Faculty of Medicine, 2Division of Neurosurgery, 3Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada
Clinical Summary
This 63 year old Caucasian male developed symptoms of Covid in March 2020, associated with confusion regarding place and time. In fall 2020 he was diagnosed with Lyme disease associated with joint pains and hair loss, and treated with doxycycline. There were persistent symptoms of confusion and fatigue and in April 2021 he presented to hospital with presyncope, where a CT head scan was performed. This revealed a hypointense subcortical lesion in the right temporal lobe. MR brain was performed in May 2021 which showed a T2 hyperintense region with central enhancement. He was assessed by neurosurgery in July 2021. There was no history of seizures, headache, focal weakness or problems with speech. The patient was HIV positive, diagnosed in 1995, on antiretrovirals with an undetectable viral load. He had low blood pressure with episodes of presyncope. He had smoked for 40 years, but quit in 2016. He inherited a benign essential tremor from his father. CT angiography was arranged, which demonstrated a serpiginous cluster of vessels fed by a prominent artery and draining vein. A stereotactic biopsy was performed, whose neuropathology was inconclusive. Unfortunately, the patient developed a generalized seizure after the biopsy, and has required long term anticonvulsants. He underwent a complete surgical resection in August 2021.
Discussion points
- What proportion of infants with these tumors have intracranial involvement?
- What proportion of these intracranial tumors are intra-axial?
- What tumors are in the differential diagnosis?
Reveal Diagnosis
Intracerebral capillary hemangioma
Additional relevant investigations and comment.
PNA staining: sarcolemmal positivity
Genetic testing: 1 VUS and 1 likely pathogenic variant in GNE
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