Mast Cell Mayhem: Seizures as a Neurologic Complication of Systemic Mastocytosis
Manali Desai1, Matthew Moench1, Michelle Nunes2, Katherine Zarroli1
1University of Florida - Jacksonville, 2Baptist Health Jacksonville
Background:
Systemic mastocytosis is a rare disorder involving the proliferation and accumulation of mast cells in extracutaneous tissues due to a gain of function mutation in the KIT tyrosine kinase gene. The amount of mast cell infiltration, the presence of specific KIT mutations, and serum tryptase levels all aid in the diagnosis of systemic mastocytosis. Neurologic complications, including headaches, back pain, seizures, and changes in consciousness, are rare and have only been described in case reports.
Results:
A 77-year-old man with aggressive systemic mastocytosis presented to the Neurology Clinic for episodic confusion with impaired awareness. His systemic mastocytosis was initially diagnosed by bone marrow biopsy in 2011. In 2018, after worsening gastrointestinal symptoms and weight loss, he was started on therapy with a protein-kinase inhibitor. Genetic testing was completed at this time as well, confirming his diagnosis. His episodic confusion with impaired awareness started in 2017, occurring around 3 times per year. In 2022, he saw a neurologist for the first time and a routine EEG revealed bitemporal slowing and left temporal sharp waves. MRI of the brain demonstrated mild generalized atrophy and moderate periventricular white matter hyperintensities. He was started on levetiracetam and then had a first witnessed focal to bilateral tonic-clonic seizure in 2023. He was later switched to brivaracetam due to tolerability issues with levetiracetam; he is now seizure-free on brivaracetam 75 mg twice a day.
Conclusions:
There is only a single case in the literature of seizures in a patient with systemic mastocytosis. The potential development of seizures, and other neurological symptoms, in systemic mastocytosis is theorized to be related to the release of vasoactive substances, including histamine, and from mast cell infiltration within the meninges. Our case highlights the importance of considering seizures in the differential diagnosis of paroxysmal spells in patients with a systemic mastocytosis.
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