Leitinger, Markus and Broggi, Serena and Spendel, Mathias and Kalss, Gudrun and Petrovic, Ivan and Krainz, Herbert and Rossini, Fabio and Hoefler, Julia and Toma, Andreea and Kuchukhidze, Giorgi and Mauritz, Matthias and Poppert, Kai-Nicolas and Crespo-Pimentel, Bernardo and Bosque-Varela, Pilar and Pleyers, Anna and Ganger, Patricia and Kotzot, Dieter and Lessel, Davor and Griessenauer, Christoph J. and Trinka, Eugen (2025) Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors. EPILEPSIA OPEN, 10 (1). pp. 329-335. ISSN , 2470-9239
Full text not available from this repository. (Request a copy)Abstract
Intracerebral hemorrhages (ICH) during implantation of stereo-EEG electrodes are rare. The impact of tobacco-free nicotine consumption on periprocedural bleeding is uncertain. We present a 20+ year-old man with drug-resistant epilepsy who underwent stereo-EEG with 17 depth electrodes. Within a few days after insertion, the patient developed multiple ICHs in the electrode trajectories and an intradural hemorrhage after a diagnostic spinal tap. We performed the investigation of the clotting system and whole-exome sequencing (WES). WES identified a heterozygous mutation c.4698G>T, p.(Trp1566Cys) in COL4A2 (NM_001846.4) encoding a collagen type-IV alpha-2 chain inherited from his seemingly healthy mother. As COL4A2 mutations had been identified in four adult patients with ICH we postulated that the identified variant presents a potential risk factor. Notably, mutations encoding other collagens have been linked to cerebral hemorrhages (COL4A1) and increased propensity to trigger ICH upon smoking (COL1A2). Our patient consumed at least 24 oral nicotine pouches (containing 11 mg nicotine each) per day. We consider the patient's COL4A2 mutation in combination with his substantial nicotine consumption as likely predisposition to multiple ICHs precipitated by stereo-EEG. Patients with nicotine consumption and any collagen mutation may have a substantially higher risk for hemorrhagic complications in SEEG and other neurosurgical procedures.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SMOKELESS TOBACCO; NC1 DOMAIN; COL4A1; STROKE; coagulopathy; patient safety; Skruf; tobacco-free nicotine pouch |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Mar 2026 10:32 |
| Last Modified: | 24 Mar 2026 10:32 |
| URI: | https://pred.uni-regensburg.de/id/eprint/64905 |
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