Combined intra- and extra-endoscopic techniques for endoscopic intraventricular surgery with a new mini-tubular port.

Objective: Intraoperative hemorrhage represents a major risk during endoscopic intraventricular surgery. There are very few publications describing the maintenance of hemostasis during conventional endoscopic intraventricular surgery. Here, we designed a new mini-tubular port to combine intra- and extra-endoscopic techniques for endoscopic intraventricular surgery. With this new methodology, complicated techniques can be performed more efficiently with improved bleeding control. Methods: The new mini-tubular port consists of an outer sheath and an obturator. The sheath is a thin-walled transparent cylinder that is 0.35 mm thick, 10 mm in diameter, and 90 mm in length. In this report, we describe the use of the mini-tubular port on 36 patients receiving endoscopic intraventricular surgery. Results: The study enrolled 36 patients, with a median age of 45 years (range: 0-72 years), of which 19 were male and 17 were female. Pure ETV (endoscopic third ventriculostomy) was performed in 20 patients and pure biopsy was performed in 2. ETV and biopsy were performed in five patients, ETV and the removal of cysticerci were performed in five, cyst fenestration was performed in one, ETV and cyst fenestration were performed in two, and ETV and shunt removal were performed in one patient. Two patients received microscopic surgery following endoscopic surgery during the same operation. A total of 17 patients (47%) underwent extra-endoscopic techniques. The median Karnofsky Performance Status (KPS) score of the patients prior to surgery was 50, while the median KPS score of the patients after one month of surgery was 80; these scores were significantly different (P < 0.05), as determined by Wilcoxon's test. In total, 27 patients had a KPS score ≥70% and 75% of patients had a favorable prognosis one month after surgery. None of the patients experienced seizure. Conclusion: The new mini-tubular port can conveniently combine intra- and extra-endoscopic techniques for endoscopic intraventricular surgery. The application of these techniques can efficiently control bleeding during surgery, help improve the confidence of the surgeons involved, and provide a highly efficient approach for performing complicated procedures.

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations.

Cerebral cavernous malformations (CCMs) are vascular lesions that predominantly occur in the brain. CCMs can be sporadic or hereditary in an autosomal dominant manner. The genes harboring variants of familial CCMs (FCCMs) include CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. In this study, we identified a novel CCM1/KRIT1 mutation in a Chinese family with FCCMs. This family consists of 20 members, and 6 of them had been diagnosed with CCMs. The proband patient is a 17-year-old female who has suffered from CCM-related intracranial hemorrhage four times. Magnetic resonance imaging (MRI) revealed four lesions in the different brain regions and one lesion has progressively enlarged. The pathological histology confirmed CCMs. Whole exome sequencing revealed a novel deletion mutation (c.1635delA) within exon 15 of CCM1/KRIT1 gene in the proband patient, her mother, and her uncle who had CCMs. This frameshift mutation led to a premature termination codon (PTC) at nucleotides 1652-1654. We also detected that the CCM1 mRNA levels in the blood lymphocytes of the family members with CCMs were reduced by 46.4% compared to that in healthy controls. Collectively, our results suggested that the CCM1 mutation could potentially be a causative factor for FCCMs in the Chinese family and the reduction of CCM1 mRNA expression in the blood lymphocytes of the patients might be a potential biomarker for the diagnosis and prognosis of CCMs. Our findings expanded the spectrum of CCM mutations and helped to guide genetic counseling and early genetic diagnosis for at-risk family members.