Neurology India最新文献

Objective: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India.

Methods: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay.

Results: Forty-two clinically diagnosed NF1 patients who had confirmed molecular diagnosis, which is now part of the revised diagnostic criteria, were included in the analysis. Nonsense variants were the most frequently observed (35.71%), followed by frameshift (23.8%), splice site (14.29%), deletion (11.9%), missense (9.5%), and in-frame deletions (4.76%) in our case series. Three variants (c. 5269-1G > C, c. 1541_1542del AG, and c. 6853_6854insA) were identified in more than one patient, suggesting that the variants are widely distributed in the gene and lack any mutational hotspot. This study supports the previous findings that patients with the variant c. 2970_2972delAAT do not develop neurofibromas; however, it was not necessary for those with whole gene deletion to have dysmorphic features as reported by other studies. The study could not establish any correlation between the type of variants and specific clinical features. Around 28% of mutations could be identified by screening exons 14, 28, 37, 46 and intron 37 in this population.

Conclusion: This study will contribute to a better understanding of the phenotypic variability of neurofibromatosis patients. The variable expressivity seen in NF1 suggests that modifying genes may be involved in the development of particular clinical features in addition to NF1 mutations.

Stroke is a major public health concern and leads to significant disability. Bilateral thalamic infarcts are rare and can result in severe and chronic cognitive and behavioral disturbances-apathy, personality change, executive dysfunctions, and anterograde amnesia. There is a paucity of literature on neuropsychological rehabilitation in patients with bilateral thalamic infarcts. Mr. M., a 51 years old, married male, a mechanical engineer, working as a supervisor was referred for neuropsychological assessment and rehabilitation with the diagnosis of bilateral paramedian thalamic infarct after seven months of stroke. A pre-post comprehensive neuropsychological assessment of his cognition, mood, and behavior was carried out. The patient received 40 sessions of EEG-Neurofeedback Training. The results showed significant improvement in sleep, motivation, and executive functions, however, there was no significant improvement in memory. The case represents the challenges in the memory rehabilitation of patients with bilateral thalamic lesions.

Proper skull base repair is essential in preventing postoperative cerebrospinal fluid (CSF) leak following endonasal endoscopic skull base surgery. Direct suturing of the skull base dura is desirable but difficult. Here, we discuss the effectiveness of endoscopic suturing of skull base dura in cases of skull base lesions with intraoperative CSF leak. A total of 36 cases (three arachnoid cyst, two Rathke's cleft cyst, two tuberculum sella meningioma, and 29 pituitary adenoma) where dura was sutured endoscopically after endonasal endoscopic excision of lesion were evaluated. Endoscopic suturing was categorized in to three types (type 1 - dura with tumor excised and single suture placed across the anterior tuberculum sella dura to clival dura, type 2 - dura excised partially and repaired with multiple interrupted sutures, type 3 - dura was completely intact at the end of surgery and closed with interrupted suture). Type 1 dura closure was performed in eight cases, type 2 in 16 cases, and type 3 in 12 cases. Two patients with type 1 closure had CSF leak in the postoperative period and managed with lumbar puncture. None of the other patients had CSF leak after surgery. Direct suturing of the skull base dura is effective in preventing postoperative CSF leak. Even a single suture is able to hold the fat graft in place and provides sufficient support against pulsatile CSF flow and thereby reduces the incidence of postoperative CSF leak.