OBJECTIVE
To characterize the clinical features and genetic spectrum of Chinese patients with Sjögren-Larsson syndrome (SLS).
METHODS
We retrospectively reviewed genetically confirmed SLS cases managed in the Functional Neurosurgery Department of Beijing Children's Hospital. We also searched Chinese- and English-language databases to identify additional SLS cases for comparative analysis. Structural effects of detected variants on fatty aldehyde dehydrogenase (FALDH) were explored using PDB-derived models and PyMOL.
RESULTS
Three SLS patients were identified, including one carrying a novel variant not previously reported. Literature review yielded 19 additional Chinese cases. Globally, SLS has a broad distribution, with the highest case counts reported in the United States, Sweden, and China. Compared with cohorts from other countries, Chinese patients showed a higher proportion of females, and compound heterozygous variants were more frequent than homozygous variants. The c.1157A > G substitution emerged as the most common variant in Chinese SLS. Three-dimensional modeling suggested that several variants likely perturb FALDH conformation.
CONCLUSION
Chinese SLS patients exhibit distinctive clinical and genetic patterns relative to other populations, with c.1157A > G being the most frequent variant. Structural modeling supports a potential conformational impact of these variants on FALDH.
Feng Chen, Bowen Yu, Yangshuo Wang et al.· Orphanet Journal of Rare Dis...· 0 citations
OBJECTIVE
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with a high prevalence of drug-resistant epilepsy (DRE), significantly affecting patients' quality of life. For patients with TSC lacking localizing epileptogenic tuber, resective surgery is often not feasible. Vagus nerve stimulation (VNS) has been proposed as an alternative surgical therapy, although robust evidence in TSC-related DRE remains limited.
METHODS
A prospective cohort study was conducted between December 2019 and July 2024 across multiple epilepsy centers in China. Seventy patients with TSC-related DRE were enrolled, all lacking resectable epileptogenic tubers on multidisciplinary evaluation and ineligible for resective surgery. Participants were divided into VNS (n = 20) and medication-only (n = 50) groups based on actual treatment, and followed for up to 3 years. Seizure outcomes, anti-seizure medication use, IQ, and quality of life were evaluated longitudinally.
RESULTS
The VNS group demonstrated significantly higher response rates at 1-, 2-, and 3-year follow-ups (65%-75%) compared to the medical treatment group (31%-36%). Median and average seizure frequency reductions were also greater in the VNS group. VNS was associated with significantly higher treatment response than medication, with the relative risk (RR) of response being 1.81 (95% confidence interval [CI]: 1.22-2.67), 2.21 (95% CI: 1.42-3.44), and 2.42 (95% CI: 1.49-3.93) at 1-, 2-, and 3-year follow-ups (p < 0.01). Seizure recurrence was significantly lower in the VNS group (p < 0.01). Moreover, VNS treatment led to significant reductions in anti-seizure medication (ASM) use and improvement in intelligence quotient and quality of life at the 2-year follow-up. Treatment modality was the only independent predictor of clinical response. VNS was well tolerated, with only mild surgical complications and no permanent adverse events reported.
SIGNIFICANCE
VNS significantly improves seizure control, cognitive outcomes, and quality of life, with a favorable safety profile. These findings support VNS as an effective and safe alternative for this specific TSC population. Future randomized controlled trials are warranted to further validate these results.