Neurol Sci. 2025 Aug 19. doi: 10.1007/s10072-025-08397-z. Online ahead of print.
ABSTRACT
BACKGROUND: Stiff-person syndrome (SPS) is a rare neuromuscular autoimmune disorder with significant diagnostic and treatment challenges, particularly in pediatric patients. Current understanding of pediatric SPS is limited; therefore, this systematic review aims to analyze the clinical profile, comorbidities, and treatment responses in these cases.
METHODS: A systematic review was conducted following PRISMA guidelines. Literature from five databases was searched up to March 2025, identifying cases of pediatric SPS (age ≤ 20 years). A total of 961 studies were screened, resulting in 49 cases from 41 reports being included. Data on demographics, symptoms, comorbidities, treatment, and outcomes were analyzed.
RESULTS: The 49 cases were distributed across 15 countries, with the highest representation from the USA (44.89%, n = 22). The median age was 12 years (IQR: 7-17), with a nearly equal male-to-female ratio (51.02% male). Comorbidities were present in 55.1% (n = 27), with type 1 diabetes mellitus (18.36%, n = 9) and thyroid dysfunction (14.28%, n = 7) being the most common. SPS subtypes included mainstream SPS (65.3%, n = 32), PERM (22.44%, n = 11), and stiff-limb syndrome (8.16%, n = 4). Benzodiazepines, primarily diazepam, were the most commonly used first-line therapy (51.02%, n = 25). Adjunctive treatments included corticosteroids (24.48%, n = 12), IVIG (18.36%, n = 9), and rituximab (14.28%, n = 7). Persistent symptoms were noted in 26.53% (n = 13) of cases.
CONCLUSION: This study highlights the clinical heterogeneity and autoimmune nature of pediatric SPS. A proposed treatment protocol which may guide clinicians has been formulated.
PMID:40826302 | DOI:10.1007/s10072-025-08397-z
