Clinical and Translational Neuroscience

Background: The management of asymptomatic lumbosacral lipomas remains controversial, with studies reporting both prophylactic surgery and conservative management. This review compares conservative and surgical treatment approaches for asymptomatic lumbosacral lipomas in children, analyzing outcomes, complications and secondary treatment. Methods: A systematic literature review was conducted using PubMed, Cochrane, and Web of Science databases. Data were extracted and analyzed based on demographic characteristics, lipoma classification, treatment modality, complications and secondary treatment. Results: A total of 22 retrospective studies comprising 1215 patients were included. The mean age was 1.87 years, with a 1.12:1 female-to-male ratio. Dorsal lipomas were the most common subtype (31.6%). At first, a total of 1017 (83.7%) patients underwent surgery, whereas 198 (16.3%) patients had conservative management. Total resection was achieved in 422 (41.9%) patients, whereas subtotal resection and partial resections were performed in 261 (25.9%) and in 334 (33.29%) patients, respectively. Neurological worsening occurred in 17.2% of patients treated conservatively at first diagnosis, with urological dysfunction being the most common symptoms reported (15.2%), followed by neurological deficit to the lower limbs (12.6). Conservative management following prior surgical intervention was performed in 2.6% of cases. A favorable outcome was observed in 88.7% of patients following surgical resection and in 81.8% of patients who were not treated surgically. Conclusion: While surgical intervention is associated with operative risk, it provides a lower risk of long-term neurological deterioration compared to conservative management. The decision to operate should be individualized, considering patient age, anatomical complexity and based on risk of progression.

Objective: Alzheimer’s disease (AD) and other forms of dementia are a heterogeneous group of neurodegenerative diseases characterized by progressive cognitive decline. Differential diagnosis between AD and other dementias is crucial for choosing the optimal treatment strategy. Currently, cerebrospinal fluid (CSF) analysis remains the most accurate diagnostic method, but its invasiveness limits its use. In this regard, the search for reliable biomarkers in the blood is an urgent task. Methods: The study included 31 dementia patients (23 women and 8 men) diagnosed via interdisciplinary consultations and neuropsychological testing (MMSE ≤ 24). CSF and blood plasma samples were collected and analyzed using Luminex technology. Biomarker concentrations were measured, and statistical analyses (ANOVA, Kruskal–Wallis, and Pearson correlation) were performed to compare groups and assess correlations. Results: Levels of Aβ40 and Aβ42 in CSF were significantly lower in patients with AD compared with non-AD dementia (p = 0.02 and p < 0.001, respectively). The Aβ42/40 ratio in CSF was higher in patients with non-AD dementia (p = 0.048). The concentration of Aβ42 in blood plasma was increased in patients with AD (p = 0.001). Positive correlations were found between Aβ42 in CSF and TDP-43 in plasma in non-AD dementia (r = 0.97, p < 0.001), as well as between neurogranin and TDP-43 in plasma in AD (r = 0.845, p < 0.001). Conclusions: The study demonstrates the potential of blood biomarkers, in particular Aβ42, for the differential diagnosis of AD and other forms of dementia. The discovered correlations between CSF and plasma biomarkers deepen the understanding of neurodegenerative processes and contribute to the development of noninvasive diagnostic methods.

Down Syndrome Regression Disorder (DSRD) is a rare but severe neuropsychiatric condition characterized by abrupt loss of speech, autonomy, and cognitive abilities in individuals with Down syndrome, often associated with immune dysregulation and gut–brain axis dysfunction. We report the case of an 11-year-old girl with Down syndrome who developed developmental regression at age five, in temporal proximity to a family transition (the birth of a younger sibling), with loss of continence, language, and comprehension, alongside persistent behavioral agitation and gastrointestinal symptoms. Laboratory assessment revealed Giardia duodenalis infection, elevated fecal calprotectin and secretory IgA, and microbial imbalance with overgrowth of Streptococcus anginosus and S. sobrinus. The patient received a single oral dose of tinidazole (2 g), daily folinic acid (1 mg/kg), and a 90-day course of transcranial and abdominal photobiomodulation (PBM) (1064 nm, 10 min per site). Post-treatment, stool analysis showed normalized inflammation markers and restoration of beneficial bacterial genera (Bacteroides, Bifidobacterium, Lactobacillus) with absence of Enterococcus growth. Behaviorally, she exhibited marked recovery: CARS-2-QPC decreased from 106 to 91, ABC from 63 to 31, and ATEC from 62 to 57, alongside regained continence, speech, and fine-motor coordination. These outcomes suggest that abdominal and transcranial PBM, by modulating mitochondrial metabolism, mucosal immunity, and microbiota composition, may facilitate systemic and neurobehavioral recovery in DSRD. This translational case supports further investigation of PBM as a non-invasive, multimodal therapy for neuroimmune regression in genetic and developmental disorders including validation through future randomized controlled clinical trials.