The natural history of non-optic central nervous system (CNS) tumors in neurofibromatosis type 1 (NF1) is largely unknown. Here, we describe prevalence, clinical presentation, treatment, and outcome of 49 non-optic CNS tumors observed in 35 pediatric patients (0–18 years). Patient- and tumor-related data were recorded. Overall survival (OS) and progression-free survival (PFS) were evaluated. Eighteen patients (51%) harbored an optic pathway glioma (OPG) and eight (23%) had multiple non-optic CNS lesions. The majority of lesions (37/49) were managed with a wait-and-see strategy, with one regression and five reductions observed. Twenty-one lesions (42.9%) required surgical treatment. Five-year OS was 85.3%. Twenty-four patients progressed with a 5-year PFS of 41.4%. Patients with multiple low-grade gliomas progressed earlier and had a lower 5-year PFS than those with one lesion only (14.3% vs. 57.9%), irrespective of OPG co-presence. Non-optic CNS tumors are common in young patients with NF1. Neither age and symptoms at diagnosis nor tumor location influenced time to progression in our series. Patients with multiple lesions tended to have a lower age at onset and to progress earlier, but with a good OS.

Background: The World Health Organization (WHO) declared a global pandemic of Covid-19 on 11 March 2020. The lockdown caused a lifestyle changes: an increase in the use of mobile media devices (MMDs), sleep and psychiatric disorders, incorrect habits regarding food and physical activities.We investigate prevalence of admission for seizures at our emergency department (ED), during Italian lockdown, comparing with that of the same period of the previous year (2019), and the relationship with some lifestyle changes.Methods: In this observational study, patients (4–14 years) with seizures that accessed at our ED, during Italian lockdown, were eligible. Non-epileptic events and febrile seizures were excluded. We describe two groups: patients with new-onset seizures and not. Moreover, a questionnaire concerning use of MMDs and sleep habits was administered.Results: Fifty-seven patients were included; median age 8.03 years. Considering only paediatric medical emergencies, the prevalence of accesses for seizures was 2.6% (CI 95% 0.020–0.034), while the incidence was 0.94% (CI 95% 0.006–0.0149). There was a statistically significant difference with prevalence of previous years, χ²102.21 (p= 0.0001). We also reported a difference in daily screen time (DST) (p= 0.001) and total sleep time (TST) (p= 0.045), in all population, between period pre- and during lockdown. A negative correlation between DST and seizures latency (Spearman’s ρ-0.426,p= 0.038) was found. In the two groups, the results were partially overlapping.Conclusions: During lockdown period, we assisted to an increase of accesses for seizures. It is conceivable that a sleep time change and/or higher MMD use could act as triggers for seizures.

Background: Cortical tubers (CTs) are hallmark brain lesions in tuberous sclerosis complex (TSC), historically considered stable in number over time; prior literature has correlated overall CT burden on magnetic resonance imaging (MRI) with disease severity. As longitudinal imaging studies assessing CTs’ evolution over time are lacking, we aim to investigate temporal changes in CTs—both in number and signal—on MRI in a cohort of pediatric TSC patients. Methods: A retrospective single-center analysis was conducted on 57 pediatric TSC patients who underwent longitudinal MRI studies in a 10-year span. Required MRI sequences included volumetric unenhanced T1-weighted, SWI, T2w and/or FLAIR. CTs were evaluated by two neuroradiologists and classified into five subtypes (A, B, C1, C2, D) according to signal characteristics. Statistical comparison was performed using t-tests. Results: Paired t-test analysis demonstrated a significant longitudinal increase in the overall number of CTs, rising from 16.11 ± 12.43 at baseline to 18.77 ± 13.29 at follow-up (mean difference = −2.67, 95% CI [−3.94, −1.39]; t (56) = 4.19; p < 0.0001), corresponding to a moderate effect size (Cohen’s d ≈ 0.56). When stratified by age, patients <2 years—representing the incompletely myelinated subgroup—showed a more pronounced increase in CT burden, from 19.46 ± 15.21 to 24.17 ± 15.75 (mean difference = −4.71, 95% CI [−7.37, −2.04]; t (23) = 3.65; p = 0.0013; d ≈ 0.75). In contrast, patients aged ≥2 years demonstrated a smaller but still significant increase, from 13.67 ± 9.45 to 14.85 ± 9.64 (mean difference = −1.18, 95% CI [−2.08, −0.28]; t (32) = 2.68; p = 0.0115; d ≈ 0.46). Direct comparison between the two subgroups using Welch’s two-sample t-test confirmed that the mean CT count in patients <2 years was significantly higher than in those ≥2 years (mean difference = 3.53 ± 1.36; t = 2.59; df = 28.4; p = 0.0075), with a large effect size (Cohen’s d ≈ 0.78). Type C1-C2 tubers evolved from pre-existing earlier-stage lesions, while most newly visible CTs over time were type A-B. Type D tubers remained rare and derived from earlier-stage CTs. Conclusions: Contrary to previous assumptions, CTs in pediatric TSC showed a tendency to increase in number and evolve in signal over time, thus challenging the notion of stability and suggesting dynamic behavior. Incomplete myelination in early infancy may impact MRI CTs detection by reducing contrast with surrounding brain tissue, potentially leading to their underestimation/misidentification.

Rivista di formazione e di aggiornamento professionale del pediatra e del medico di base, realizzata in collaborazione con l'Associazione Culturale Pediatri

Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a pediatric case of recurrent facial palsy secondary to hyperostosis of the skull and narrowing of the neural foramina related to a SOST-related sclerosing bone dysplasia. To our knowledge, this is the first Italian case that is also related to a novel loss-of-function variant in the SOST gene. We highlight the clinical relevance of a proper early diagnosis and the need for correct monitoring of the clinical evolution, considering the natural history of the disease, to prevent/reduce severe neurological complications.