Massimiliano Valeriani

Marfan syndrome (MFS) is a connective tissue disorder classically associated with cardiovascular, musculoskeletal, and ocular manifestations. Neurological involvement is increasingly recognized and is most commonly related to spontaneous intracranial hypotension secondary to dural ectasia and cerebrospinal fluid (CSF) leakage. By contrast, idiopathic intracranial hypertension (IIH) is exceptionally rare in pediatric patients with MFS. We report the case of an 8-year-old girl with Marfan syndrome presenting with neck pain, diplopia, bilateral papilledema, and bilateral sixth cranial nerve palsy. Brain MRI demonstrated optic nerve tortuosity, distension of the perioptic subarachnoid spaces, and partial empty sella, while venous sinus thrombosis and spinal CSF leakage were excluded. Lumbar puncture confirmed markedly elevated CSF opening pressure (48 cmH₂O), consistent with IIH. CSF and plasma neurofilament light chain levels were elevated, whereas anti-MOG antibodies and autoimmune investigations were negative. The patient showed rapid clinical improvement following therapeutic CSF drainage and acetazolamide treatment. To the best of our knowledge, this represents only the second report of pediatric IIH associated with Marfan syndrome. Our patient developed idiopathic intracranial hypertension, an uncommon neurological manifestation in this condition. Through this case, we aim to highlight the diagnostic challenges, discuss the possible pathophysiological mechanisms underlying this rare association and emphasize the importance of considering intracranial hypertension in the differential diagnosis of children with Marfan syndrome presenting with neuro-ophthalmological symptoms.

Background: Diagnosing headache in children and adolescents is challenging because clinical features vary with age, primary and secondary forms may overlap and the use of investigations is often inconsistent. Methods: We conducted a scoping review following PRISMA guidelines. PubMed, Ovid MEDLINE, Scopus and the Cochrane Library were searched for studies on headache diagnosis in individuals aged 1–18 years (2018–2025). Of 126 records identified, 36 met eligibility criteria and were included. Results: Several studies indicate that ICHD-3 criteria, developed mainly in adults, may not fully reflect paediatric presentations, contributing to diagnostic uncertainty. Evidence clarifies the value of some red flags while challenging others. Neuroimaging demonstrates low diagnostic yield except in selected cases. Common pitfalls include overdiagnosis of sinusitis, inappropriate EEG use and unnecessary ophthalmologic or allergologic testing. Conclusions: Accurate diagnosis relies on careful history taking, recognition of age-specific patterns and judicious use of investigations. Paediatric-focused diagnostic pathways are needed. Emerging digital tools and biomarkers may support earlier and more precise diagnosis.

Background: Migraine accounts for most primary headaches in children and adolescents and is related to cortical and connectivity changes. However, the underlying mechanisms remain unclear. Morphometric similarity mapping has not yet been applied to children and adolescents with migraine. Methods: Eighty-three patients (6–17 years) with migraine without aura and 81 age- and sex-matched controls were retrospectively included. High-resolution 3D T1-weighted and diffusion-weighted magnetic resonance imaging scans were processed to extract cortical morphometric parameters and compute morphometric similarity networks (MSN). Global and regional MSN differences were assessed between patients and controls, and across subgroups defined by sex, attack frequency and migraine-associated symptoms. Results: Patients showed significant MSN alterations, particularly in temporal and cingulate regions. Sex emerged as the strongest factor influencing MSN architecture, with additional modulations linked to attack frequency and clinical symptoms. Affected pathways encompassed the executive control, nociceptive and default mode networks. Conclusions: Migraine in children and adolescents is associated with widespread MSN abnormalities, likely reflecting cortical reorganization mechanisms. Male and female patients appear to engage distinct neural “orchestras”, each emphasizing different network sections (sensory–affective in males and cognitive–attentive in females) to produce a shared clinical experience. These findings highlight sex as a key determinant of migraine neurobiology in developmental age.

Diagnosis of migraine remains primarily clinical, and objective biological markers are lacking. Although biomarker research has expanded considerably in ad

Background/Objectives: Multiple sclerosis (MS) is a chronic, demyelinating, inflammatory, and degenerative disease of the nervous system that may present in childhood or adolescence, defined as Pediatric-Onset Multiple Sclerosis (POMS). Among its diverse clinical manifestations, neurogenic bowel dysfunction (NBD), including chronic constipation and fecal incontinence, represents a distressing condition with a substantial impact on quality of life (QoL). Despite its clinical relevance, the evidence on bowel dysfunction in pediatric MS remains limited. The objective of this case series was to evaluate bowel dysfunction and its management in a pediatric MS cohort, and to assess whether it is associated with QoL. Methods: We reported the data on the urological and bowel conditions and on the quality of life of our pediatric patients affected by MS and urological dysfunction. We considered MS patients with urinary symptoms who were referred to our department between January 2019 and January 2024, only including individuals with symptoms onset before 18 years of age. In our series, the demographic and clinical data were reviewed, and patients were re-evaluated via telephone interview at least one year after initiation of treatment. The International Consultation on International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form (ICIQ-UI SF), Pediatric Bowel Management Scoring Tool (PBMST), and Pediatric Quality of Life Inventory (PedsQL, young adults’ version) were used to assess urinary and bowel function and related QoL outcomes. Results: Six patients (four females, two males; median age 14.5 years) were included. Bowel symptoms were reported in four cases (66.6%), predominantly constipation. The PBMST scores indicated overall fair bowel management, while the mean PedsQL score was 62.8/100, with poorer scores observed for the non-adherent patients. Conclusions: Bowel dysfunction constitutes an underrecognized but clinically significant manifestation in pediatric MS. Its early identification and adherence to a structured bowel management program seems to be crucial for optimizing symptom control and preserving quality of life. Standardized questionnaires represent effective, non-invasive tools for assessment and longitudinal monitoring.

Chronic migraine (CM) in childhood and adolescence is associated with a high disease burden, including impaired quality of life, school absenteeism, and reduced daily functioning. OnabotulinumtoxinA (ONA) is approved for prophylactic treatment of CM in adults, but its use in pediatric patients remains off-label, with evidence still limited. This narrative review summarizes current data on the efficacy, safety, and tolerability of ONA in pediatric CM, drawing from randomized controlled trials, prospective cohorts, and retrospective series. In addition to summarizing efficacy and safety data, our review aims to focus on potential practical clinical implications and on discussion points and research questions that remain open.