Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.

Aim: Parsonage-Turner syndrome, also known as neuralgic amyotrophy affects the brachial plexus and includes idiopathic (INA) and rare hereditary forms (HNA). Mutations in the gene, which encodes a cytoskeletal GTPase, have been implicated in HNA. While Parsonage-Turner syndrome is typically adult-onset, with stress often acting as a trigger, the presentation in children is less acknowledged.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of -Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Pathogenic variants in the and genes are associated with impairment of mitochondrial trifunctional protein. Mitochondrial trifunctional protein deficiency is a disorder of long-chain fatty acid oxidation with different clinical presentations: the neonatal-onset form expressing with severe cardiac phenotype, the infantile-onset form with intermediate hepatic phenotype with metabolic crises, and the late-onset form with mild neuromyopathic phenotype. Long-term complications in patients with the intermediate and late-onset phenotypes include peripheral neuropathy and retinopathy.

Neurophysiological Assessment in Children with Vocal Fold Paralysis: A Tertiary Center Experience.

Objective: The aim of this study is to report on experience acquired during the laryngeal electrophysiological assessment with Co-MEP and L-EMG in pediatric patients with acquired, congenital, and syndromic vocal fold paralysis (VFP), and correlate our findings with patients' characteristics, their comorbidities, and VFP etiology.

Methods: Pediatric patients with suspected or previously diagnosed unilateral or bilateral VFP underwent electrophysiological records under general anesthesia; corticobulbar motor-evoked potentials (Co-MEPs) and laryngeal electromyography (L-EMG) of thyroarytenoid (TA) and posterior cricoarytenoid (PCA) muscles were recorded.

Results: Statistical analysis revealed a statistically significant correlation between early gestational age at childbirth and TA muscle intensity (p = 0.

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date, few studies on pediatric populations have been conducted and the achievement of molecular diagnosis remains challenging.

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Background And Aims: POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but recently de novo heterozygous mutations have been described in early onset peripheral demyelinating neuropathies with or without central involvement. Here, we report the first Italian case carrying a de novo variant in POLR3B with a pure neuropathy phenotype and primary axonal involvement of the largest nerve fibers.

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Introduction: Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked gene and presenting with a variable phenotypic spectrum, ranging from severe infantile encephalopathy to milder chronic neurological disorders.Isolated peripheral neuropathy as predominant clinical presentation is uncommon.

Results: We report on a patient, now 21 years old, presenting at the age of 2 years with recurrent symmetric weakness as first symptom of a PDH deficiency.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

Aims: SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile form of motor neuron disease has been linked to SPTLC1 variants. Variants affecting the p.

On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep.

Objective: Non-Rapid Eye Movement (NREM) sleep promotes the spread and propagation of Interictal Epileptiform Discharges (IEDs), while IEDs are suppressed during REM. Recently, it has been shown that the inhibitory effect on epileptic activity is mostly exerted by the phasic REM (PREM) microstate. This study aims at assessing if this holds true even in the extreme condition of IEDs activation during sleep represented by Electrical Status Epilepticus during Sleep (ESES).

Sleep disturbances in craniopharyngioma: a challenging diagnosis.

Craniopharyngiomas are rare solid or mixed solid and cystic tumors that arise from Rathke's pouch remnants along the pituitary-hypothalamic axis, from the sella turcica to the brain third ventricle. Both the tumor and its treatment can lead to significant neurological and endocrinological complications. Due to the essential role of the hypothalamus in the complex neurophysiologic process of sleep, tumors involving the hypothalamic area may be responsible for disturbances in sleep-wake regulation with alterations in the circadian rhythm, sleep fragmentation, and increased daytime sleepiness.

Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection.

Introduction: In the last few months, some pediatric cases with neurological and neuroradiological pictures related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections have been reported, often associated with multisystem inflammatory syndrome (MIS-C). The most frequently encountered pediatric neurological complications seem to be postinfectious immune-mediated acute disseminated encephalomyelitis (ADEM)-like changes of the brain, myelitis, neural enhancement, and splenial lesions. Concomitant neurological and cardiac involvement has been reported only in MIS-C, although specific clinical details are often not fully available.

Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"?

The management of drug-resistant patients with focal epilepsy is often challenging. Surgery is recognised as a useful and effective treatment option. The identification of the epileptogenic zone relies on the integration of clinical, neurophysiological, and neuroimaging findings.

Sleep disorders in Prader-Willi syndrome, evidence from animal models and humans.

Prader-Willi Syndrome (PWS) is a complex genetic disorder with multiple cognitive, behavioral and endocrine dysfunctions. Sleep alterations and sleep disorders such as Sleep-disordered breathing and Central disorders of hypersomnolence are frequently recognized (either isolated or in comorbidity). The aim of the review is to highlight the pathophysiology and the clinical features of sleep disorders in PWS, providing the basis for early diagnosis and management.

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in Impairing the Voltage Sensitivity of Kv1.1 Channel.

The gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in have been classically associated with episodic ataxia type 1 (EA1), a movement disorder triggered by physical and emotional stress.

A novel approach to estimate trabecular bone anisotropy using a database approach.

Continuum finite element (FE) models of bones have become a standard pre-clinical tool to estimate bone strength. These models are usually based on clinical CT scans and material properties assigned are chosen as isotropic based only on the density distribution. It has been shown, however, that trabecular bone elastic behavior is best described as orthotropic.