Facial dermatoses and use of protective mask during Covid-19 pandemic: A clinical and psychological evaluation in patients affected by moderate-severe atopic dermatitis under treatment with dupilumab

During the SARS-COV-2 pandemic, using face masks became mandatory in many countries. Although evidence suggests that masks can exacerbate several inflammatory skin diseases, few studies focus on their real impact on eczema localized to the face in atopic dermatitis (AD) patients. The aim of this study is to evaluate facial eczema prevalence during pandemic and its psychological impact in AD patients pre-assessed for systemic treatment and/or in therapy with dupilumab. This study includes 71 patients affected by moderate-severe AD, treated with dupilumab at SCDU of Dermatology in Novara, Italy. We calculated the number of subjects with facial involvement in pre- and post-pandemic periods and the related localization trend. We evaluated, in the two groups, clinical and psychological indicators recorded at each visit and the score modifications during the observational period. No statistically significant differences were observed in facial eczema prevalence, between pre- and post-pandemic periods (p = 0.7618) and in facial eczema remission among the two groups (p = 0.1903). In post-pandemic period, psychological scores were significantly lower (DLQI and HADS respectively with p < 0.0001 and p = 0.0025) and the reduction in EASI score during observational period was significantly greater (p = 0.0001). Our analysis revealed a potential protective effect of masks on face eczema, suggesting that they could enhance dupilumab efficacy. Face masks, covering sensitive areas, can positively contribute to mental distress in patients with facial eczema, and being associated with a lower allergic diseases incidence may sustain dupilumab in reducing AD severity

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in SPTBN2 have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous SPTBN2 missense variants have been identified in a few patients with an early-onset ataxic phenotype. We report five patients with non-progressive congenital ataxia and psychomotor delay, 4/5 harboring novel heterozygous missense variants in SPTBN2 and one patient with compound heterozygous SPTBN2 variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next generation sequencing (NGS) for congenital or early-onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of SPTBN2 together with CACNA1A and ITPR1, are a frequent cause of early-onset/congenital non-progressive ataxia and that their screening should be implemented in this subgroup of disorders

Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries

Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis

Tuberous sclerosis is associated with epilepsy in up to 85% of cases, and in 2/3, the onset is within the first year of life. An early antiepileptic treatment is crucial to minimize the consequences of epilepsy on cognition and behavior. We present a case report of a child with tuberous sclerosis who presented with infantile spasms at the age of 6 months, immediately treated with vigabatrin. Because of the presence of a subependymal giant cell astrocytoma, he also received everolimus since 18 months of age. We might wonder if an earlier treatment could have produced a better outcome; in fact, despite a targeted combined treatment, he continues to suffer from sporadic focal motor seizures, and at the age of 40 months, he presents severe developmental delay with autism-like behavior

Acute Movement Disorders in Childhood

Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology. The recognition of the underlying disorder is crucial since many causes are treatable. In this review, we summarize common and uncommon causes of acute-onset movement disorders, focusing on clinical presentation and appropriate diagnostic investigations. Both acquired (immune-mediated, infectious, vascular, toxic, metabolic) and genetic disorders causing acute MDs are reviewed, in order to provide a useful clinician’s guide to this expanding field of pediatric neurology

North Italy: Welcome to the Tropics!

We describe a case of cutaneous Larva Migrans in an 8-year-old Caucasian girl. The lesion appeared ten days after a bath in the river in a valley in the north-east of Piedmont. The patient was successfully treated with Albendazole 400 mg daily for 5 days. Autochthonous cases are rare, particularly in northern Italy. Probably the high temperatures and the high degree of humidity favored by the climate changes to which Europe is subjected are favorable to the development of larvae. The diagnosis of cutaneous Larva Migrans should, therefore, be considered also in individuals who have not traveled in geographic areas at risk for the climate