Case report: A relevant misdiagnosis: Photosensitive epilepsy mimicking a blinking tic

Blinking in children is most frequently a functional and transient symptom. Nonetheless, sometimes it is the first clinical manifestation of a neurological disorder. The differential diagnosis between voluntary actions, tics and other neurological disorders among which seizures may be challenging and misdiagnosis is common. A 6-year-old girl in good health was admitted for a recent history of bilateral eye blinking. Blinking did not interfere with the girl's activities. The patients reported that blinking seemed to be triggered by sunlight exposure and that girl sometimes seemed to be attracted by the sunlight. Ophthalmological diseases had been already excluded. The girl was addressed to our hospital for neurological consultation, as tic disease was considered the most probable hypothesis. Neurological examination was negative. In the field of differential diagnosis of photosensitive abnormal eyelid movements, the hypothesis of seizures was explored and further investigated with a video-EEG recording with light stimulation. This exam demonstrated a photoparoxysmal response (PPR) to intermittent photic stimulation with appearance on EEG of bilateral spike and polyspike waves associated with eyelid jerks. This girl suffers from generalized epilepsy with photosensitivity. Photosensitivity is a common feature of many epilepsy syndromes, mainly occurring in children and adolescents. To control the seizures, it is essential to avoid the triggering stimulus, by wearing specific glasses. Additional antiseizures treatment is often necessary, at first with valproate and levetiracetam, and ethosuximide, lamotrigine, and benzodiazepines as the second choice. Overlapping phenomenology of seizures and movement disorders is well known in paediatric clinical practice. Moreover, epilepsy and movement disorder may coexist, mainly in children. Seizures with semeiology limited to eye motor manifestations may mimic functional blinking, tics, and other motor events frequently observed in childhood. Differentiating seizures from other non-epileptic paroxysmal movements may be challenging and specialist evaluation is needed for proper treatment and prognostic counselling

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development, neuritogenesis, synaptic transmission and plasticity. De novo variants in this gene have been identified as the cause of the Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) characterized by seizures and variably impaired intellectual development. More than sixty mutations have been described so far. However, data clarifying their functional impact and the possible pathomechanism are still scarce. Recently, a subset of CSNK2B missense variants affecting the Asp32 in the KEN box-like domain were proposed as the cause of a new intellectual disability-craniodigital syndrome (IDCS). In this study, we combined predictive functional and structural analysis and in vitro experiments to investigate the effect of two CSNK2B mutations, p.Leu39Arg and p.Met132LeufsTer110, identified by WES in two children with POBINDS. Our data prove that loss of the CK2beta protein, due to the instability of mutant CSNK2B mRNA and protein, resulting in a reduced amount of CK2 complex and affecting its kinase activity, may underlie the POBINDS phenotype. In addition, the deep reverse phenotyping of the patient carrying p.Leu39Arg, with an analysis of the available literature for individuals with either POBINDS or IDCS and a mutation in the KEN box-like motif, might suggest the existence of a continuous spectrum of CSNK2B-associated phenotypes rather than a sharp distinction between them

Management of acute diverticulitis with pericolic free gas (ADIFAS). an international multicenter observational study

Background: There are no specific recommendations regarding the optimal management of this group of patients. The World Society of Emergency Surgery suggested a nonoperative strategy with antibiotic therapy, but this was a weak recommendation. This study aims to identify the optimal management of patients with acute diverticulitis (AD) presenting with pericolic free air with or without pericolic fluid. Methods: A multicenter, prospective, international study of patients diagnosed with AD and pericolic-free air with or without pericolic free fluid at a computed tomography (CT) scan between May 2020 and June 2021 was included. Patients were excluded if they had intra-abdominal distant free air, an abscess, generalized peritonitis, or less than a 1-year follow-up. The primary outcome was the rate of failure of nonoperative management within the index admission. Secondary outcomes included the rate of failure of nonoperative management within the first year and risk factors for failure. Results: A total of 810 patients were recruited across 69 European and South American centers; 744 patients (92%) were treated nonoperatively, and 66 (8%) underwent immediate surgery. Baseline characteristics were similar between groups. Hinchey II-IV on diagnostic imaging was the only independent risk factor for surgical intervention during index admission (odds ratios: 12.5, 95% CI: 2.4-64, P =0.003). Among patients treated nonoperatively, at index admission, 697 (94%) patients were discharged without any complications, 35 (4.7%) required emergency surgery, and 12 (1.6%) percutaneous drainage. Free pericolic fluid on CT scan was associated with a higher risk of failure of nonoperative management (odds ratios: 4.9, 95% CI: 1.2-19.9, P =0.023), with 88% of success compared to 96% without free fluid ( P <0.001). The rate of treatment failure with nonoperative management during the first year of follow-up was 16.5%. Conclusion: Patients with AD presenting with pericolic free gas can be successfully managed nonoperatively in the vast majority of cases. Patients with both free pericolic gas and free pericolic fluid on a CT scan are at a higher risk of failing nonoperative management and require closer observation

Colorectal Cancer Stage at Diagnosis Before vs During the COVID-19 Pandemic in Italy

IMPORTANCE Delays in screening programs and the reluctance of patients to seek medical attention because of the outbreak of SARS-CoV-2 could be associated with the risk of more advanced colorectal cancers at diagnosis. OBJECTIVE To evaluate whether the SARS-CoV-2 pandemic was associated with more advanced oncologic stage and change in clinical presentation for patients with colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS This retrospective, multicenter cohort study included all 17 938 adult patients who underwent surgery for colorectal cancer from March 1, 2020, to December 31, 2021 (pandemic period), and from January 1, 2018, to February 29, 2020 (prepandemic period), in 81 participating centers in Italy, including tertiary centers and community hospitals. Follow-up was 30 days from surgery. EXPOSURES Any type of surgical procedure for colorectal cancer, including explorative surgery, palliative procedures, and atypical or segmental resections. MAIN OUTCOMES AND MEASURES The primary outcome was advanced stage of colorectal cancer at diagnosis. Secondary outcomes were distant metastasis, T4 stage, aggressive biology (defined as cancer with at least 1 of the following characteristics: signet ring cells, mucinous tumor, budding, lymphovascular invasion, perineural invasion, and lymphangitis), stenotic lesion, emergency surgery, and palliative surgery. The independent association between the pandemic period and the outcomes was assessed using multivariate random-effects logistic regression, with hospital as the cluster variable. RESULTS A total of 17 938 patients (10 007 men [55.8%]; mean [SD] age, 70.6 [12.2] years) underwent surgery for colorectal cancer: 7796 (43.5%) during the pandemic period and 10 142 (56.5%) during the prepandemic period. Logistic regression indicated that the pandemic period was significantly associated with an increased rate of advanced-stage colorectal cancer (odds ratio [OR], 1.07; 95%CI, 1.01-1.13; P = .03), aggressive biology (OR, 1.32; 95%CI, 1.15-1.53; P < .001), and stenotic lesions (OR, 1.15; 95%CI, 1.01-1.31; P = .03). CONCLUSIONS AND RELEVANCE This cohort study suggests a significant association between the SARS-CoV-2 pandemic and the risk of a more advanced oncologic stage at diagnosis among patients undergoing surgery for colorectal cancer and might indicate a potential reduction of survival for these patients

Paroxysmal awakenings and seizures in congenital hyperinsulinism: a late diagnosis

We describe the case of a 16-month-old girl with congenital hyperinsulinism diagnosed at the age of 11 months, after a history of a single convulsive seizure at 4 months of age, followed by frequent unexplained paroxysmal events related to sleep. The diagnosis was made when a second convulsive seizure occurred and a severe hypoglycemia was detected. Since the treatment with diazoxide was started, both seizures and sleep disorder disappeared. This case support the recommendations of the literature to consider a congenital hyperinsulinism even in cases of infantile convulsions apparently \u201cbenign\u201d and/or in the evaluation of atypical motor or behavioral paroxysmal manifestations of uncertain origin; in this field, the correlation of hypoglycemia with sleep is a current topic of discussion and remains to be clarified

A Brain and Heart Connection: X-Linked Periventricular Heterotopia

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A Big-Data-Analytics Framework for Supporting Classification of ADHD and Healthy Children via Principal Component Analysis of EEG Sleep Spindles Power Spectra

Attention Deficit Hyperactivity Disorder (ADHD) diagnosis is essentially clinical and research of biomarkers represents a current great challenge. The interest in sleep spindle has been increased after the description of their role in cognitive functions and of their involvement in neurodevelopmental disorders. We aimed to investigate this peculiar aspect of sleep through EEG spectral analysis of three different spindle epochs (ante, spindle, post), in order to provide more and detailed information on sleep brain functioning in ADHD. These features can be analyzed via well-known big data analytics methods. In our case, they were evaluated by using classification methods to support ADHD diagnosis. We combined ADHD\u2019s related PSD features (i.e. theta, beta and sigma bands) with principal component analysis (PCA) for data dimensional reduction, and Linear Supported Vector Machine (Linear-SVM) as classification algorithm. In all bands and epochs, power values in Control group were higher than in ADHD children, although not statistically significant in all cases. Significant differences between ADHD and Control group were not detected for spindle epoch, while for ante and post epochs spectral power differed significantly in theta, beta and sigma bands. Results highlighted the possibility of using our new approach as a possible hallmark for ADHD. Indeed the analysis of PSD parameters combined with PCA and Linear-SVM classification resulted in a highly (94.1%) accurate discrimination between the two groups. The novelty of the approach is PSD analysis of different sleep spindles epochs combined with principal component analysis and Linear Supported Vector Machine classification. This study demonstrated the importance of analyzing sleep microstructures in ADHD. Encouraging results supports the potentiality of using EEG measures with specific methodologies we applied and should be confirmed in a large clinical study

Power Spectral Density Analysis in Spindles Epochs in Healthy Children

Sleep spindles are important components of the N-REM stage-2 in the sleep electroencephalogram (EEG). They are oscillatory EEG activities of fusiform morphology in the range of 10\u201316 Hz [1], and a duration between 0.5 and 3 s. Spindles have been associated with cognitive skills and sleep-dependent memory consolidation. The aim of this study is to assess differences in the before (\u201cpre\u201d), during (\u201cdur\u201d) and after (\u201cpost\u201d) spindle epochs by means of main power spectral bands delta (2\u20134 Hz), theta (4\u20138 Hz), alpha (8\u201312 Hz), beta (12\u201330 Hz), gamma (30\u201344 Hz), total (2\u201344 Hz) and sigma bands (12\u201316 Hz), calculated by the Welch periodogram, and by Fractal dimension (FD). The analysis was carried out on 7 healthy children (mean age = 8.90 \ub1 1.34 years) deprived of sleep on the day of the acquisition to enhance the deep sleep during the recording. For each EEG record (standard 10\u201320, 19 electrodes, sampling rate 512 Hz), two neurophysiologists labeled the start and the end points of the three sleep epochs. The results showed statistical differences between \u201cdur\u201d and both \u201cpre\u201d and \u201cpost\u201d epochs in almost all channels (except O1 and O2) for all bands, except gamma. Furthermore, the values of FD were significantly different between \u201cdur\u201d and both \u201cpre\u201d and \u201cpost\u201d epochs, for all channels. The FD values in \u201cdur\u201d epochs were smaller than in both \u201cpre\u201d and \u201cpost\u201d ones, showing a lower EEG complexity during spindles, compared with the \u201cpre\u201d and \u201cpost\u201d epochs. FD values in \u201cpost\u201d epochs were found similar to those in \u201cpre\u201d periods. These differences could be useful to comprehend the spindles changes during sleep time. Moreover, these data could help on understanding the system generator of the spindles

STUDIO DELLA CONNETTIVITA' EEG DEI FUSI DEL SONNO IN ALCUNI SOGGETTI CON DISTURBO DA DEFICIT DI ATTENZIONE E IPERATTIVITA' (ADHD)

Introduzione: il sonno \ue8 considerato un utile ambito di studio rispetto alla correlazione tra funzioni cognitive e organizzazione della rete neuronale. L'attivit\ue0 dei fusi viene correlata ad alcune funzioni cognitive e recentemente anche allo sviluppo emotivo. Obiettivo: Individuare possibili patterns di connettivit\ue0 EEG nel sonno di soggetti con ADHD. Conclusioni: I dati preliminari dello studio suggeriscono la possibile presenza di patterns di connettivit\ue0 del sonno riproducibili all'interno dello stesso soggetto