Clinical Semiology Research Articles

Clinical semiology guide for dentofacial deformities in early childhood

Dentofacial deformities can begin in a very subtle way, which is why there is a need for a well-defined diagnosis. To ascertain whether there is a consensus among specialists regarding the importance of identifying dentofacial deformities in children before they reach six years of age; and to develop and validate a screening tool to assist general dentists so that they can identify signs of craniofacial asymmetry, thereby directing preventive and minimally invasive approaches in children aged three to six years. The guide was created and validated by 37 specialist professionals, masters and doctors. The Delphi technique was used for data analysis, along with the content validity index (CVI) and Cronbach’s alpha. Among the evaluators, 81.08 % had completed their training more than 10 years ago and 78.38% had been working as dentists for more than 10 years; 2.16 % were specialists, 32.16 % had a master's degree and 5.41 % had a doctoral degree. The agreement between the evaluators through the CVI was 100 % and the average Cronbach's alpha was 0.7571, which was considered substantial or acceptable. The clinical semiology guide for detecting dentofacial deformities in children between 3 and 6 years of age was developed and validated.

Integrating the 5-SENSE Score for Patient Selection in Vagus Nerve Stimulation for Drug-Resistant Epilepsy.

Addressing the challenge of drug-resistant epilepsy, our study offers a novel perspective by retrospectively applying the 5-SENSE score, initially created for stereoelectroencephalography (SEEG) planning, to evaluate its predictive value in patients undergoing vagus nerve stimulation (VNS) therapy. We conducted a comprehensive preoperative diagnostic work-up, including computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography-CT (PET-CT), video-electroencephalogram (video-EEG), and clinical semiology. We then stratified 76 patients into three groups - low, moderate, and high focality - based on the focality of the seizure-onset zone. Such stratification was made to check the scoring ability in predictingVNStherapy seizure reduction. Our findings demonstrate an association between the extent of focality at the seizure-onset zone and the effectiveness of VNS, which may help to define the role of the 5-SENSE score in patient selection for VNS. This high dispersion of responses in the group with high focality reinforces the idea that outcome estimation is difficult and argues for an individualized strategy in the treatment of drug-resistant epilepsy. A study at the level of the 5-SENSE score indicates the importance of detailed preoperative assessments that may better optimize selection for VNS therapy and further improve clinical outcomes.

Neurolinguistic channels: an important tool in the teaching-learning process in the Clinical Propedeutics and Medical Semiology course

Introduction: the ways in which we perceive, store, and encode information in our minds are known as neurolinguistic channels: visual, auditory, and kinesthetic. The learning style can be developed through teaching-learning strategies and one way to do this is to build on the student's neurolinguistic channel. Objective: to identify the neurolinguistic channel of students and teachers. Correlate the neurolinguistic channels of students and teachers. Correlate the neurolinguistic channels of students and teachers with the results of the test question. Method: an observational, analytical, and cross-sectional study was carried out with an intentional universe of 61 students of the 5th semester of the Medicine career in the subject Clinical Propaedeutics and Medical Semiology and 3 professors of the Faculty of Medical Sciences "Miguel Enríquez". Data analysis was performed descriptively, qualitative variables were expressed in numbers and percentage, and non-parametric chi-square statistics were performed. Results: it was observed that in cases where the student-teacher channels coincided, 51,3 % of the students obtained grades between 4 and 5 points; whereas when the channels didn't agree, 73,7 % of the students obtained a grade of 2. The comparison shows a trend towards statistical significance (Χ2=3,31; p=0,1915). Conclusions: the auditory canal predominated in the students. A tendency towards better academic results was evidenced when there is convergence between the neurolinguistic channels of the teacher and the student

Evaluation of the proposal for the teaching of emotional integration in the career of Medicine, for the improvement of professional pedagogical performance

The improvement strategy for the improvement of the professional pedagogical performance of teachers of the teaching of emotional integration in the subject Clinical Propaedeutics and Medical Semiology of the 3rd year of the Medicine career is directed by the mission: to achieve levels of preparation of the teacher to improve the professional pedagogical performance in the teaching of emotional integration; The vision of this strategy is to design self-improvement actions for teachers. Main objective: To assess the results obtained in the improvement of the professional pedagogical performance of teachers in the teaching of emotional integration in the subject. Method: A system of self-improvement activities was conceived that revealed and enhanced the functions, as well as allowed the system of relationships to function harmoniously, promoting the development and systematic evaluation of work. Periods were organized for exchanges, analyses, meetings and activities Scientific. After presenting the proposed overcoming strategy, the evaluation of 30 experts was requested, it is used in the processing Mc Nemar and chi-square. The evaluation of the instruments applied to the evaluation of teachers, through the consultation of specialists and the pre-experiment carried out, confirmed the viability of the proposed improvement strategy

Analysis of promotion of the Clinical Propedeutics subject in a Faculty of Medical Sciences

Introduction: plan E in the Medicine Career is designed so that developer learning prevails with a broad and active participation of the student in their training. As of the 2022 academic year, the Cuban students who began the Clinical Propedeutics and Medical Semiology subject did so in this new study plan. Objective: to determine the results of the promotion in the Clinical Propedeutics subject of Plan E of the Medicine career.Methods: an observational, exploratory, retrospective and cross-sectional study was carried out, based on the analysis of the promotion report of 3rd year medical students in the Clinical Propedeutics and Medical Semiology subject, at the “Miguel Enríquez” Faculty of Medical Sciences, corresponding to the course academic 2022-2023. Results: the average final grade obtained was 4.2 points. 242 evaluations were carried out, 35 % obtained a Good evaluation, 13 % were classified as Excellent. In the first partial, 74,6 % passed and in the final exam it increased to 84%. After the extraordinary exam, 48 % of the students obtained a grade of Good, with 100 % passing.Conclusions: the results show that a 100 % promotion of the students in the Clinical Propedeutics and Medical Semiology subject with the new plan E, and the quality of the grades obtained improves as the evaluative cuts are made

Is High-Frequency Activity at Seizure Onset Inhibitory? A Stereoelectroencephalographic Study of Motor Cortex Seizures.

In the era of stereoelectroencephalography (SEEG), many studies have been devoted to understanding the role of interictal high-frequency oscillations. High-frequency activity (HFA) at seizure onset has been identified as a marker of epileptogenic zone. We address the physiological significance of ictal HFAs and their relation to clinical semiology. We retrospectively identified patients with pure focal primary motor epilepsy. We selected only patients in whom SEEG electrodes were optimally placed in the motor cortex as confirmed by electrical stimulation. Based on these narrow inclusion criteria, we extensively studied 5 patients (3 males and 2 females, mean age = 22.4 years) using time-frequency analysis and time correlation with motor signs onset. A total of 157 analyzable seizures were recorded in 5 subjects. The first 2 subjects had tonic or clonic semiology with rare secondary generalization. Subject 3 had atonic onset followed by clonic hand/arm flexion. Subject 4 had clusters of tonic and atonic facial movements. Subject 5 had upper extremity tonic movements. The median frequency of the fast activity extracted from the Epileptogenic Zone Fingerprint pipeline in the first 4 subjects was 76 Hz (interquartile range = 21.9Hz). Positive motor signs did not occur concomitantly with high gamma activity developing in the motor cortex. Motor signs began at the end of HFAs. This study supports the hypothesis of an inhibitory effect of ictal HFAs. The frequency range in the gamma band was associated with the direction of the clinical output effect. Changes from inhibitory to excitatory effect occurred when discharge frequency dropped to low gamma or beta. ANN NEUROL 2024;95:1127-1137.

Improvement strategy for the improvement of the professional pedagogical performance of teachers in the teaching of emotional integration

Latin American educational systems have favored efforts aimed at improving the quality of education, and in this purpose, the variable "pedagogical professional performance of the teacher" has been identified as very influential and decisive for the achievement of a qualitative leap in school management. The fulfillment of the objective of the "E" Study Plan in force in the Cuban Medical School, aimed at an adequate doctor-patient-family-community relationship in the subject Clinical Propedeutics and Medical Semiology (PCSM), requires a constant process of updating their knowledge, skills and values. The preparation of the clinical history, highlighting the psychosocial history, allows the student to integrate the semiographic findings with the emotional, temporo-spatial events that particularize each individual. Theoretical methods allow identifying different problems related to the integration of these aspects, we propose as Objective: To design an improvement strategy for the improvement of teachers' pedagogical professional performance in the teaching of emotional integration of the subject Clinical Propedeutics and Medical Semiology, of the FCM "Miguel Enríquez". The research agreed to define: emotion and emotional integration and to design the strategy through the AELI® KINETEST protocol to incorporate in the clinical history the semiography of emotions and to complement the physical examination with the use of the muscle test.

Common Data Elements for Disorders of Consciousness: Recommendations from the Working Group on Behavioral Phenotyping.

The recent publication of practice guidelines for management of patients with disorders of consciousness (DoC) in the United States and Europe was a major step forward in improving the accuracy and consistency of terminology, diagnostic criteria, and prognostication in this population. There remains a pressing need for a more precise brain injury classification system that combines clinical semiology with neuroimaging, electrophysiologic, and other biomarker data. To address this need, the National Institute of Neurological Disorders and Stroke launched the Common Data Elements (CDEs) initiative to facilitate systematic collection of high-quality research data in studies involving patients with neurological disease. The Neurocritical Care Society's Curing Coma Campaign expanded this effort in 2018 to develop CDEs for DoC. Herein, we present CDE recommendations for behavioral phenotyping of patients with DoC. The Behavioral Phenotyping Workgroup used a preestablished, five-step process to identify and select candidate CDEs that included review of existing National Institute of Neurological Disorders and Stroke CDEs, nomination and systematic vetting of new CDEs, CDE classification, iterative review, and approval of panel recommendations and development of corresponding case review forms. We identified a slate of existing and newly proposed basic, supplemental, and exploratory CDEs that can be used for behavioral phenotyping of adult and pediatric patients with DoC. The proposed behavioral phenotyping CDEs will assist with international harmonization of DoC studies and allow for more precise characterization of study cohorts, favorably impacting observational studies and clinical trials aimed at improving outcome in this population.

The seizure severity score: a quantitative tool for comparing seizures and their response to therapy

Objective. Epilepsy is a neurological disorder characterized by recurrent seizures which vary widely in severity, from clinically silent to prolonged convulsions. Measuring severity is crucial for guiding therapy, particularly when complete control is not possible. Seizure diaries, the current standard for guiding therapy, are insensitive to the duration of events or the propagation of seizure activity across the brain. We present a quantitative seizure severity score that incorporates electroencephalography (EEG) and clinical data and demonstrate how it can guide epilepsy therapies. Approach. We collected intracranial EEG and clinical semiology data from 54 epilepsy patients who had 256 seizures during invasive, in-hospital presurgical evaluation. We applied an absolute slope algorithm to EEG recordings to identify seizing channels. From this data, we developed a seizure severity score that combines seizure duration, spread, and semiology using non-negative matrix factorization. For validation, we assessed its correlation with independent measures of epilepsy burden: seizure types, epilepsy duration, a pharmacokinetic model of medication load, and response to epilepsy surgery. We investigated the association between the seizure severity score and preictal network features. Main results. The seizure severity score augmented clinical classification by objectively delineating seizure duration and spread from recordings in available electrodes. Lower preictal medication loads were associated with higher seizure severity scores (p = 0.018, 97.5% confidence interval = [−1.242, −0.116]) and lower pre-surgical severity was associated with better surgical outcome (p = 0.042). In 85% of patients with multiple seizure types, greater preictal change from baseline was associated with higher severity. Significance. We present a quantitative measure of seizure severity that includes EEG and clinical features, validated on gold standard in-patient recordings. We provide a framework for extending our tool’s utility to ambulatory EEG devices, for linking it to seizure semiology measured by wearable sensors, and as a tool to advance data-driven epilepsy care.

Ictal EEG: Etiology and Mortality in Older Adults With Nonconvulsive Status Epilepticus.

Clinical-electroencephalogram (EEG), as well as etiological and prognostic data on subtypes of nonconvulsive status epilepticus (NCSE) are yet to be established. Objective: Evaluate the clinical semiology and EEG findings and prognostic data of older adults with NCSE. Methodology: Characterize the clinical-EEG and prognostic data in the subtypes of NCSE in older adults consecutively admitted to the emergency room of the Pontifícia Universidade Católica de Campinas (PUC-Campinas) University Hospital. Results: When evaluating 105 older adults with altered consciousness, it was possible to diagnose NCSE in 50 (47.6%) older adults, with a mean age of 72.8 ± 8.8 years. NCSE-coma occurred in 6 cases, with NCSE-without coma in 44 cases. The etiology was structural in 41(82%) cases, metabolic in 5 cases, and unknown etiology in 4 cases. Twelve cases had a history of epileptic seizures. On the EEG, epileptiform discharges (EDs > 2.5 Hz) were present in 34(68%) cases and rhythmic delta activity /lateralized periodic patterns occurred in 35(70%) cases. There was clinical improvement after the initial pharmacological treatment in 36 cases and, within 30 days, 18 cases died. The better prognosis was associated with a good response to initial pharmacological treatment (n = 14) and with EDs > 2.5 Hz on EEG (Fisher's exact test; 26 vs 8; P = .012). Conclusion: Focal NCSE with impaired consciousness was the most frequent subtype. The most frequent finding on the EEG was the recording of focal/regional seizures. A high number of cases showed initial clinical improvement, but mortality was high. The favorable prognosis was associated with initial clinical improvement and the presence of EDs > 2.5 Hz. There was no relationship between EEG patterns and the etiology and subtypes of NCSE in older adults.

Diagnosis and management of METS-Stanmore Morse taper failure

We describe clinical semiology in 6 cases of METS-Stanmore distal femoral Morse taper impaction failure: from obvious forms with intraprosthetic dislocation to chronic forms with less obvious symptoms: instability, piston sensation, rotational disorder in gait. The diagnostic procedure in chronic forms is described, notably with dynamic examination under fluoroscopy. Reduction and re-impaction by external maneuver can be attempted; in case of failure or of any suspicion of taper disassembly, the 2 modular implant components have to be replaced. Finally, we provide a review of the literature on this rare but serious complication. Level of evidenceIV.

Multisite thalamic recordings to characterize seizure propagation in the human brain.

Neuromodulation of the anterior nuclei of the thalamus (ANT) has shown to be efficacious in a subset of patients with refractory focal epilepsy. One important uncertainty is to what extent thalamic subregions other than the ANT could be recruited more prominently in the propagation of focal onset seizures. We designed the current study to simultaneously monitor the engagement of the ANT, mediodorsal (MD) and pulvinar (PUL) nuclei during seizures in patients who could be candidates for thalamic neuromodulation. We studied 11 patients with clinical manifestations of presumed temporal lobe epilepsy (TLE) undergoing invasive stereo-encephalography (sEEG) monitoring to confirm the source of their seizures. We extended cortical electrodes to reach the ANT, MD and PUL nuclei of the thalamus. More than one thalamic subdivision was simultaneously interrogated in nine patients. We recorded seizures with implanted electrodes across various regions of the brain and documented seizure onset zones (SOZ) in each recorded seizure. We visually identified the first thalamic subregion to be involved in seizure propagation. Additionally, in eight patients, we applied repeated single pulse electrical stimulation in each SOZ and recorded the time and prominence of evoked responses across the implanted thalamic regions. Our approach for multisite thalamic sampling was safe and caused no adverse events. Intracranial EEG recordings confirmed SOZ in medial temporal lobe, insula, orbitofrontal and temporal neocortical sites, highlighting the importance of invasive monitoring for accurate localization of SOZs. In all patients, seizures with the same propagation network and originating from the same SOZ involved the same thalamic subregion, with a stereotyped thalamic EEG signature. Qualitative visual reviews of ictal EEGs were largely consistent with the quantitative analysis of the corticothalamic evoked potentials, and both documented that thalamic nuclei other than ANT could have the earliest participation in seizure propagation. Specifically, pulvinar nuclei were involved earlier and more prominently than ANT in more than half of the patients. However, which specific thalamic subregion first demonstrated ictal activity could not be reliably predicted based on clinical semiology or lobar localization of SOZs. Our findings document the feasibility and safety of bilateral multisite sampling from the human thalamus. This may allow more personalized thalamic targets to be identified for neuromodulation. Future studies are needed to determine if a personalized thalamic neuromodulation leads to greater improvements in clinical outcome.

Clinical Semiology and Comparative Analysis of Different Classification Systems of Psychogenic Nonepileptic Seizures

Abstract Objective Only a few studies have compared the different classification systems of psychogenic nonepileptic seizures (PNESs). A universally acceptable classification system for PNES will aid in the early diagnosis and may lead to better standardization for future studies. This study aimed to describe the clinical semiology and provide comparative analysis of PNES classification systems described by Hubsch et al, Wadwekar et al, Dhiman et al, and Asadi-Pooya. Methods Prospectively, patients provisionally diagnosed clinically as PNES were confirmed on video electroencephalography and their semiology was classified according to the classification systems mentioned earlier. Patients were additionally evaluated for coexisting anxiety or depression using Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria and its severity assessed using Hamilton's depression/anxiety rating scales. Results A total of 104 PNES patients were included in the study. Mean age at presentation was 24.5 ± 10.4 years with females as the predominant proportion (76.9%). Whole body flaccidity was the commonest clinical presentation of PNES seen in 60.58% cases. All PNES cases could be classified using the Asadi-Pooya's classification, while 8.7, 47.1, and 53.8% PNES events remained unclassified, respectively, using the classification system as described by Dhiman et al, Wadwekar et al, and Hubsch et al; 33(31.73%) PNES patients had depression and 8 (7.7%) had generalized anxiety disorder in our study. Conclusion Nonmotor manifestations were the most frequent semiology in our cohort. Of the PNES classification systems studied, Asadi-Pooya's classification was easier to apply and could classify all the patients in the study.

Doping with testosterone and androgenic/anabolic steroids: Impact on health, screening tools and medical care

Doping in elite or amateur athletes with testosterone, androgens and anabolic steroids (A/AS) has as a main objective to develop muscle strength and mass to improve sports performance. Massive doping is a worldwide public health issue insufficiently known by physicians in general and by endocrinologists in particular. Yet, its prevalence, probably underestimated, would be between 1 and 5% at the international level. Numerous deleterious effects associated with A/AS abuse have been identified: inhibition of the gonadotropic axis responsible for hypogonadotropic hypogonadism and infertility in men, and masculinization (defeminization), hirsutism and anovulation in women. Metabolic (very low HDL cholesterol), hematological (polycythemia), psychiatric, cardiovascular and hepatic complications have also been documented. As a result, anti-doping agencies have developed increasingly effective techniques for detecting A/AS, both to identify and punish cheating athletes and to protect the health of the greatest number of them. These techniques use a combination of liquid and gas chromatographic methods coupled with mass spectrometry, known respectively by the acronyms LC-MS and GC-MS. These detection tools have a remarkable sensitivity and specificity to detect natural steroids and synthetic A/AS of known structure. Furthermore, by distinguishing isotopes, it is also possible to distinguish natural endogenous hormones, testosterone and androgenic precursors from those administered for doping purposes. For elite athletes, a “biological passport” has also been introduced. It consists of monitoring the evolution of steroids and their metabolites, as well as other biological parameters in the blood and urine over time after having established a basal state athlete signature, established, a priori, without doping. Better training of health professionals, general practitioners and specialists should be a priority for academic institutions and medical societies. It would provide them with better knowledge of the populations at risk and the clinical and biological semiology of male and female doping, including withdrawal syndrome associated with anxiety and depression following cessation of chronic A/AS use. The ultimate goal is to provide these physicians with the keys to treating these patients while combining medical rigor and empathy. These points will be addressed in this short manuscript.

Diagnosis of Epilepsy: Clinical Definition, Seizure Semiology, and Differentiation from Acute Symptomatic Seizure(Provoked Seizure)

Recently, a practical clinical definition has been proposed by the International League Against Epilepsy(ILAE). Management of an unprovoked first seizure in adults has also been reported with risk factors of recurrence relevant to epilepsy diagnosis by the American Academy of Neurology. The term "unprovoked" implies the absence of a temporary or reversible factor lowering the threshold and producing a seizure at that point in time. A seizure immediately after a stroke or head injury would exemplify a provoked seizure, as called acute symptomatic(or early)seizure, that would not lead to a diagnosis of epilepsy. The underlying mechanisms that cause the early seizure are considered to be different from those of epileptogenesis associated with recurrent epileptic seizures. Psychogenic non-epileptic seizure(PNES)or syncope resembles epileptic seizures and are often misdiagnosed. Some clinical features can help distinguish PNES or syncope from epileptic seizure. Clinicians should be familiarized with seizure semiology presumable to epilepsy. The incidence of epilepsy increases steadily after 50 years of age. As in younger people, the diagnosis of epilepsy is a clinical decision; however, in older people this can be more challenging. Many disorders, common in older people may confuse epilepsy seizures which should be differentiated by appropriate investigations.

Massive brown tumors of the jaw: A case report

Brown tumors are non-neoplastic bone lesions caused by an abnormal remodeling of the bone that may occur with primary or secondary hyperparathyroidism. Their radiological aspect: lytic and aggressive can easily be misdiagnosed for a malignant origin hence the importance of knowing that diagnosis is to be considered through both clinical context and radiological semiology, which will be detailed via this case of a 32-year-old female patient with an end-stage kidney disease, admitted for facial disfiguration and palpable masses corresponding to brown tumors affecting the maxilla and the mandibular bone.

Clinical seizure semiology is subtle and identification of seizures by parents is unreliable in infants with tuberous sclerosis complex.

The objectives of this study were to assess the accuracy of parental seizure detection in infants with antenatally diagnosed tuberous sclerosis complex (TSC), and to document the total seizure burden (clinical and subclinical) in those patients who met criteria for prolonged electroencephalography (EEG) recording. Consecutive infants at a single institution with antenatally diagnosed TSC who met criteria for prolonged video-EEG (vEEG) were recruited to this study. The vEEG data were reviewed and when a seizure was identified on EEG, the video and audio recording was assessed for evidence of clinical seizure and, if present, whether there was evidence of parent seizure identification. Nine infants were enrolled, for whom 674 focal seizures were identified in eight of nine patients across 24 prolonged vEEG recordings, with vEEG total duration of 634 h 49 min (average seizure frequency of 1 focal seizure/h). Only 220 of 674 (32.6%) were clinical seizures, 395 of 674 (58.6%) were subclinical seizures, and 59 of 674 seizures could not be classified. Only 63 of 220 clinical seizures (28.6%) were identified by parents, with 157 of 220 (71.4%) not identified. Thirty clusters of epileptic spasms were detected in one patient. At least one clinical epileptic spasm occurred in 2 of 30 clusters (6.7%), 24 of 30 clusters of epileptic spasms (80%) were electrographic only, and classification was uncertain for 4 of 30 clusters (13.3%). No clinical epileptic spasms were detected by parents. Clinical seizure frequency was significantly underestimated by parents for all patients. This study demonstrates that in infants with TSC who met criteria for prolonged vEEG, (1) parents significantly under recognize total clinical seizure count, (2) parents fail to identify epileptic spasms, and (3) seizure frequency is high. This highlights that epilepsy treatment decisions should not be based solely on parental clinical seizure identification. Prolonged vEEG monitoring may have an important role in the routine epilepsy care of infants with TSC, as demonstrating undetected high clinical seizure frequency may allow improved epilepsy management decisions.

"Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patterns

We aimed to clarify the pathophysiology of epilepsy involving seizures with apparently generalized onset, progressing to focal ictal rhythm through stereotactic EEG (SEEG) implantation, recording, stimulation and high-frequency oscillation (HFO) analysis. We identified two patients with seizures with bilateral electrographic onset evolving to focal ictal rhythm, who underwent SEEG implantation. Patients had pre-surgical epilepsy work-up, including prolonged video scalp EEG, brain MRI, PET, ictal/interictal SPECT, MEG, and EEG-fMRI prior to SEEG implantation. Both patients had childhood-onset seizures involving behavioural arrest and left versive head and eye deviation, evolving to bilateral tonic-clonic convulsions. Seizures were electrographically preceded by diffuse, bilateral 3-Hz activity resembling absence seizures. Both had suspected focal lesions based on neuroimaging, including 3T MRI and voxel-based post-processing in one patient. Electrode stimulation did not elicit any habitual electroclinical seizures. HFO analysis showed bilateral focal regions with high fast-ripple rates. “Generalized-to-focal” seizures may occur due to a diffuse, bilateral epileptic network, however, both patients showed ictal evolution from a generalized pattern to a single dominant focus which may explain why the focal aspect of their seizures had a consistent clinical semiology. Patients such as these may have a unique form of generalized epilepsy, but focal/multifocal cerebral abnormalities are also a possibility.

CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.

Background: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. PurposeThis study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants in the CUL4B gene or brain MRI abnormalities may influence seizure onset and epilepsy course. MethodsWith this in mind, we characterised the epileptic phenotype of a 17-year-old adolescent harbouring a CUL4B novel variant and performed a systematic literature review of CUL4B-associated seizures, analysing mutation types and neuroimaging features as epilepsy predictors. ResultsOur case observation indicates that CUL4B-associated epilepsy may also be drug-resistant and persist beyond infancy. Literature analysis shows that 43% of CUL4B patients develop seizures, with no statistically significant differences in epilepsy development according to mutation type and neuroimaging features. ConclusionOur study extends knowledge of CUL4B-associated epilepsy, offering new insights into disease progression.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

β propeller protein-associated neurodegeneration (BPAN) is the most common neurodegeneration with brain iron accumulation disorder. Typical radiologic findings are T2 hypointensity in the substantia nigra and globus pallidus, as well as a T1 halolike substantia nigra hyperintense signal surrounding a hypointense central area. However, these findings are often subtle or absent on initial scans, risking diagnostic delay. In this study, we sought to investigate radiologic findings that could aid in the early diagnosis of BPAN. A retrospective cohort study was performed in a national referral center, including all pediatric patients with confirmed pathogenic WDR45 mutations and consistent clinical semiology. MR imaging findings were independently reported by 2 pediatric neuroradiologists. Fifteen patients were included in the study, and 27 scans were available for review. The initial neuroimaging study was undertaken at a mean age of 3.2 years. Iron deposition was uncommon in patients younger than 4 years of age. Neuroradiologic features from very early on included dentate, globus pallidus, and substantia nigra swelling, as well as a thin corpus callosum and small pontine volume. Optic nerve thinning was also present in all patients. Our study highlights the key early MR imaging features of BPAN. Iron deposition in the globus pallidus and substantia nigra is not common in children younger than 4 years of age; clinicians should not be deterred from suspecting BPAN in the presence of the findings described in this study and the appropriate clinical context.