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Abstract Background and aims Sickle cell disease (SCD) is associated with a high burden of cerebrovascular complications detectable on brain MRI, including silent infarction and vasculopathy. Hematopoietic stem cell transplantation (HSCT) is a curative treatment for SCD, yet its effect on neuro-radiological abnormalities remains unclear. Methods We performed a matched pre– and post-HSCT MRI analysis in patients with SCD. Binary MRI variables were compared using McNemar’s test, and ordinal variables were analyzed with Wilcoxon signed-rank tests. Exact p-values were reported when appropriate. Evaluated MRI findings included cortical and subcortical infarcts, lacunes, moyamoya angiopathy, aneurysms, vasculopathy, cerebral atrophy, cerebral microbleeds (CMB), diffusion-weighted imaging lesions, and white matter disease severity. Results A total of 134 matched MRI pairs were analyzed. No statistically significant differences were observed in binary MRI findings following HSCT after correction using exact p-values. The prevalence of cortical infarcts increased modestly from 20.3% to 24.1% (exact p = 0.0625), while subcortical infarcts increased from 34.3% to 36.6% (exact p = 0.25). Minimal, non-significant changes were observed for lacunes, moyamoya angiopathy, atrophy, and CMB. The prevalence of aneurysms and vasculopathy remained unchanged. Ordinal analyses demonstrated no significant pre- to post-transplant differences in CMB number or size, lesion distribution, diffusion-weighted imaging abnormalities, or Fazekas scores for periventricular and deep white matter disease (all exact p > 0.05). In conclusion, HSCT in patients with SCD was associated with stability of MRI-detected cerebrovascular and structural brain abnormalities, suggesting a potential role in preventing progression of neuro-radiological disease. Conflict of interest Hussain BinAmir, nothing to disclose.

Abstract Background and aims Ischemic stroke in young adults is heterogeneous with distinct etiologies and long-term consequences. In Saudi Arabia, where the population is predominantly young, data on stroke mechanisms in this age group are limited. Identifying age- and sex-specific patterns is essential to guide diagnostic evaluation and secondary prevention. Methods We conducted a retrospective cohort study at King Faisal Specialist Hospital and Research Centre, Riyadh, including patients aged 18–55 years with confirmed ischemic stroke between January 2010 and May 2024. Demographic data, vascular risk factors, clinical characteristics, imaging, and laboratory findings were collected. Stroke etiology was classified using standard criteria, with comparisons by age (<35 vs. ≥35 years) and sex. Results A total of 366 patients were included; 68.3% were male. Mean age was 42.4 ± 8.9 years, with females presenting younger than males (39.5 vs. 43.8 years; p < 0.001). Traditional vascular risk factors were significantly more prevalent in patients aged ≥35 years. Large artery atherosclerosis (34.2%) and cardioembolism (31.7%) were the most common etiologies, followed by small vessel disease (10.9%). Other determined causes included pregnancy-related stroke, autoimmune disease, hyperhomocysteinemia, Sneddon syndrome, and HIV. Cardioembolic mechanisms varied by age and sex. Hypercoagulable states were identified in 7.9% of patients, with genetic thrombophilia more frequent in younger individuals. Conclusions Young adults with ischemic stroke in Saudi Arabia exhibit distinct age and sex-related etiologic patterns, with a substantial burden of atherosclerotic and cardioembolic disease. Selective use of thrombophilia and genetic testing may enhance diagnostic yield and inform tailored prevention strategies. Conflict of interest Mohammed Alkhudhair: nothing to disclose

Abstract Background and aims Ischemic stroke incidence is increasing among younger populations, with mechanical thrombectomy emerging as a crucial intervention for large vessel occlusions. This study examined the sociodemographic factors, clinical outcomes, and recovery trajectories in young patients to optimize and improve treatment protocols and strategies for this vulnerable demographic. Methods This observational study included young patients aged 18–55 years with ischemic stroke due to large vessel occlusion who underwent mechanical thrombectomy (MT) at a comprehensive stroke center in a tertiary hospital in Saudi Arabia. Data on demographics, clinical presentation, treatment protocols, and outcomes were collected and analyzed using IBM SPSS 29.0.0 Results Our study included 181 young patients with ischemic stroke (mean ± standard deviation age: 43.8 ± 10.0 years) who underwent MT. The most common stroke etiologies were large artery atherosclerosis (38.1%) and cardioembolism (27.6%). Revascularization success, defined as a modified Thrombolysis in Cerebral Infarction (mTICI) of 2b–3, was achieved in 92.8% of cases, with mTICI 3 (38.7%) being the most frequent outcome. Good functional outcomes, defined as a modified Rankin Scale score of 0–2 at 90 days, were observed in 62.4% of patients. Poor outcomes were significantly associated with higher low-density lipoprotein (p = 0.035), higher random blood sugar (p = 0.021), and elevated systolic blood pressure (p = 0.046). Recurrent stroke was a strong predictor of poor outcomes (p = 0.013). Conclusions Young Large Vessel Occlusion stroke outcomes after MT were influenced by sociodemographics, risk profiles, and clinical factors; early risk-factor management may optimize treatment strategies and outcomes. Conflict of interest Adi A. Aldubaiyan: nothing to disclose, Abdulmalik Alshoshan: nothing to disclose, Mohammed S. Alqahtani: nothing to disclose, Abdulrahman Alolyyan: nothing to disclose, Mohammed Alqurishi: nothing to disclose, Abdulrahman Alreshaid: nothing to disclose, Mohammed Alzawahmah: nothing to disclose, ABDELLAH DOUIRI: nothing to disclose, Anas Alrohimi: nothing to disclose, Ammar Alkawi: nothing to disclose, Fahad Alajlan: nothing to disclose, Ashfaq Shuaib: nothing to disclose, Adel Alhazzani: nothing to disclose

Posterior reversible encephalopathy syndrome (PRES) is a serious neurological syndrome that may develop following immunosuppressive therapy for stem cell transplantation (SCT). We report 8 patients with sickle cell disease (SCD) who developed PRES, which is likely to be related to immunosuppression. This is retrospective cohort analysis of the SCD registry at the King Faisal Specialist Hospital and Research Center (KFSHRC) in Riyadh, Saudi Arabia. Inclusion criteria included all adults SCD patients who underwent SCT from 2011 until 2022. We explored all cases of PRES in patients with SCT. PRES was diagnosed with MRI imaging showing reversible vasogenic cerebral edema associated with neurological symptoms including severe headache, seizures, encephalopathy, delirium, and visual disturbances. During ten years follow-up (2011-2022) we found 8 patients with PRES (age range between 14 to 37 years at diagnosis) PRES occurred 8 to 124 days following SCT in 7 cases and one patient developed PRES 8 months prior to SCT. All patients were on immunosuppressive medications, including tacrolimus, cyclosporine, sirolimus and or mycophenolate mofetil. Headache, seizures, visual hallucinations, confusion, and drowsiness were the most common presenting symptoms. MRI showed abnormalities in the occipital, parietal and frontal lobes in most cases. Recovery was complete in all patients and no recurrences were noted. Two patients had graft versus host disease (GVHD). We compared risk factors for PRES among the 8 cases and 136 SCT in SCD patients who did not develop PRES. There was a significant association between PRES and imaging abnormalities, including previous bi-hemispheric infarctions (  = 0.001), and cerebral microbleeds (CBMs). PRES was strongly associated with presence (  = 0.006), size (  = 0.016) and number (  = 0.005) of CMBs. PRES can develop days to weeks following SCT in patients with SCD, and is associated with immunosuppressive therapy, previous bi-hemispheric infarctions and CMB. Prompt recognition and intervention leads to good recovery.

Background Clinical exome and genome sequencing has transformed the diagnostic workup of patients with genetic disorders. The extensive body of evidence supporting the application of this clinical genomics approach in pediatric patients stands in stark contrast to the relative paucity of evidence for its use in the adult population. Here, we describe the largest cohort to date of adult patients who underwent clinical exome and genome sequencing for suspected genetic diagnoses. Methods A total of 2763 adult patients (2529 families) from all regions of Saudi Arabia are included in this cohort (2202 exomes, and 561 genomes). Results The diagnostic rate is 38.9% spanning 535 Mendelian genes and revealing clinical diagnostic errors in 38% of patients with positive reports. Structured feedback using C-GUIDE demonstrates clinical utility in 90% of positive cases. Consistent with the highly consanguineous nature of the local population, the majority (61%) of diagnosed phenotypes are recessive (94.6% homozygous) and founder variants account for 85% (414/487) of these variants. The same population characteristic has also led to the encounter of extremely rare, even novel recessive disorders including a highly penetrant novel RNF43 -related hemochromatosis, NFXL1 -related syndrome of hyperlaxity, short stature, and kidney disease, as well as autosomal recessive forms of typically dominant disorders. Multilocus phenotypes are observed in 5% of cases although only 26.7% of these are caused by two recessive variants. That 70% of molecular diagnoses encountered in our cohort are typically described in pediatric patients allowed us to observe highly unusual clinical presentations in the adult population. This delayed diagnosis also represents a missed opportunity for effective treatment in many instances and we note the availability of treatment for 26% of diagnosed conditions. Of particular interest are patients with monogenic disorders that could be overlooked as common multifactorial adult diseases (e.g., diabetes, dyslipidemia, stroke, chronic kidney disease, and dementia). Finally, we note the opportunities of deploying adult clinical genomics in an underrepresented population where 45.5% (373/819) of encountered variants are completely absent in gnomAD. Conclusions Our results illustrate numerous benefits of a clinical genomics approach in adult medicine and argue for a broader implementation than currently practiced.

Introduction: Neurology senior residents and stroke fellows are first to clinically assess and interpret imaging studies of patients presenting to the emergency department with acute stroke. The aim of this study was to compare the diagnostic accuracy of brain CT angiography (CTA) with and without CT perfusion (CTP) between neurology senior residents and stroke fellows. Methods: In this neuroimaging study, nine practitioners (four senior neurology residents (SNRs) and five stroke fellows (SFs)) clinically assessed and interpreted the imaging data of 50 cases (15 normal images, 21 large vessel occlusions (LVOs) and 14 medium vessel occlusions (MeVOs) in two sessions, 1 week apart in comparison to final diagnosis of experienced neuroradiologist and experienced stroke neurologist consensus. Interrater agreement of CTA alone and CTA with CTP was quantified using kappa statistics, sensitivity, specificity and overall accuracy. Results: Overall, arterial occlusions were correctly identified in 221/315 (70.1%) with CTA alone and in 266/315 (84.4%) with CTA and CTP (p < 0.001). The sensitivity of overall arterial occlusions detection with CTA alone was 94.2% (95% CI: 90.8%–96.6%) while with addition of CTP was 98% (95% CI: 95.6%–99.3%), The specificity of CTA alone was 74.7% (95% CI: 67.2%–81.3%) which increased with CTP to 84.4% (95% CI: 77.7%–89.8%). The likelihood of correct identification with CTA alone was 156/189 (82.54%) for LVOs and 65/126 (51.59%) for MeVOs. This increased to 169/189 (89.42%; p = 0.054) for LVOs and 97/126 (76.98%; p < 0.001) for MeVOs when the CTA images with CTP were viewed. There was good overall interrater agreement between readers when using CTA alone (k 0.71, 95% CI, 0.62–0.80) and almost perfect (k 0.85, 95% CI, 0.76–0.94) when CTP was added to the image for interpretation. CTA and CTP had a significantly lower median interquartile range (IQR) interpretation time than CTA alone (114 [IQR, 103–120] s vs 156 [IQR, 133–160] s, p < 0.001). Discussion: In cerebral arterial occlusions, the rate of LVO and MeVOs detections increases when adding CTP to CTA. The accuracy and time for diagnosing arterial occlusion can be significantly improved if CTP is added to CTA. As MeVOs are commonly missed by front-line neurology senior residents or stroke fellows, cases with significant deficits and no apparent arterial occlusions need to be reviewed with neuroradiological expertise. Graphical abstract

Background: Intensive care unit (ICU) patients with neurological impairments often require neuroimaging. However, the relative sensitivity of various imaging modalities of the brain has not yet been explored in this population. Methods: In this study, we compare the findings of CT and MRI scans in ICU patients to (1) identify the number and rate of clinically relevant lesion detected by MRI while missed by CT and vice versa and (2) determine specific lesion types for which CT versus MRI discrepancies exist. A review of medical records included CT and MRI reports of patients who underwent these procedures while they were patients in our ICUs between July 2004 and July 2009. MRI and CT were compared regarding their ability to detect clinically relevant abnormalities. Odds ratios with 95% confidence limits were calculated to compare diagnostic categories regarding the rate of discrepant MRI versus CT findings, followed by power analyses to estimate sample sizes necessary to allow for further testing in a larger trial. Results: MRI revealed clinically relevant additional abnormalities over CT in 129 of 136 patients (95%) that included the detection of additional finding for 15/27 hemorrhagic lesions (55.6%), 33/36 (92%) ischemic strokes, 19/27 (70%) traumatic lesions, 8/14 (57%) infections, 15/24 (62.5%) metabolic abnormalities, and all seven neoplasms. Odds ratio analysis revealed the added sensitivity of MRI to be greater for ischemic and neoplastic lesions than for trauma, metabolic-related abnormalities, infection, or hemorrhage. Conclusions: MRI is more sensitive than CT in identifying clinically meaningful lesions in at least a subset of ICU patients, regardless of pathology. Valeur ajoutée de l’IRM par rapport au CT du cerveau chez les patients hospitalisés à l’unité de soins intensifs. Contexte : Chez les patients présentant une atteinte neurologique, hospitalisés à l’unité de soins intensifs (USI), il est souvent nécessaire d’avoir recours à la neuroimagerie. Cependant, la sensibilité relative de différentes modalités d’imagerie du cerveau n’a encore jamais été explorée dans cette population de patients. Méthode : Dans cette étude, nous avons comparé les constatations aux scans CT et IRM chez des patients de l’USI afin d’identifier le nombre et le taux de lésions significatives au point de vue clinique détectées par l’IRM mais manquées par le CT et vice versa et de déterminer le type de lésions pour lesquelles il existe des divergences entre le CT et l’IRM. Nous avons effectué une revue des dossiers médicaux des patients qui avaient subi ces examens au cours de leur hospitalisation à l’USI entre juillet 2004 et juillet 2009, pour lesquels il y avait un rapport de CT et d’IRM au dossier. Nous avons comparé la capacité de l’IRM et celle du CT à détecter des anomalies significatives au point de vue clinique. Nous avons calculé les rapports de cotes avec un intervalle de confiance à 95% pour comparer le taux de divergence des constatations à l’IRM par rapport au CT selon les catégories de diagnostiques et nous avons réalisé des analyses de puissance pour estimer les tailles d’échantillons nécessaires en vue de poursuivre l’étude lors d’un essai de plus grande taille. Résultats : L’IRM a révélé des anomalies additionnelles significatives par rapport au CT chez 129/136 (95%) patients incluant la détection de constatations additionnelles chez 15/27 (55,6%) cas de lésions hémorragiques, 33/36 (92%) cas d’accidents vasculaires cérébraux ischémiques, 19/27 (70%) cas de lésions traumatiques, 8/14 (57%) cas d’infections, 15/24 (62,5%) cas d’anomalies métaboliques et chacun des 7 cas de néoplasies. L’analyse des rapports de cotes a montré que la plus grande sensibilité de l’IRM en faisait un examen supérieur pour les lésions ischémiques et les lésions néoplasiques que pour les lésions traumatiques, les anomalies métaboliques, les infections ou les hémorragies. Conclusions : L’IRM est plus sensible que le CT pour identifier des lésions significatives au point de vue clinique chez au moins un sous-groupe de patients de l’USI, quelle que soit la pathologie en cause.