Caudal Regression Syndrome First Diagnosed in Adulthood: A Case Report and a Review of the Literature.

Background: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.

Successful Mechanical Thrombectomy for Basilar Artery Occlusion in a Pediatric Patient: A Case Report.

Studies have shown the benefits of endovascular treatment (EVT) in adult stroke cases, but its application in pediatric stroke remains controversial. Despite evidence of improved outcomes in adults, there are no established recommendations for EVT in children. Conducting individual case reports and case series is vital to understanding its potential advantages and disadvantages in this context. In this case report, a 9-year-old male initially diagnosed with gastroenteritis developed sudden left-sided weakness 1 day after admission. Comprehensive imaging revealed acute ischemia in the cerebellum, indicating a basilar artery thrombus. Urgent endovascular treatment (EVT) was performed 8.5 h after the onset of neurological symptoms, achieving successful revascularization. The patient underwent rehabilitation and was later discharged with improved neurological status. Despite extensive investigations, the stroke's origin remained unknown. After six months, the patient exhibited complete neurological recovery, highlighting the patient's remarkable resilience.

Functional Disability and Brain MRI Volumetry Results among Multiple Sclerosis Patients during 5-Year Follow-Up.

Background and Objectives: We aimed to determine the link between brain volumetry results and functional disability calculated using the Expanded Disability Status Scale (EDSS) among multiple sclerosis (MS) patients in relation to the provided treatment (disease-modifying therapies (DMTs)) during a 5-year follow-up period. Materials and Methods: A retrospective cohort study was performed enrolling 66 consecutive patients with a confirmed diagnosis of MS, predominantly females (62% (n = 41)). Relapsing-remitting (RR) MS was noted in 92% (n = 61) of patients, with the rest being patients with secondary progressive (SP) MS. The mean age was 43.3 years (SD 8.3 years). All patients were evaluated clinically using the EDSS and "FreeSurfer© 7.2.0" radiologically during a 5-year follow-up. Results: A significant increase in patient functional disability was noted, calculated using the EDSS during a 5-year follow-up. The baseline EDSS ranged between 1 and 6 with a median of 1.5 (IQR 1.5-2.0), and after 5 years, the EDSS was between 1 and 7, with a median EDSS of 3.0 (IQR 2.4-3.6). Compared with RRMS patients, SPMS patients demonstrated a significant increase in EDSS score during a 5-year period, with a median EDSS of 2.5 in RRMS patients (IQR 2.0-3.3) and 7.0 (IQR 5.0-7.0) among SPMS patients. Significantly lower brain volumetry results in different brain areas were found, including cortical, total grey and white matter, p < 0.05. Statistically significant differences were observed between baseline volumetry results of the hippocampus and the middle anterior part of the corpus callosum and their volumetry results after 5 years, p < 0.001. In this study population, the thalamus did not demonstrate significant changes in volumetry results during follow-up, p > 0.05. The provided treatment (DMTs) did not demonstrate a significant impact on the brain MRI volumetry results during a 5-year follow-up, p > 0.05. Conclusions: Brain MRI volumetry seriously impacts the early detection of brain atrophic changes. In this study, significant relationship between brain magnetic resonance volumetry results and disability progression among MS patients with no important impact of the provided treatment was described. Brain MRI volumetry may aid in the identification of early disease progression among MS patients, as well as enrich the clinical evaluation of MS patients in clinical patient care.

Tenecteplase or Alteplase Better in Patients with Acute Ischemic Stroke Due to Large Vessel Occlusion: A Single Center Observational Study.

Background and Objectives: The study aimed to investigate the efficacy of intravenous thrombolysis with Tenecteplase before thrombectomy for acute ischemic stroke (AIS) patients compared with previous results using Alteplase. Previous trials for Tenecteplase have indicated an increased incidence of vascular reperfusion. In April 2021, we started to primarily give Tenecteplase to patients eligible to undergo thrombectomy. Materials and Methods: In this retrospective observational single-center non-randomized study, we analyzed directly admitted patients with AIS who had occlusion of the internal carotid, middle cerebral, or basilar artery and who underwent thrombectomy, as well as the recanalization rate for these patients at the first angiographic assessment (mTICI score 2b-3), and complications. Results: We included 184 patients (demographic characteristics did not differ between Tenecteplase and Alteplase groups (mean age 68.4 vs. 73.0 years; female sex 53.3% vs. 51.1%, NIHSS 14 (IQR 4-26) vs. 15 (2-31). Forty-five patients received Tenecteplase and 139 Alteplase before endovascular treatment (EVT). Pre-EVT (endovascular treatment) recanalization was more likely to occur with Tenecteplase rather than Alteplase (22.2% vs. 8.6%, p = 0.02). Successful reperfusion (mTICI 2b-3) after EVT was achieved in 155 patients (42 (93.4%) vs. 113 (81.3), p = 0.07). Hemorrhagic imbibition occurred in 15 (33.3%) Tenecteplase-treated patients compared with 39 (28.1%) Alteplase-treated patients (p = 0.5). Patients treated with Tenecteplase had higher odds of excellent functional outcome than Alteplase-treated patients (Tenecteplase 48.6% vs. Alteplase 26.1%; OR 0.37 (95% CI 0.17-0.81), p = 0.01). Conclusions: Tenecteplase (25 mg/kg) could have superior clinical efficacy over Alteplase for AIS patients with large-vessel occlusion (LVO), administered before EVT. The improvement in reperfusion rate and the better excellent functional outcome could come without an increased safety concern.