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.

Brodmann Areas, V1 Atlas and Cognitive Impairment: Assessing Cortical Thickness for Cognitive Impairment Diagnostics.

Background and Objectives: Magnetic resonance imaging is vital for diagnosing cognitive decline. Brodmann areas (BA), distinct regions of the cerebral cortex categorized by cytoarchitectural variances, provide insights into cognitive function. This study aims to compare cortical thickness measurements across brain areas identified by BA mapping. We assessed these measurements among patients with and without cognitive impairment, and across groups categorized by cognitive performance levels using the Montreal Cognitive Assessment (MoCA) test. Materials and Methods: In this cross-sectional study, we included 64 patients who were divided in two ways: in two groups with (CI) or without (NCI) impaired cognitive function and in three groups with normal (NC), moderate (MPG) and low (LPG) cognitive performance according to MoCA scores. Scans with a 3T MRI scanner were carried out, and cortical thickness data was acquired using Freesurfer 7.2.0 software. Results: By analyzing differences between the NCI and CI groups cortical thickness of BA3a in left hemisphere (U = 241.000, p = 0.016), BA4a in right hemisphere (U = 269.000, p = 0.048) and BA28 in left hemisphere (U = 584.000, p = 0.005) showed significant differences. In the LPG, MPG and NC cortical thickness in BA3a in left hemisphere (H (2) = 6.268, p = 0.044), in V2 in right hemisphere (H (2) = 6.339, p = 0.042), in BA28 in left hemisphere (H (2) = 23.195, p < 0.001) and in BA28 in right hemisphere (H (2) = 10.015, p = 0.007) showed significant differences. Conclusions: Our study found that cortical thickness in specific Brodmann Areas-BA3a and BA28 in the left hemisphere, and BA4a in the right-differ significantly between NCI and CI groups. Significant differences were also observed in BA3a (left), V2 (right), and BA28 (both hemispheres) across LPG, MPG, NC groups. Despite a small sample size, these findings suggest cortical thickness measurements can serve as effective biomarkers for cognitive impairment diagnosis, warranting further validation with a larger cohort.

Central Neurocytoma with Extensive Intratumoral Hemorrhage: A Case Report.

BACKGROUND Central neurocytoma (CN) is a rare neuronal tumor of neuroepithelial origin. It has been assigned to World Health Organization classification grade 2. These tumors are usually benign and located in the anterior half of the lateral ventricle, though they can also be found in the third and fourth ventricles. Left untreated, a CN can cause blockage of cerebrospinal fluid, thus leading to hydrocephalus. CNs are exceedingly uncommon, making up just 0.1-0.5% of primary intracranial tumors. The tumors typically develop in people aged 20 to 40. There are no official guidelines on how to treat CN, so treatment options are often individualized on the basis of specific case findings. CASE REPORT A 39-year-old man with an uncomplicated medical history presented with dizziness, increasingly worse headaches, presyncope, and a loss of appetite. Radiological data and postoperative histopathological and histochemical analysis led to the diagnosis of CN with extensive intratumoral hemorrhage. Surgical resection of the tumor was proposed to the patient, to which he agreed. CONCLUSIONS CN is a benign tumor, but it can cause serious or life-threatening complications. Gross total resection of the tumor is recommended if possible, and if deemed beneficial to the patient's clinical condition. This case reports the symptoms of a patient with CN, who underwent gross total resection and showed no sign of any residual tumor tissue on postoperative MRI. By reporting these types of cases, we can take necessary steps ahead of widespread agreement on optimal treatment of patients with neurocytomas.

Human herpesvirus 6 and 7 reactivation and disease activity in multiple sclerosis.

UNLABELLED: Recent studies have focused on the associations between human herpesvirus 6 (HHV-6) and human herpesvirus 7 (HHV-7), and multiple sclerosis (MS). The aim of this study was to investigate the associations between HHV-6 and HHV-7 reactivation and MS disease activity, and interleukin 12 (IL-12) and tumor necrosis factor α (TNF-α) production. MATERIAL AND METHODS: The frequency of plasma viremia by nested polymerase chain reaction and transcription of viral mRNA in peripheral blood mononuclear cells by reverse transcriptase-polymerase chain reaction (RT-PCR) of 14 relapsing/remitting (RR) and 14 secondary progressive (SP) MS patients were studied in comparison with clinical manifestation of the disease. Serum concentrations of cytokines IL-12 and TNF-α were analyzed by enzyme-linked immunosorbent assay. RESULTS: Plasma samples from 25 of the 28 MS patients with estimated latent/persistent HHV-6 and/or HHV-7 infection were examined during relapse and remission/relative remission. HHV-6 reactivation was found in 4 of the 7 RRMS and 4 of the 7 SPMS patients, and HHV-7 reactivation was identified in 3 of the 7 RRMS and 1 of the 7 SPMS patients (all in relapse). In 2 of the 3 RRMS patients without viremia in relapse, HHV-6 mRNA transcription was detected. In RRMS and SPMS patients with active HHV-6 and HHV-7 infection in relapse, the serum concentrations of IL-12 and TNF-α were significantly higher than in those with latent virus infection. CONCLUSIONS: HHV-6 and HHV-7 reactivation could be implicated in the exacerbation of MS via activation of Th1 lymphocyte subsets.