Canalis basalis medianus with cerebrospinal fluid leak: rare presentation and literature review.

Canalis Basalis Medianus is a rare congenital normal anatomically variant of the clivus .We report a very rare case of cerebrospinal fluid leak from a canalis basilaris medianus in a 22-year-old male, who presented to our hospital with frontal headache and running nose two weeks after an elective septoplasty.

The diagnostic utility of unenhanced computed tomography of the brain and D-dimer levels in acute cerebral venous sinus thrombosis: A quantitative study.

Objectives: (1) To calculate the sensitivity and specificity of the Hounsfield Unit (HU), the HU to hematocrit (H:H) ratio, and the D-dimer level in the diagnosis of acute CVST. (2) To assess the D-dimer level's linear relationship with the HU and the H:H ratio. Materials and Methods: A single-center retrospective case-control study was conducted from 2005 to 2020. The inclusion criteria for the thrombosed and control groups were specified. A region of interest (ROI) was plotted on the respective sinuses to calculate the HU. The H:H ratio was calculated by dividing the HU value by the hematocrit value. The receiver operating characteristic curve was used to calculate the sensitivity and specificity of the HU and the H:H ratio at different cutoff values. The Pearson correlation was used to assess the linear relationship between the D-dimer level and the HU and H:H ratio. Results: There were 19 patients in the thrombosed group and 28 patients in the control group. There were significant differences in the mean HU (71 ± 6.3 vs. 45 ± 4.8, P < 0.001) and the mean H:H ratio (2.11 ± 0.38 vs. 1.46 ± 0.63,P < 0.001). An optimal HU value of 56 yielded 100% sensitivity and specificity. An H:H value of 1.48 yielded a sensitivity of 100% and a specificity of 65%, an H:H ratio of 1.77 demonstrated a sensitivity of 85% and a specificity of 90%, and an H:H ratio of 1.88 yielded a sensitivity of 79% and a specificity of 93%. D-dimer levels had a 95% and 71% sensitivity and specificity, respectively. There was a significant moderately positive linear correlation between the D-dimer level and the HU (r = 0.52, P < 0.001) and the H:H ratio (r = 0.61, P < 0.001). Conclusion: Unenhanced CT of the brain can be a valuable objective diagnostic tool for acute CVST diagnosis. Hounsfield blood density and its normalized ratio with hematocrit are positively correlated with D-dimer levels, which may indicate active blood coagulation in a cerebral venous sinus.

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients' clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.