Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 mutations. The cohort comprises 11 new and unpublished clinical details from five previously described patients. Only two missense, homozygous, pathogenic variants were found in all affected patients, suggesting a founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. In addition, we knocked down endogenous Drosophila GEMIN4 in neurons to further investigate the mechanism of the functional defects in affected patients. Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients. To date, this study presents the largest cohort of patients affected with GEMIN4 mutations. Considering that identifying GEMIN4 defects in patients presenting with neurodevelopmental delay and congenital cataract will help in early diagnosis, appropriate management and prevention plans that can be made for affected families.

Isolated hemorrhagic arterialized DVAs: revisiting symptomatic DVAs.

We aim to present here a small case series of symptomatic isolated hemorrhagic arterialized developmental venous anomalies (sDVAs) with a larger goal of revisiting the classification based on patho-mechanisms plus emphasizing angiographic features coupled with CT and MRI. Typically, DVA is an incidental and silent abnormality on neuroimaging. Understanding its morphology in terms of arterialization and relationship with other entities is crucial for management. One adult and two pediatric cases presented with acute or sub-acute hemorrhage in the cerebellum or thalamus. Morphologic characterization on cross-sectional imaging and catheter angiography confirmed the integrated diagnosis of "symptomatic isolated hemorrhagic arterialized DVAs with deeper or superficial venous drainage". Conservative management was adopted in all cases. We emphasize the following classification and approach for symptomatic DVAs: (1) congestive isolated arterialized sDVAs, (2) congestive isolated resistive sDVAs, (3) coexisting sDVAs (with AVM or cavernous malformation), (4) compressive sDVAs (compressive effects), and (5) idiopathic DVAs. Like our three cases, ganglionic and infratentorial DVAs have higher propensity of hemorrhage, compressive effects, and usually harbor deeper venous drainage. Typical "caput medusae" as dominant collector vein on cross-sectional imaging is crucial to complement and even confirm the diagnosis of DVA before catheter angiography in sDVAs. Capillary stain or early opacification of DVAs is a marker of arteriovenous shunting in arterialized sDVAs. Recognition of this entity is crucial as treatment is usually conservative.

Diagnostic accuracy of large and medium vessel occlusions in acute stroke imaging by neurology residents and stroke fellows: A comparison of CT angiography alone and CT angiography with CT perfusion.

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.

Snowballing Technique for High Flow Arteriovenous Fistula: A Technical Note.

A novel endovascular technique to occlude high flow direct arteriovenous fistulae is presented, where the distal tip of the microcatheter acts as a nucleus that the operator can grow a plug from a liquid embolic agent. Its advantages (such as cost-saving and distal reachability), disadvantages (such as embolic material instability), and technique are discussed.

Traumatic superficial temporal artery pseudoaneurysm: Successful management using endovascular embolization.

Superficial temporal artery pseudoaneurysms are uncommon but can be potentially life-threatening. Considering their rarity, the present article outlines the clinical presentation, radiological findings, intervention, and outcome of traumatic pseudoaneurysm of the superficial temporal artery. An 83-year-old female sustained a traumatic injury to the temple, resulting in right-sided swelling of the forehead. Brain computed tomography and cerebral angiogram revealed a right-sided homogenously-enhancing pseudoaneurysm in the frontal region. Successful occlusion of the lesion was achieved utilizing endovascular embolization. Three months after discharge, the patient reported no complaints or recurrence. Subsequent management included reassurance and observation with periodic clinical assessments. The unusual presentation of superficial temporal artery pseudoaneurysms requires clinicians to have thorough knowledge on the clinical presentation, proper steps in diagnosis, and the approach of choice in management. Endovascular embolization of superficial temporal artery pseudoaneurysms remains a valid approach to achieve successful occlusion of the lesion.

Endoscopic resection of large endonasal hemangioma: Case report.

INTRODUCTION: Hemangiomas are common vascular benign tumors of the head and neck region. However, it is uncommon for them to arise in the paranasal sinus mucosal tissues. Paranasal sinus hemangiomas have nonspecific characteristics clinically and radiologically, even though it has to be considered as a differential diagnosis to avoid the misdiagnosis of sequalae. PRESENTATION OF THE CASE: We present a case of a 37 year-old female diagnosed with a paranasal large size hemangioma treated with functional endoscopic sinus surgery (FESS). DISCUSSION: The case had a rare anatomical location of the hemangioma, along with a minimally invasive approach for a large size hemangioma. Owing to that fact, it might be challenging to differentiate between paranasal sinus hemangiomas and other benign or malignant pathologies. CONCLUSION: While paranasal sinus hemangiomas occur rarely, they have arisen from the paranasal sinus mucosa. They have an average size of 1 cm, and have been reported to be as large as 8 cm, similarly to this case. When larger in size, hemangioma resections are usually approached through open surgery, whereas, in this case, the hemangioma was resected completely by FESS.

Discrimination of capsular stage brain abscesses from necrotic or cystic neoplasms using diffusion-weighted magnetic resonance imaging.

OBJECT: The authors' aim was to assess the ability of apparent diffusion coefficient (ADC) ratios in distinguishing brain abscesses from cystic or necrotic neoplasms. METHODS: Fifty-three patients with rim-enhancing masses in the brain observed on T1-weighted MR images were included: 26 had abscesses (14 bacterial, six nonbacterial, and six of unknown origin), 11 had glioblastoma multiforme, and 16 had rim-enhancing metastasis. The ADC values, derived from diffusion-weighted imaging, were measured in the most homogeneous portion of the cystic component of the mass. The ADC ratios were calculated by dividing the ADC values from the nonenhancing cystic portion of the mass by the ADC values from contralateral normal-appearing white matter. Lesions were further differentiated based on presence, absence, or incompleteness of a T2 hypointensity rim. The mean (+/- standard deviation) ADC ratios were significantly higher in neoplasms than in abscesses (2.45 +/- 0.91 compared with 1.12 +/- 0:53, p < 0.01). The accuracy of ADC ratios in discriminating abscesses from neoplasms, determined by the area under the receiver operating characteristic curve (Az), was high: 0.91 +/- 0.04 (mean +/- standard error of the mean [SEM]). The threshold of 1.7 was associated with highest efficiency (87%) in discriminating abscesses from neoplasms. If only bacterial abscesses were analyzed compared with neoplasms, the Az increased to 0.96 +/- 0.03 (SEM). Using ADC ratios and T1 rim characteristics, 50 of 53 lesions were correctly classified (efficiency 94.3%). CONCLUSIONS: The accuracy of ADC ratios in discriminating brain abscesses from cystic or necrotic neoplasms is very high and can be further improved using T2 rim characteristics.

Large primary leiomyoma causing progressive cervical deformity.

Leiomyomas are benign smooth tumors that rarely affect the neck area. Complete surgical resection is the treatment of choice. Here, we describe a 13-year-old girl with a large leiomyoma of the neck, which increased in size after incomplete resection. The tumor caused progressive cervical kyphotic deformity, difficulty breathing and severe malnourishment. The tumor was resected successfully in a second surgery, and the patient is stable after 3 years of follow-up. Histopathologically, the tumor was consistent with leiomyoma and showed strong reactivity to specific smooth muscle markers, such as desmin and caldesmon. This is the second reported case demonstrating massive growth of a leiomyoma, with emphasis on complete resection from the beginning.

Neurointerventional participation in craniopagus separation.

Craniopagus-type conjoined twins (joined at the head) are exceedingly rare. Separation of craniopagus conjoined twins is a challenging task mainly owing to complex vascular anatomy and limited experience with this disorder. Modern neuroimaging techniques including digital subtraction angiography can be used to preoperatively assess the cerebral vascular system. These techniques can also provide the raw data to fabricate three-dimensional true-scale models. We report a case in which endovascular techniques have been used in the separation of craniopagus conjoined twins. To our knowledge there are no reports of successful incorporation of neurointerventional methods in the disconnection of shared venous channels.

Accuracy of Canadian CT head rule in predicting positive findings on CT of the head of patients after mild head injury in a large trauma centre in Saudi Arabia.

BACKGROUND: Investigation of unjustified computed tomography (CT) scan in patients with minor head injury is lacking in Saudi Arabia. The purpose of the study was to evaluate the compliance and effectiveness of the Canadian computed tomography head rule (CCHR) in our emergency department (ED) and trauma centre and also to reduce the number of unjustified CT studies of the head in the centre. METHODS: A retrospective study of 368 ED patients with minor head injury was conducted. Patients who underwent CT scan between July 2010 and June 2011 were selected from the ED head trauma registry by systematic randomisation. The CCHR was retrospectively applied on the patients' charts to calculate the prevalence of unjustified head CT scans. A separate survey was conducted to evaluate three emergency physicians' level of awareness about the CCHR and their ability to determine the necessity of CT scans with various clinical scenarios of head injury. RESULTS: The prevalence of unjustified CT scans as per the CCHR was 61.8% (95% confidence interval (CI) 56.5-66.9%). Approximately 5% of the sample had positive CT findings with 95% CI 2.9-7.6%. The CCHR correctly identified 12 cases with positive CT findings with 66.67% sensitivity. Only 24 (6.7%) had Glasgow coma scale scores less than 15 (13/14). The Glasgow coma scale correctly identified only two cases with positive CT findings with 11.11% sensitivity. The percentage of skull fracture (0.9% vs 5%, P=0.030) was significantly lower in patients with unjustified CT scans than in patients with clinically justified CT scans. There was fair to substantial agreement between the ED physicians and the CCHR (κ=35-61%). Two ED physicians identified all cases of justified CT scan with 100% sensitivity (95% CI 71.51-100%). CONCLUSION: The level of education regarding the CCHR was found to be optimal among emergency physicians using a case-based scenario survey. The CCHR was found to have a poor compliance potential in the busy ED of our trauma centre and the prevalence of unjustified cranial CT scans remained high.

Flow-diverter stent for the treatment of a non-origin posterior inferior cerebellar artery aneurysm. A case report.

We describe the case of a 44-year old man with a ruptured wide-necked non-origin aneurysm of the posterior inferior cerebellar artery successfully treated with placement of a low porosity stent. To our knowledge, there are no cases in the literature of a non-origin posterior inferior cerebellar artery aneurysm treated with a flow-diverter stent.