Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.

Perinatal stroke is associated with significant short- and long-term morbidity and has been recognized as the most common cause of cerebral palsy in term infants. The diagnosis of presumed perinatal stroke (PPS) is made in children who present with neurological deficit and/or seizures attributable to focal chronic infarction on neuroimaging and have uneventful neonatal history. The underlying mechanism of presumed perinatal stroke remains unknown and thorough investigation of potential monogenic causes has not been conducted to date. Here, we describe the use of untargeted exome sequencing to investigate a cohort of eight patients from six families with PPS. A likely deleterious variant was identified in four families. These include the well-established risk genes COL4A2 and JAM3. In addition, we report the first independent confirmation of the recently described link between ESAM and perinatal stroke. Our data also highlight NID1 as a candidate gene for the condition. This study suggests that monogenic disorders are important contributors to the pathogenesis of PPS and should be investigated by untargeted sequencing especially when traditional risk factors are excluded.

Intracranial Volume in Relation to Parent Satisfaction and Expert Opinion: A Novel Look at Surgical Outcomes.

Factors like parent satisfaction and expert opinion have been proposed as outcome measures related to craniosynostosis (CS) surgery. However, there is no real tangible score for CS surgery outcomes. In our study, we aimed to explore different factors considered as a tangible outcome measure of CS surgery. Methods: A retrospective cohort study of 23 patients with CS who were operated on in a tertiary care university hospital. Parents were interviewed to assess their satisfaction of aesthetic outcome. This was correlated to two expert opinions and to the amount of skull expansion. Results: The mean follow-up duration was 2.24 ± 1.12 years. Twelve of the 23 fathers were satisfied, whereas 11 of the 23 mothers were satisfied. The overall combined satisfaction rate of both parents was on the higher side with no difference in between. There was a significant association between expansion rate of 7.65 ± 4.99% and the overall parent's satisfaction (P = 0.002). Additionally, there was a good correlation between both experts with statistically significant association (P = 0.004). No correlation was found between the parents' satisfaction and the experts' opinions. Conclusions: The study is valuable, as it investigates the relationship between the expansion rate, parents' satisfaction, and expert opinion as predicted values of craniosynostosis surgery. The overall satisfaction correlated significantly well with the expansion rate. However, such numerical assessment is not a real guide for assessing clinical outcomes' as no association was found between expansion rate, satisfaction rate, and expert opinion.

Arteriovenous Malformation of the Upper Eyelid: A Case Report.

Arteriovenous malformations (AVMs) are rare lesions formed by direct connection of arteries and veins bypassing capillary beds. AVM locations can vary; however, extracranial AVMs remain the least common. The vast majority of these malformations are congenital and can be triggered by hormonal changes. A 49-year-old woman presented with a progressive right-sided upper eyelid swelling over the past 12 years. The patient had mechanical ptosis and mild impairment of the right visual field. The swelling was compressible with a thrill, and bruits were heard. The patient was diagnosed with AVM using cerebral angiography. Preoperative endovascular embolization was not possible; however, surgical excision was successfully done with no complications. AVMs and fistulas are high-flow vascular lesions that usually occur during childhood and progress with time. Only a few cases of face and eyelid AVMs have been reported in the literature. Diagnosis of these anomalies is mostly made based on clinical presentation and radiographic imaging such as angiography. Treatment options remain controversial, and management should be individualized for each patient. Endovascular embolization followed by surgical excision is advisable in many cases. Due to its rare entity, information regarding the best management options for AVMs is limited. Reducing the risk of bleeding and achieving total resection is the goal of treatment. Long-term follow-up is required in these patients because recurrent cases of AVMs have been reported.

Morphometric Analysis of Subaxial Cervical Spine Pedicles in a Middle Eastern Population.

BACKGROUND: Pedicle screw instrumentation of the posterior cervical spine is the most secure form of fixation available to surgeons. It has not achieved widespread use yet in the Middle East, mostly due to concerns regarding its feasibility in the target population. A detailed morphometric analysis of the lower cervical spine pedicles using computerized tomography (CT) was proposed to address this issue. METHODS: Two hundred and seventy patients were enrolled in the study. CT scans were reviewed by two experienced assessors, and measurements of pedicle width (PW), height (PH), and transverse angle (TA) were recorded for all patients. Interobserver and intraobserver reliability were calculated using the kappa statistic. Sex differences were also recorded and analyzed. The t test was used to assess for any significant differences in measurements due to sex (P < .05). RESULTS: The mean PW varied from 4.4 mm in C3 to 6.1 mm in C7. The mean PH was 6.4 mm in C3 and 6.8 mm in C7. Pedicle TA varied from 42 to 51 degrees between the different levels. Sex differences were observed and were statistically significant for PW and PH. Interobserver reliability was high for PW and PH, but was low for TA. Intraobserver reliability was 0.99 for both assessors. CONCLUSION: This study provides reliable PW and PH measurements and demonstrates that cervical pedicle screw instrumentation is feasible in our local population. Significant variability exists, however, and each patient must be addressed individually for best results. LEVEL OF EVIDENCE: 3. CLINICAL RELEVANCE: This study shows that the morphology of the subaxial cervical pedicle permits instrumentation in a majority of cases of our target population.

Reversible Cerebral Vasoconstriction Syndrome after Nifedipine Withdrawal.

Reversible cerebral vasoconstriction syndrome (RCVS) is an essential but often unrecognized cause of intracranial haemorrhage. While there are no specific causes of the syndrome, associations with many clinical conditions and drugs have been observed, and calcium channel blockers (CCBs) are often used to relieve the symptoms. This is a case of RCVS that was triggered by the sudden withdrawal of nifedipine, a CCB.

Transient in-stent stenosis at mid-term angiographic follow-up in patients treated with SILK flow diverter stents: incidence, clinical significance and long-term follow-up.

BACKGROUND: Little is known about in-stent stenosis (ISS) in patients with aneurysms treated with flow diverter (FD) stents. The reported incidence in the literature varies significantly. OBJECTIVE: The aim of this study was to assess the incidence, severity, distribution, clinical significance, and possible predictors for ISS. METHODS: Between July 2012 and June 2016 we retrospectively reviewed all patients treated with SILK FDs in our center. Only cases with short-term (4±2 months) and long-term (>1 year) follow-ups with digital subtraction angiograms were included. ISS was graded as mild (<25%), moderate (25-50%) or severe (>50%). The following predictors for ISS were assessed: gender, age, the presence of subarachnoid hemorrhage, aneurysm size, location, occlusion status, and post-stenting angioplasty. RESULTS: Thirty-six patients met the inclusion criteria. At mid-term follow-up, ISS was observed in 16/36 patients (44%). Eleven patients (69%) had mild ISS, three (19%) moderate, and two (12%) severe ISS. ISS was diffuse in 11 patients (69%) and focal in five patients (31%). All patients were asymptomatic. Thirteen patients were maintained on dual antiplatelet therapy and three on aspirin alone. At long-term follow-up, complete ISS resolution was seen in 11 patients, improvement in three and worsening in two patients. No de novo ISS occurrence was observed. On univariate analysis there was no significant predictor for ISS. CONCLUSIONS: Transient ISS after FD deployment is a common asymptomatic finding on mid-term angiographic follow-up. Complete resolution or improvement at long-term follow-up is seen in most patients who are maintained on dual antiplatelet therapy.

The Normal Adult Human Internal Auditory Canal: A Volumetric Multidetector Computed Tomography Study.

OBJECTIVE: The purpose of this study was to demonstrate that volumetric analysis of multidetector computed tomography (CT) images can be used to calculate the volume of the adult human internal auditory canal (IAC) reproducibly, and to describe the range of normal IAC volumes in the adult population with subgroup analysis of sex, age, and laterality. BACKGROUND: Previous studies of the IAC have typically used measurements in two dimensions or by using casts of cadavers to measure IAC volumes. This study is the first to report the normal ranges of IAC volumes measured by CT. METHODS: Two hundred eighty-one CT scans were assessed. Of the CT scans that met the inclusion criteria, a software package was used to manually contour the IACs in each subject to calculate the volumes in cubic millimeters. Subgroup analysis of laterality, sex, and age was evaluated. Interobserver agreement was calculated for the first 59 patients (118 canals). RESULTS: Two hundred fifty-nine scans (518 canals) met the inclusion criteria. The volumes ranged from 74 to 502 mm, with no statistically significant difference between left and right (p value = 0.69). In males, the range of volumes measured 74 to 502 mm while in females it ranged from 78 to 416 mm. Males had larger IAC volumes than females (Wilcoxon rank-sum test: S = 14,845.0, p value = 0.01 on the right, and S = 14,646, p value = 0.004 on the left). No correlation was found with age (Spearman: -0.10, p value = 0.09 on the right and -0.04, p value = 0.50 on the left). Excellent interobserver agreement was found. CONCLUSION: IAC volumes of normal adult subjects, measured by CT, were larger in males and not significantly different with respect to age or laterality.