Cerebrovascular Anomalies Research Articles

PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.

OBJECTIVE. PHACES syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defect with or without supraumbilical raphe. Usually, brain imaging is performed when facial hemangiomas are larger than 5 cm. Data on associated anomalies regardless of hemangioma size are sparse. The objective of this study was to determine, first, the prevalence of PHACES-like associated anomalies in a large sample of infants with all sizes of segmental facial or periorbital focal infantile hemangioma and, second, whether the cutaneous localization of the hemangioma correlates with the type of anomalies present. MATERIALS AND METHODS. The records of all patients of a vascular anomalies practice who had a diagnosis of segmental facial or periorbital focal infantile hemangioma and who had clinical photographs and brain MRI available were reviewed. The clinical photographs were reviewed to determine the localization by segment and lateralization. MRI was reviewed by two experienced pediatric radiologists. If present, cardiovascular anomalies, sternal defects, and eye anomalies were recorded. The criteria for definite and possible PHACES were used. RESULTS. The study included 122 children (90 girls, 32 boys; mean age, 16.6 months). Forty-five (36.9%) children had a facial infantile hemangioma larger than 5 cm. Twenty-two patients (18.0%) had PHACES or possible PHACES syndrome. Cerebrovascular structural anomalies were seen in 14 of 22 and brain anomalies in 6 of 22 patients with PHACES syndrome but in none and one of the patients in the group without PHACES (p < .001). Cardiovascular anomalies were seen in six patients and ocular anomalies in eight patients. All but one of them had PHACES syndrome. CONCLUSION. Clinical concern about associated extracutaneous anomalies is warranted for all children with facial segmental or periorbital focal infantile hemangiomas, including those with small hemangiomas. Further studies are needed to correlate cerebrovascular anomalies with the clinical evolution of hemangiomas and their effects on cerebral perfusion.

Fractional anisotropy in white matter hyperintensities is linked to associative memory performance

AbstractBackgroundAlzheimer’s disease pathology commonly coexists with cerebrovascular anomalies, suggesting a strong association between cerebrovascular lesions and cognitive performance. While different types and locations of cerebrovascular lesions such as strokes and white matter hyperintensities (WMHs) may interfere with various cognitive domains, these associations are not thoroughly understood. The most common approach to characterize and evaluate cerebral lesions is with structural neuroimaging. However, diffusion tensor imaging (DTI) can assess the microstructural integrity of cerebral tissue lesions, which may directly impact neuronal communication and consequently cognitive function. This study examines the variation in DTI metrics within different cerebrovascular lesions and their association with cognition in people with cerebrovascular disease (CVD).MethodThe variation of DTI metrics in 10 different cerebral tissues and lesions was examined in 152 subjects (aged 55‐85 years, 32% female) with CVD, (evidenced by an ischemic stroke event documented by MRI or CT, with a modified Rankin score 0‐3) available from the Ontario Neurodegenerative Disease Research Initiative (ONDRI). Fractional anisotropy (FA) and mean diffusivity (MD) were measured using an established DTI processing pipeline from 3 Tesla DTI images (32 directions, b=1000 s/mm2). Cerebral tissue lesion masks were obtained by semi‐automated segmentation of the structural T1‐weighted images to calculate average DTI metrics in each region of interest (ROI). In addition, FA in normal appearing WM (NAWM) and WMHs were correlated with MoCA score (measure of gross cognition), Rey Auditory Verbal Learning Test Long‐Delayed Recall score (measure of episodic memory), Trail Making Test‐Part B in seconds (measure of executive function), and Face‐Name Associative Memory Test score (measure of associative memory).ResultFigure 1 shows a T1‐weighted anatomical image, corresponding tissue mask identifying vascular lesions, and corresponding MD and FA maps. Fig. 2 provides the average FA and MD in different cerebral tissues/lesions. FA within WMHs was found to be significantly correlated with Face Name Associative Memory Test score (p‐value&lt;0.01, r=0.23, Fig. 3) after Bonferroni correction. No other significant associations were identified.ConclusionConsiderable heterogeneity in DTI metrics was observed between cerebral tissues and lesions. Importantly, the structural integrity within WMHs also associated with higher associative memory performance.

Are pediatric patients with PHACE association at high risk for anesthetic complications?

PHACE association (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, and eye abnormalities) is a rare X-linked neurocutaneous association that occurs more frequently in females.1-5 Cerebrovascular anomalies are most common among PHACE association patients (57%), followed by cardiovascular (43%), eye (16%), ventral developmental defects (21%), and endocrine abnormalities (6%).5 To date, there are a few case reports of the anesthetic management of children with PHACE .1,3 The purpose of this retrospective case series is to report the perioperative complications in children with PHACE at a large pediatric academic tertiary referral center.

Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts

We herein describe a pediatric case of bilateral morning glory anomaly whose retrobulbar cysts and renal disease were underdiagnosed, and finally, he was diagnosed with renal coloboma syndrome. We recommend patients with colobomatous optic nerve malformations undergo a complete workup to avoid missed diagnosis, which includes (i) general physical examination looking for heart defects, genitourinary, auricular, and midline facial defects among other abnormalities; (ii) simple nephrologic investigations such as routine urine test and/or renal ultrasound to check for renal hypoplasia; and (iii) neuroimaging check for cerebrovascular anomalies and midline cranial defects. Genetic testing can be a useful tool to guide the workup.

Performance evaluation of unpreprocessed and pre-processed ultrasound images of carotid artery using CNN algorithm

Detection of plaques is an important task especially those which are prone to rupture and may dislocate to some other body parts. Also early detection reduces the risk of cardiac and cerebrovascular anomalies. Due to its wide availability and low cost, ultrasound images of carotid artery has the ability and potential to gain the preference over other resources for plaque detection and analysis in medical practice. However, the difficulty caused in automated techniques to identify plaques is significantly due to image noise, plaque size and the complex appearance of tissues comprising a plaque. So, in this paper, we have addressed this problem by using deep learning techniques such as CNN algorithm. Here we will build a CNN (Convolutional Neural Network) that will extract features from the dataset of images thereby giving detailed information which will help the clinicians to identify the abnormalities and constituents of different plaques in an image and report the image as “normal” or “abnormal”. In this paper we have used approximately 1000 images (JPG format) of 100 cases to process and has validated the proposed convolutional neural network (CNN). The process of cross-validation with the clinical assessment showed a correlation of about 0.75 for the detection of plaque. This results indicate the potential of deep learning techniques in medical fields, here, automatic detection of anomalies in carotid ultrasound images.

Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study

Background: PHACE syndrome is a rare inborn condition characterized by large facial hemangiomas and variable malformations of the arterial system, heart, central nervous system, and eyes. According to Orphanet estimates, the prevalence is <1.0 per million. Data from Europe are limited to small case series, and there are no population-based data available. Objectives: We conducted the present study to provide population-based estimates of the disease prevalence of PHACE syndrome in children in Germany, Switzerland, and Austria. We compared these first systematic data on PHACE syndrome from Europe to published data from the PHACE Syndrome International Clinical Registry and Genetic Repository (USA). Clinical features in our cohort with PHACE syndrome were assessed in detail, including the need for early supportive measures. Methods: We used a population-based approach by means of a previously well-established network of child neurologists from Germany, Switzerland, and Austria (“ESNEK”) to identify potential patients. The patients’ guardians and child neurologists were asked to fill in questionnaires developed in collaboration with the International PHACE Registry. Results: We identified 19 patients with PHACE syndrome. Estimated prevalence rates were 6.5 per million in Switzerland, 0.59 per million in Germany, and 0.65 per million in Austria. A subset of 10 patients from Germany and Switzerland participated in our study, providing detailed clinical assessment (median age: 2.5 years; 9 females, 1 male). Cerebrovascular involvement was frequent (80%). Facial hemangioma extent correlated significantly with the number of organs involved (p = 0.011). In 9 out of 10 patients, facial hemangiomas were treated successfully with oral propranolol. Baseline demographic data as well as the rate of cerebrovascular and cardiovascular anomalies were in line with those from the US International PHACE Registry and other published PHACE cohorts. Conclusions: Our study provides population-based estimates for PHACE syndrome in 3 German-speaking countries. The data from Switzerland indicate that PHACE syndrome may be more prevalent than demonstrated by previous reports. Underreporting of PHACE syndrome in Germany and Austria likely accounts for the differences in prevalence rates. The clinical observation of a potential association between the size of facial hemangioma and extent of organ involvement warrants further investigation.

VACTERL Association in a Newborn – A Rare Case Report

Syndrome or association VACTERL is a group of several birth defects of congenital anomalies in an individual. There must be at least 3 anomalies simultaneously for this syndrome to be referred, including spinal anomalies, anorectal anomalies, cardiac disorders, esophageal atresia with tracheoesophageal fistula, renal anomaly and limb anomalies. The organs involvement in VACTERL may present different severity and quality, from asymptomatic to life-threatening cases. Various studies have reported the other congenital associations such as cerebrovascular and pulmonary anomalies in addition to the above-mentioned called as the non-VACTERL association. The patient in this study had all 6 VCTERL syndrome criteria. The feature of this patient was the involvement of his limb and kidney anomaly, which were different on both sides. However, in previously reported cases, these two anomalies were both in one direction and on the same side. Finally, the VACTERL syndrome and Non-VACTERL Association in this patient represented in the form of esophageal atresia with trachea esophageal fistula and atrial septal defect, and the presence of a kidney with severe hydronephrosis and sacral agenesis and imperforated anus, recto vesical fistula and limb anomalies in the form of one-phalanx fingers on the left.

Recurrence of cavernous malformations after surgery in childhood.

Cavernous malformations (CMs) are commonly treated cerebrovascular anomalies in the pediatric population; however, the data on radiographic recurrence of pediatric CMs after surgery are limited. The authors aimed to study the clinical presentation, outcomes, and recurrence rate following surgery for a large cohort of CMs in children. Pediatric patients (≤ 18 years old) who had a CM resected at a single institution were identified and retrospectively reviewed. Fisher's exact test of independence was used to assess differences in categorical variables. Survival curves were evaluated using the Mantel-Cox method. Fifty-three patients aged 3 months to 18 years underwent resection of 74 symptomatic CMs between 1996 and 2018 at a single institution. The median length of follow-up was 5.65 years. Patients most commonly presented with seizures (45.3%, n = 24) and the majority of CMs were cortical (58.0%, n = 43). Acute radiographic hemorrhage was common at presentation (64.2%, n = 34). Forty-two percent (n = 22) of patients presented with multiple CMs, and they were more likely to develop de novo lesions (71%) compared to patients presenting with a single CM (3.4%). Both radiographic hemorrhage and multiple CMs were independently prognostic for a higher risk of the patient requiring subsequent surgery. Fifty percent (n = 6) of the 12 patients with both risk factors required additional surgery within 2.5 years of initial surgery compared to none of the patients with neither risk factor (n = 9). Patients with either acute radiographic hemorrhage or multiple CMs are at higher risk for subsequent surgery and require long-term MRI surveillance. In contrast, patients with a single CM are unlikely to require additional surgery and may require less frequent routine imaging.

Cerebral vascular malformations and their imaging modalities.

Cerebrovascular malformations are uncommon diverse group of dysmorphic vascular communications that may occur sporadically or as part of genetic syndromes. These include non-neoplastic lesions such as arteriovenous malformations (AVM), cavernous malformations (CM), developmental venous anomalies (DVA), and telangiectasias as well as others like arteriovenous fistulas (AVF), vein of Galen malformations (VOGM), and mixed or unclassified angiomas. These lesions often carry a high degree of morbidity and mortality often requiring surgical or endovascular interventions. The field of cerebrovascular anomalies has seen considerable advancement in the last few years. Treatment and management options of various types of brain anomalies have evolved in neurological, neurosurgical, and neuro-interventional radiology arena. The use of radiological imaging studies is a critical element for treatment of such neurosurgical cases. As imaging modalities continue to evolve at a rapid pace, it is imperative for neurological surgeons to be familiar with current imaging modalities essential for a precise diagnosis. Better understanding of these cerebrovascular lesions along with their associated imaging findings assists in determining the appropriate treatment options. In the current review, authors highlight various cerebrovascular malformations and their current imaging modalities.

The results of the study on brain stroke during pregnancy and postpartum period

Background In recent years, as a one of the major obstetric complications, many stroke cases are occurred among women of the reproductive age groups associated with pregnancy and birth rates. Method Total of 5272 stroke patients were admitted in the Stroke Department of the Third State Central Hospital from 1 November 2013 to 01 December 2018. From them, 35 women, who were admitted due to pregnancy and postpartum period, were selected. Results During the five years of the study, a total of 35 maternal stroke cases were analyzed. In all cases, women aged 16–49 are dominated and average age was 31.4 ± 6.8. Early pregnancy (16–19 age) were 3 (8.6%), late pregnancy (above 35 age) were 9 (25.7%). Types of stroke were determined in all cases, hemorrhagic 12 (34.3%) ischemic 12 (34.3%), subarachnoid hemorrhage 7 (19.9%). Two cases of them located in spinal cord and four cases (11.4%) were cerebral venous sinus thrombosis. Evaluation of risk factors revealed that 12 cases were caused by high blood pressure associated with pregnancy, 15 cases were associated with preeclampsia, 10 cases were associated cerebrovascular anomaly. Our this study was no maternal mortality. Conclusion According to the results of the study, women aged above 35 years old, are commonly affected by stroke due to complication of pregnancy. The main risk factors are high blood pressure, cerebrovascular disorder, and coagulopathy such as venous stasis.

Vein of Galen Malformations: The Texas Children's Hospital Experience in the Modern Endovascular Era.

Vein of Galen malformations (VOGM) comprise nearly a third of pediatric cerebrovascular anomalies, with potentially devastating neurological and systemic complications. Advances in endovascular therapies have dramatically improved outcomes compared to historical surgical treatments, and neurosurgeons are an essential component of the multidisciplinary critical care team. To retrospectively review pediatric patients with VOGM treated at Texas Children's Hospital (TCH), a quaternary referral center, over 15 yr, and present lessons learned in treating children with modern endovascular techniques. Charts from TCH were retrospectively reviewed for the past 15 yr. Patients with diagnosis including "Vein of Galen," "Vein of Galen malformation," "Vein of Galen aneurysmal malformation," or any abbreviations (ie, VOG, VOGM, VOGAM) were reviewed. Presentation, imaging, treatment specifics, and clinical outcomes were reported. There were 18 patients with VOGM managed at TCH from 2002 to 2018 with a total of 29 embolizations. Seventeen were performed with a single embolisate (NBCA or Onyx), and 12 with a combination. A dual lumen balloon catheter was used as an adjunct in 3 embolizations. Complications occurred in 5 embolizations (24%), including hemorrhage, embolisate migration, and femoral vessel occlusion. Surviving patients were followed for a mean of 38 mo, with 12 having normal or near-normal neurological development. VOGM can present with a myriad of neurological and systemic symptoms, potentially in extremis. Neurosurgical involvement in these cases is critical, as urgent treatment can be lifesaving. Patients may require multiple treatment sessions using a variety of endovascular tools and techniques.

A STUDY ON CLINICO- RADIOLOGICAL PRESENTATION OF STROKE AND ITS ASSOCIATION WITH OUTCOME

BACKGROUND: Cerebrovascular diseases include some of the most common and devastating disorders: ischemic stroke, hemorrhagic stroke, and cerebrovascular anomalies such as intracranial aneurysms and arteriovenous malformations. A stroke, or cerebrovascular accident, is defined by this abrupt onset of a neurologic deficit that is attributable to a focal vascular cause. Thus, the definition of stroke is clinical, and laboratory studies including brain imaging are used to support the diagnosis.&#x0D; AIMS: 1.To correlate clincoradiological findings in terms of prognosis, 2. To know different types of stroke along with its area of involvement and vascular distribution and its relation with outcome, 3. Role of CT SCAN brain as an early diagnostic modality to say clinical outcome.&#x0D; METHODS: This descriptive epidemiological study with a cross sectional study design is to be conducted in the department of medicine (indoor), R.G.KAR Medical College and Hospital. 1st June 2017 to 31st may 2018. 100 cases to be selected during study period based on following criteria. Detailed clinical history, clinical examinations with Radiological imaging like computed tomography of brain is done. We use scoring system like Intracerebral haemorrhage score, Glasgow coma scale, Modified rankin scale. Based on clinical examination proforma all the study population had been examined including recording of blood pressure and Glasgow coma score at the time of admission. Analysed by Modified Rankin scale till the 5th day post-hospital admission after stroke.&#x0D; RESULT: Among the total 100 study population 59 cases were of Infarction and 41 cases were of Haemorrhagic type of stroke. Within the 59 Cases of Infarction 39 (i.e. 66%) were male cases and 20 (i.e 34%) were female cases. Within the 41 cases of Haemorrhage 29 (i.e. 71%) were male and 12 (i.e. 29%) were female. The mean age of the study population of Infarction cases was 55.55 years ±12.84 SD. The mean age of the study population of Haemorrhage cases was 57.48years±13.46SD. Infraction cases show increased mortality among the group having systolic blood &amp; diastolic pressure ≥ 180 mm of Hg, ≥ 110 mm of Hg respectively. Hemorrhagic cases show increased mortality among the group having systolic blood pressure, diastolic pressure ≥ 180 mm of Hg, ≥ 110 mm of Hg respectively.&#x0D; CONCLUSION: Incidence of haemorrhage is much higher in India (41% as per our study). The study population between 51- 60 years is most predominant age group in both the types of stroke. Most of the infarction cases presents with unconsciousness followed by slurring of speech. Most common presenting symptoms of Haemorrhagic stroke are unconsciousness, present at about 56% of cases. The most prominent risk factor in our study population is undetected and/or uncontrolled hypertension. Study population with SBP ≥180 and/or DBP ≥110 mm of Hg group have increased rate of mortality from stroke. The major type of ischemic stroke in our study population is partial anterior circulation stroke (PACI) 47.4%. Most of the study population having Infarction has developed severe disability at the end of 5 days of observation, comprising of 40.5% of the total observation.&#x0D; Keywords: CVA (cerebrovascular accident), CT Scan (computed tomography), MRI (Magnetic resonance imaging), GCS Scale (Glasgow coma scale)

Abstract TP584: Higher Prevalence of Congestive Heart Failure (CHF) in Hereditary Hemorrhagic Telangiectasia (HHT) Secondary to Anemia and Artero-venous Malformations (AVMs)

Introduction: Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder with vascular anomalies of various organ systems including the skin, brain, heart, lungs, and liver. While the most commonly recognized disease burden of HHT are epistaxis and mucocutaneous telangiectasia, the development of vascular malformations can result in more severe symptoms such as cerebral hemorrhage, liver cirrhosis, and stroke. Various case reports/series have reported high output cardiac failure, secondary to presence of a single large AVM or multi organ AVMs, as a major cause of morbidity and mortality in HHT population. To the best of our knowledge, this is the first study analyzing the cardiovascular disease burden in HHT patients from a large national database. Methodology: All HHT patients were identified using ICD-9 code 448.0 using the 2014 National Inpatient Sample (NIS) database. Comorbidities - intracerebral hemorrhage (431), cerebrovascular anomaly (747.81), congestive heart failure (428.0), anemia (285.9) were also identified using the ICD-9 coding system. Descriptive and inferential statistical analysis were performed using SAS 2015. Results: A total of 842 HHT patients were identified with relatively older patients having increased prevalence of anemia (29% vs 15%), congestive heart failure (16% vs 8%), intra-cerebral hemorrhage (0.5% vs 0.3%), hypertension (47% vs 42%) compared to general population, respectively. We report HHT to be linked with having higher odds (p &lt; 0.05) of congestive heart failure (1.6 times), chronic pulmonary lung disease (1.7 times), liver disease (3 times), anemia (1.6 times), cerebrovascular anomaly including cerebral AVMs (26 times), and other neurological disorders than patients without HHT, after adjusting for confounders. Conclusion: This is the first database study confirming higher prevalence of CHF in HHT. We infer that chronic anemia and AVM/AVF can cumulatively cause high output congestive heart failure causing increased morbidity and mortality in HHT population especially in advanced ages.

Endothelial Mitochondrial Preprotein Translocase Tomm7-Rac1 Signaling Axis Dominates Cerebrovascular Network Homeostasis.

Objective- Mitochondria are the important yet most underutilized target for cardio-cerebrovascular function integrity and disorders. The Tom (translocases of outer membrane) complex are the critical determinant of mitochondrial homeostasis for making organs acclimate physiological and pathological insults; however, their roles in the vascular system remain unknown. Approach and Results- A combination of studies in the vascular-specific transgenic zebrafish and genetically engineered mice was conducted. Vascular casting and imaging, endothelial angiogenesis, and mitochondrial protein import were performed to dissect potential mechanisms. A loss-of-function genetic screening in zebrafish identified that selective inactivation of the tomm7 (translocase of outer mitochondrial membrane 7) gene, which encodes a small subunit of the Tom complex, specially impaired cerebrovascular network formation. Ablation of the ortholog Tomm7 in mice recapitulated cerebrovascular abnormalities. Restoration of the cerebrovascular anomaly by an endothelial-specific transgenesis of tomm7 further indicated a defect in endothelial function. Mechanistically, Tomm7 deficit in endothelial cells induced an increased import of Rac1 (Ras-related C3 botulinum toxin substrate 1) protein into mitochondria and facilitated the mitochondrial Rac1-coupled redox signaling, which incurred angiogenic impairment that underlies cerebrovascular network malformation. Conclusions- Tomm7 drives brain angiogenesis and cerebrovascular network formation through modulating mitochondrial Rac1 signaling within the endothelium.

Pediatric Congenital Cerebrovascular Anomalies.

Congenital cerebrovascular anomalies in the pediatric age group are myriad with diverse etiologies. The purpose of this paper is to provide an imaging overview of congenital vascular malformations and vascular tumors, as these conditions are varied and the characteristic vascular abnormality may even suggest the underlying systemic condition in helping to guide further management. For example, the identification of an arterial anomaly such as agenesis/hypoplasia/duplication may warrant further evaluation for an associated syndrome. Recognition of other pertinent findings, such as persistent carotid-vertebrobasilar anastomoses for instance, would be particularly important for the planning of potential embolization/coiling of associated vascular malformation and/or aneurysm. Awareness of congenital dural sinus anomalies, including hypoplasia, aplasia, and or duplication, prevents the incorrect or overdiagnosis of sinus thrombosis. Moreover, multiple developmental venous anomalies in a patient may require further investigation for its familial association. In a similar context, there may be familial association with multiple cavernous malformations and children with central nervous system vascular malformations may have an association with other vascular conditions, eg, hereditary hemorrhagic telangiectasia, etc. An accurate description of vascular lesions is critical for understanding the natural history of the disease process and ultimately for guiding treatment. An important example of this includes Sturge-Weber syndrome, which is often incorrectly viewed as an arteriovenous malformation, but actually a type of venous malformation. Another example which is important to recognize includes the differentiation between an infantile hemangioma and a vascular malformation, particularly as the course of the pathology and the treatment is so different between the two.

Genetic testing for Mendelian stroke due to cerebrovascular anomalies and other syndromes

Abstract Stroke is defined as a focal or at times global neurological impairment of sudden onset and presumed vascular origin. 85% of strokes are due to cerebral ischemia and the other 15% to primary intracerebral hemorrhage. Ischemic stroke (IS) is characterized by complete or partial obstruction of a vessel in the brain, resulting in lack of blood supply and death of brain tissue. The most common causes of IS are atherosclerosis, cardioembolism and small-vessel disease (lacunar stroke). Genetic factors play important role. Incidence rates for IS in the 15- to 45-year age range are ≈10 per 100,000 person years. Hemorrhagic stroke (HS) is the least treatable and the most fatal form of cerebrovascular disease. Genetic mechanisms play a role in its development. Occurrence depends on many risk factors, including hypertension, heavy alcohol intake and anticoagulant treatment. According to the World Health Organization, 15 million people suffer stroke worldwide each year. The overall incidence of spontaneous HS worldwide is 24.6 per 100,000 person years. Strokes are the third most common cause of death and the most common cause of disability in developed countries. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Vascular tumors and malformation of the optic disk

SummaryThree main types of angiomatous tumors of the optic disc may be considered: 1. Capillary angiomas associated or not with retinal angiomatosis are considered as a peculiar form of von Hippel or von Hippel‐Lindau disease. If they grow they may provoke extensive exudative response resulting ultimately in functional loss of the eye. However treatment is quite challenging. As long as vision is not threatened observation is advised. Direct laser photocoagulation of the tumor will result in severe nerve fiber damage and major loss of visual loss. PDT with or without intravitreal anti‐VEGF injections can be considered. The use of proton beam irradiation has been advocated in selected cases. 2. Cavernous angiomas of the optic disc are very rare. They may also be associated with a cavernous angioma of the retina. As most cases are non‐progressive, treatment is not advised. Neuro‐imaging has to be considered as cavernous angiomas of the retina can be associated with a cerebral angioma. 3. Angioma racemosum or congenital retinal AV malformations. In such cases the optic disc involvement is only part of the fundus lesion.If associated with cerebrovascular and dermatological anomalies the disease is called Wyburn‐Mason syndrome.

Validation of an International Classification of Disease, Ninth Revision coding algorithm to identify decompressive craniectomy for stroke

BackgroundAlthough International Classification of Disease, Ninth Revision, Clinical Modification (ICD9-CM) coding is the basis of administrative claims data, no study has validated an ICD9-CM algorithm to identify patients undergoing decompressive craniectomy for space-occupying supratentorial infarction.MethodsPatients who underwent decompressive craniectomy for stroke at our institution were retrospectively identified and their associated ICD9-CM codes were extracted from billing data. An ICD9-CM algorithm was generated and its accuracy compared against physician review.ResultsA total of 10,925 neurosurgical operations were performed from December 2008 to March 2015, of which 46 (0.4%) were decompressive craniectomy for space-occupying stroke. The ICD9-CM procedure code for craniectomy (01.25) was only encoded in 67.4% of patients, while craniotomy (01.24) was used in 19.6% and lobectomy (01.39, 01.53, 01.59) in 13.1%. The ICD-9-CM algorithm included patients with a diagnosis codes for cerebral infarction (433.11, 434.01, 434.11, and 434.91) and a procedure code for craniotomy, craniectomy, or lobectomy. Patients were excluded with an ICD9-CM diagnosis code for brain tumor, intracranial abscess, subarachnoid hemorrhage, vertebrobasilar infarction, intracranial aneurysm, Moyamoya disease, intracranial venous sinus thrombosis, vertebral artery dissection, congenital cerebrovascular anomaly, head trauma or an ICD9-CM procedure code for laminectomy. This algorithm had a sensitivity of 97.8%, specificity of 99.9%, positive predictive value of 88.2%, and negative predictive value of 99.9%. The majority of false-positive results were patients who underwent evacuation of a primary intracerebral hematoma.ConclusionAn ICD-9-CM algorithm based on diagnosis and procedure codes can effectively identify patients undergoing decompressive craniectomy for supratentorial stroke.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. We describe two patients, a 3-day-old newborn and a 26-year-old woman, with this unique mutation in association with a huge PDA and an aorto-pulmonary window. In addition, one showed a coarctation of the aortic arch and the other a complete interruption of the aortic arch type A; thereby expanding the spectrum of cardiac congenital heart defect of this syndrome. Each patient displayed a huge PDA and an extra-cardiovascular phenotype consistent with MSMDS. These observations exemplify that a functional alpha 2 smooth muscle actin is necessary for proper cardiovascular organ development, and demonstrate that a very exceptional congenital heart defect (aortopulmonary window) can be caused by a mutation in a gene encoding a contractile protein of vascular smooth muscle cells. © 2017 Wiley Periodicals, Inc.

Cerebrovascular defects in Foxc1 mutants correlate with aberrant WNT and VEGF—A pathways downstream of retinoic acid from the meninges

Growth and maturation of the cerebrovasculature is a vital event in neocortical development however mechanisms that control cerebrovascular development remain poorly understood. Mutations in or deletions that include the FOXC1 gene are associated with congenital cerebrovascular anomalies and increased stroke risk in patients. Foxc1 mutant mice display severe cerebrovascular hemorrhage at late gestational ages. While these data demonstrate Foxc1 is required for cerebrovascular development, its broad expression in the brain vasculature combined with Foxc1 mutant's complex developmental defects have made it difficult to pinpoint its function(s). Using global and conditional Foxc1 mutants, we find 1) significant cerebrovascular growth defects precede cerebral hemorrhage and 2) expression of Foxc1 in neural crest-derived meninges and brain pericytes, though not endothelial cells, is required for normal cerebrovascular development. We provide evidence that reduced levels of meninges-derived retinoic acid (RA), caused by defects in meninges formation in Foxc1 mutants, is a major contributing factor to the cerebrovascular growth defects in Foxc1 mutants. We provide data that suggests that meninges-derived RA ensures adequate growth of the neocortical vasculature via regulating expression of WNT pathway proteins and neural progenitor derived-VEGF-A. Our findings offer the first evidence for a role of the meninges in brain vascular development and provide new insight into potential causes of cerebrovascular defects in patients with FOXC1 mutations.