Resection of Intracranial Giant Cavernous Malformation: Case Report and Literature Review

Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.

Appendiceal bleeding caused by vascular malformation: A case report

BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding.

Giant vascular malformations invading the skull:A case report

BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.

Ectopic recurrence following treatment of arteriovenous malformations in an adult:A case report and review of literature

BACKGROUND Digital subtraction angiography(DSA),the gold standard for the diagnosis of intracranial arteriovenous malformations(AVMs),can show clean nidus resection,leading to a perceived cure.Most cases of intracranial AVM recurrence have been reported in pediatric patients.The conventional understanding indicates that AVMs arise when abnormal blood vessels develop between the fourth and eighth weeks of embryonic development,which coincides with the typical period of blood vessel formation in the brain.As such,recurrent ectopic AVM are rare in adults.CASE SUMMARY Herein,we present the case of a 31-year-old adult with a history of an intracranial AVM originally diagnosed with a symptomatic de novo cerebellar AVM formation.Recurrence was observed five years following angiographically-confirmed excision of the initial AVM.DSA performed prior to initial AVM resection indicated no cerebellar abnormalities.Moreover,the recurrent arteries exhibited differences in arteries and draining veins.In addition to reporting this case,we analyzed six previously-reported adult patients with similar ectopic recurrent AVMs.These cases are summarized to review and explore the potential causes of ectopic AVM recurrence in adults,which increase the likelihood of acquired AVM.CONCLUSION The clinical course of the reported patients demonstrated the possibility of ectopic AVM recurrence in adults.The median time between the diagnosis of the initial AVM and the occurrence of ectopic recurrent AVM in adults was 11 years(range:5–20 years).Magnetic resonance imaging follow-up for more than 10 years may be required in adult AVM-treated patients.

Multimodal imaging for the diagnosis of oligodendroglioma associated with arteriovenous malformation:A case report

BACKGROUND The rare co-occurrence of oligodendroglioma and arteriovenous malformation(AVM)in the same intracranial location.CASE SUMMARY In a 61-year-old man presenting with progressive headaches,is described in this case study.Preoperative multimodal imaging techniques(computed tomography,magnetic resonance imaging,magnetic resonance spectroscopy,digital subtraction angiography,and computed tomography angiography)were employed to detect hemorrhage,cystic and solid lesions,and arteriovenous shunting in the right temporal lobe.The patient underwent right temporal craniotomy for lesion removal,and postoperative pathological analysis confirmed the presence of oligodendroglioma(World Health Organization grade II,not otherwise specified)and AVM.CONCLUSION The preoperative utilization of multimodal imaging examination can help clinicians reduce the likelihood of misdiagnosis or oversight of these conditions,and provides important information for subsequent treatment.This case supports the feasibility of craniotomy for the removal of glioma with AVM.

Sclerotherapy in a case of multiple glomuvenous malformation

In this study, we present a representative case of multiple glomuvenous malformation in a 12-year-old female patient. Approximately five years ago, the patient developed multiple blue-purple papules and plaques on her hypogastrium and right thigh, which progressively enlarged and presented tenderness. Histopathological examination confirmed the diagnosis of glomuvenous malformation. Following two injections of lauromacrogol, a significant improvement was observed in the lesions, including a resolution of tenderness. These findings suggest that sclerotherapy not only exhibits evident therapeutic efficacy but also effectively alleviates pain while addressing both aesthetic and therapeutic concerns.

Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation

Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not.

Cardiac Malformations in Congenital Hypothyroidism: A Case Report

Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.

CT and MRI Findings of Intracranial Cavernous Hemangioma Malformation

Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical information of 23 patients with CHM were retrospectively analyzed.Results:CT examinations were conducted in 7 cases,while MRI was utilized in 23 cases.Additionally,SWI was employed in 5 cases and enhanced imaging techniques were applied in 14 cases.Among the observed lesions,20 cases presented with a singular lesion,whereas 3 cases exhibited multiple lesions.The lesions were located in 8 frontal lobes,6 cerebellums,2 brainstems,6 temporal lobes,1 basal ganglia,3 parieto-occipital lobes,and 2 thalamus regions.The nodules appeared as quasi-circular lesions with clear or well-defined boundaries.They presented as isodense lesions on CT scans,with one lesion showing peritumoral edema.On MRI,T1-weighted imaging(T1WI)demonstrated isointense signals,while T2-weighted imaging(T2WI)showed isointense and hyperintense signals.Additionally,10 lesions exhibited a low signal ring on T2WI.Diffusion-weighted imaging(DWI)revealed nodular or isointense low signals,while susceptibility-weighted imaging(SWI)displayed enlarged areas of low signal.Fourteen lesions underwent contrast-enhanced scanning,with 2 lesions showing no obvious enhancement,1 lesion demonstrating mild to moderate enhancement,and 11 lesions exhibiting significant enhancement.Notably,6 of these enhanced lesions were surrounded by small blood vessels.Conclusion:Cavernous hemangioma malformation is more commonly found in individual cases.CT alone lacks specificity,making it prone to misdiagnosis.A more comprehensive evaluation of cavernous hemangioma malformation can be achieved through a combination of MRI,DWI,SWI,and enhanced examination,providing valuable references for clinical assessment.

Delayed versus immediate intervention of ruptured brain arteriovenous malformations:A case report

BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm.

Major Ear Aplasia and Cochleovestibular Dysplasia: Rare Congenital Malformation about a Case

Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.

The generation and properties of human cortical organoids as a disease model for malformations of cortical development

As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and manipulation.Human cortical organoids derived from human pluripotent stem cells can elaborately replicate many of the key properties of human cortical development at the molecular,cellular,structural,and functional levels,including the anatomy,functional neural network,and interaction among different brain regions,thus facilitating the discovery of brain development and evolution.In addition to studying the neuro-electrophysiological features of brain cortex development,human cortical organoids have been widely used to mimic the pathophysiological features of cortical-related disease,especially in mimicking malformations of cortical development,thus revealing pathological mechanism and identifying effective drugs.In this review,we provide an overview of the generation of human cortical organoids and the properties of recapitulated cortical development and further outline their applications in modeling malformations of cortical development including pathological phenotype,underlying mechanisms and rescue strategies.

Overview of peripheral arteriovenous malformations:From diagnosis to treatment methods

Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associated with other anomalies.Simple VMs include lymphatic,venous,capillary,and arteriovenous malformations(AVMs).AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins.This abnormal vascular communication causes arterial blood to accumulate in the venous vessels,thus resulting in venous hypertension and characteristic clinical manifestations,such as pulsation,tremors,and elevated temperature.AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs.The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms,thus complicating their management.Herein,we discuss peripheral AVMs in terms of their clinical manifestations,imaging examinations,and staging systems to provide a comprehensive reference for the treatment,evaluation methods,and follow-up procedures for this vascular anomaly.

Embolization of brain arteriovenous malformations with squid co-polymer embolic material:Initial experience

Objective:To analyze the safety and effectiveness of the ethylene-vinyl alcohol copolymer(EVOH)liquid embolic agent Squid(Emboflu,Switzerland)for the treatment of brain arteriovenous malformations.Materials and procedures:Between April 2015 and July 2017,46 embolization treatments for brain arteriovenous malformations(BAVM)were performed in 25 patients using two Squid formulations(18 and 12).Six female and 19 male patients with a mean age of 34 years(range,9–62 years)were included.A total of 46 procedures were performed.The BAVMs were classified as Spetzler-Martin gradeⅡin 4 procedures,Ⅲin 27 procedures,and 1V in 15 procedures.Among the 25 patients,15 presented with hemorrhage,5 with seizures,and 5 with headache and neurology.The BAVMs were located in the temporal lobe in 5 patients,parietal lobe in 7 patients,frontal lobe in 3 patients,posterior fossa in 6 patients,basal ganglia in 3 patients,and parasagittal lobe in 1 patient.Results:The obliteration rate of the BAVMs ranged from 10%to 100%,with a mean of 33%.Most patients underwent their first or second embolization procedure.Four patients(8%)developed intracranial bleeding post procedure,with one death(2%).One patient(2%)experienced a seizure during the procedure;however,no intracranial bleeding was observed.Seven patients(15%)experienced perforations during catheter manipulation.One case(2%)of fractured catheter was recorded,but no significant complications were observed.The average volume of copolymer injected was 0.6 ml per nidus.Thirteen procedures used the Squid-12 formulation,29 procedures used the Squid-18 formulation,and 3 procedures used a combination of Squid-12 and-18 formulations.Conclusion:Squid is a safe and effective embolic agent for treating BAVMs.

Rare portal hypertension caused by Abernethy malformation(Type IIC):A case report

BACKGROUND Abernethy malformation is a rare congenital vascular malformation with a portosystemic shunt that may clinically manifest as cholestasis,dyspnea,or hepatic encephalopathy,among other conditions.Early diagnosis and classification are very important to further guide treatment.Typically,patients with congenital portosystemic shunts have no characteristics of portal hypertension.Herein,we report an 18-year-old female with prominent portal hypertension that manifested mainly as rupture and bleeding of esophageal varices.Imaging showed a thin main portal vein,no portal vein branches in the liver,and bleeding of the esophageal and gastric varices caused by the collateral circulation upwards from the proximal main portal vein.Patients with Abernethy malformation type I are usually treated with liver transplantation,and patients with type II are treated with shunt occlusion,surgery,or transcatheter coiling.Our patient was treated with endoscopic surgery combined with drug therapy and had no portal hypertension and good hepatic function for 24 mo of follow-up.CASE SUMMARY This case report describes our experience in the diagnosis and treatment of an 18-year-old female with Abernethy malformation type IIC and portal hypertension.This condition was initially diagnosed as cirrhosis combined with portal hypertension.The patient was ultimately diagnosed using liver histology and subsequent imaging,and the treatment was highly effective.To publish this case report,written informed consent was obtained from the patient,including the attached imaging data.CONCLUSION Abernethy malformation type IIC may develop portal hypertension,and traditional nonselective beta-blockers combined with endoscopic treatment can achieve high efficacy.

A benchtop brain injury model using resected donor tissue from patients with Chiari malformation

The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability of human responses. Alternative models that replicate the 3 D architecture of the central nervous system have prompted the development of organotypic neural injury models. However, the lack of reliable means to access normal human neural tissue has driven reliance on pathological or post-mortem tissue which limits their biological utility. We have established a protocol to use donor cerebellar tonsillar tissue surgically resected from patients with Chiari malformation(cerebellar herniation towards the foramen magnum, with ectopic rather than diseased tissue) to develop an in vitro organotypic model of traumatic brain injury. Viable tissue was maintained for approximately 2 weeks with all the major neural cell types detected. Traumatic injuries could be introduced into the slices with some cardinal features of post-injury pathology evident. Biomaterial placement was also feasible within the in vitro lesions. Accordingly, this ‘proof-of-concept’ study demonstrates that the model offers potential as an alternative to the use of animal tissue for preclinical testing in neural tissue engineering. To our knowledge, this is the first demonstration that donor tissue from patients with Chiari malformation can be used to develop a benchtop model of traumatic brain injury. However, significant challenges in relation to the clinical availability of tissue were encountered, and we discuss logistical issues that must be considered for model scale-up.

Unexplained hyperammonemia and encephalopathy in the emergency department:Abernethy malformation in elderly patients

Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into two types:typeⅠis an end-to-side portocaval shunt,whereas typeⅡis a side-to-side shunt,diverting blood from the portal vein to the inferior vena cava(IVC)(Figure 1).[1]

Whole mount of adult ear skin as a model to study vascular malformations

Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.

Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

We report a three-year-old male child who presented with congenital valvular defects,right ventricular malformation,and initial developmental delay.Genome sequencing showed rare deleterious biallelic missense variants in PLD1.In his parents’second pregnancy,echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.

MEK inhibitors for the treatment of extracranial arteriovenous malformations

Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and cause ulcers,repeated hemorrhages,and even cardiac insufficiency.Primary treatment options for AVMs include surgery and interventional treatment;however,they are associated with high risk and recurrence rates.Recent studies revealed that excessive activation of the Ras/MAPK pathway can induce the formation and development of peripheral AVM,whereas MEK inhibitors can effectively control nidus progression,making them a potential novel treatment for AVM.This review provides an up-to-date overview of correlated laboratory and clinical research to provide information for further research and clinical practice.