A Successful Pregnancy Outcome after Surgical Decompression of Type I Arnold-Chiari Malformation

Type I Arnold-Chiari malformation (ACM) usually presents in adulthood and consists of a downward displacement of the cerebellar tonsils through the foramen magnum. A 25-year-old woman presented with a 5-month history of headache associated with blurred vision, tinnitus and sickness. Imaging recognised the need for surgical intervention, but whilst awaiting for surgery she fell pregnant. Considering the risks of neurological deterioration, the woman underwent surgical decompression of type I ACM at 15 weeks gestation. She subsequently presented with progressively worsening headaches during late pregnancy from 35 weeks. The obstetric plan was initially induction of labour at term but since the onset of worsening symptoms, this date was brought forward to 39 + 1 weeks gestation. She proceeded to have a normal delivery with no neonatal complications and an uneventful puerperium followed. Since the delivery, the patient reported fewer symptoms, showed no signs of neurological deficit and a repeat magnetic resonance imaging of the head showed good relief of neural compression. This case illustrates how judicious selection of the appropriate mode of delivery of women following surgically corrected ACM and a multidisciplinary approach is critical in the successful management of the antepartum period and labour.

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.

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.

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.

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.

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.

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.

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.

Cine PC-MRI技术在Arnold-Chiari畸形手术疗效评估中的应用

目的探讨相位对比电影-磁共振成像(Cine PC-MRI)技术在小脑扁桃体下疝(Arnold-Chiari)畸形手术疗效评估中的应用。方法选取2018年8月—2022年9月期间多中心收集的65例行Arnold-Chiari畸形手术治疗的患者作为研究对象。术后均随访6个月。比较患者术前、术后6个月的预后、生活质量、寰齿间距(ADI)值、脊髓空洞直径、后颅窝斜坡长度、枕骨大孔横径、后颅窝高径长度及脑脊液流速,随访期间的并发症情况。结果术后6个月,患者芝加哥Chiari结果量表(CCOS)评分及健康相关生活质量评分(HRQoL)高于术前(P<0.05);随访期间,有3例进行枕大池重建术的患者伤口发生脑脊液漏,给予腰大池引流,7d后伤口愈合良好。术后6个月,患者寰齿间距(ADI)值及脊髓空洞直径低于术前;后颅窝斜坡长度及后颅窝高径长度长于术前;桥脑延髓池层面、中脑导水管层面及颈椎间盘层面的每搏输出量(SV)、平均流量(MF)均高于术前;头向峰值流速(Vumax)、足向峰值流速(Vdmax)均低于术前(P<0.05)。结论Arnold-Chiari畸形患者经外科手术治疗可有效改善预后并提高生活质量,但行枕大池重建术时要注意防范脑脊液漏的发生,而Cine PC-MRI技术可为Arnold-Chiari畸形患者手术治疗疗效评估提供有效依据。

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.

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.

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.

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]

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.

Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case

Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.

Split Hand/Foot Malformation about Two Family Cases

Split hand/foot malformation (SHFM), formerly known as ectrodactyly is a rare congénital anomaly, its incidence varies from 1/8.500 to 1/25.000 live birth. It mainly affects the development of the limbs, its clinical variability is standard, can present as an isolated feature or as a syndrome associated with other congenital anomalies. Our objective was to present the two cases of SHFM, and to review the literature on the clinical aspects and discuss a probable origin. The father went to school and is a driver because the malformations concerned only the fingers, were less severe, and did not prevent the realization of certain simple gestures of the daily life. On the other hand, the malformations of the fingers of the newborn were severe and the absence of the thumbs compromised the later prehension function. Also the association of a microglossia and a cleft palate contributed to a weight loss that justified hospitalization. The clinical presentation of split hands and feet is variable and the prognosis depends on the type of anomaly. Familial cases suggest a probable genetic origin. Genetic testing is necessary to establish genetic counseling.

Macroscopic Congenital Malformations at the Institute of Nutrition and Child Health (INSE)

Introduction: A congenital malformation is defined as a morphological abnormality of an organ or body region resulting from an abnormal developmental process during the formation of the embryo or fetus. Depending on their type, location and size, malformations can cause functional, psychological and aesthetic defects. The aim of this study is to document the frequency of congenital malformations, describe the characteristics of malformed newborns and their biological mothers, and identify the different types of malformations presented by newborns at the INSE. Methods: Descriptive cross-sectional study of clinically visible malformed newborns. It was carried out from January 1, 2021 to January 1, 2022 at the INSE neonatology unit. Epi info version 3.1 software was used for data entry and analysis. Results: Of a total of 2332 neonates hospitalized during the study period, 81 (3.5%) cases had at least one clinically visible congenital malformation. Nearly 84% had an age ≤ 7 days at the time of admission. The male sex was most concerned (60.5%). Newborns referred by a health facility accounted for 84%. Malformations of the digestive system accounted for 30.9% of cases, followed by those of the limbs (19.8%) and poly malformative syndrome (19.8%). Conclusion: This study shows that congenital malformations exist and are frequent in Guinea. Our results could therefore be the starting point for the future establishment of a national register of congenital malformations.

Congenital Cystic Adenomatoid Malformation: A Case Report with Clinical, Radiological, Histological, and Surgical Features

Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases.