Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation A diffusion tensor imaging study

We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients＇ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg＇s balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.

Y-shaped shunt for the treatment of Dandy-Walker malformation combined with giant arachnoid cysts:A case report

BACKGROUND Dandy-Walker malformation(DWM)was first reported in 1914.In this case report,a pediatric case was complicated with giant and isolated arachnoid cysts in the right cerebellar hemisphere along with the typical DWM.CASE SUMMARY The patient was at 20 mo old boy,with the complaint of staggering for more than 2 mo.He was admitted to the hospital due to high intracranial pressure and staggering.At admission,the patient had typical manifestations of high intracranial pressure,including vomiting,poor appetite and feeding difficulty.Physical examination revealed increased head circumference,closed anterior fontanelle,unstable standing,staggering,leaning right while walking and ataxia.After admission,he was diagnosed with DWM accompanied by giant isolated arachnoid cysts in the posterior fossa.He underwent Y-shaped three-way valve repair for treating differential pressure between the supratentorial hydrocephalus and the subtentorial arachnoid cysts at once.The child recovered well after the surgery.CONCLUSION In this case,supratentorial and subtentorial shunts were placed,which solved the problem of differential pressure between the supratentorial and subtentorial parts simultaneously.This provides useful information regarding treatment exploration in this rare disease.

DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway

Wnt signaling pathways,including the canonical Wnt/β-catenin pathway,planar cell polarity pathway,and Wnt/Ca2+signaling pathway,play important roles in neural development during embryonic stages.The DVL genes encode the hub proteins for Wnt signaling pathways.The mutations in DVL2 and DVL3 were identified from patients with neural tube defects(NTDs),but their functions in the pathogenesis of human neural diseases remain elusive.Here,we sequenced the coding regions of three DVL genes in 176 stillborn or miscarried fetuses with NTDs or Dandy-Walker malformation(DWM)and 480 adult controls from a Han Chinese population.Four rare mutations were identified:DVL1 p.R558 H,DVL1 p.R606 C,DVL2 p.R633 W,and DVL3 p.R222 Q.To assess the effect of these mutations on NTDs and DWM,various functional analyses such as luciferase reporter assay,stress fiber formation,and in vivo teratogenic assay were performed.The results showed that the DVL2 p.R633 W mutation destabilized DVL2 protein and upregulated activities for all three Wnt signalings(Wnt/β-catenin signaling,Wnt/planar cell polarity signaling,and Wnt/Ca2+signaling)in mammalian cells.In contrast,DVL1 mutants(DVL1 p.R558 H and DVL1 p.R606 C)decreased canonical Wnt/β-catenin signaling but increased the activity of Wnt/Ca2+signaling,and DVL3 p.R222 Q only decreased the activity of Wnt/Ca2+signaling.We also found that only the DVL2 p.R633 W mutant displayed more severe teratogenicity in zebrafish embryos than wild-type DVL2.Our study demonstrates that these four rare DVL mutations,especially DVL2 p.R633 W,may contribute to human neural diseases such as NTDs and DWM by obstructing Wnt signaling pathways.

A Dandy-Walker malformation associated with ganglioglioma

To the Editor: The Dandy-Walker malformation (DWM) is a rare congenital malformation involving the posterior fossa. Diagnosis of the DWM is based on a series of characteristic neuroimaging findings, which include complete or partial agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlarged posterior fossa.[1] Several malformation syndromes and cytogenetic abnormalities have been associated with the DWM. However, the co-existence of the DWM and neoplasms is rare.[2] There are rare reports of the co-existence of the DWM and ganglioglioma.

Calvarial defects and Dandy-Walker malformation in association withneurofibromatosis type 1

Neurofibromatosis type 1(NF1)is an autosomal dominant disorder in which the nerve tissue grows tumors that may be benign and may cause serious damage by compressing nerves and other tissues.The NF1 gene

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.

Biopsychosocial Impact of Lymphaticovenous Malformations on Children and Their Parents: Emphasizing a Multidisciplinary Approach

Introduction: Lymphaticovenous malformations (LVM) are benign congenital anomalies of the venous and lymphatic systems, frequently presenting as complex masses in the head and neck region of children. While the clinical features of LVM are well-documented, there is a lack of comprehensive studies addressing their holistic impact on affected children and their families. Objectives: This qualitative study explores the physical, psychological, and social challenges faced by children with head and neck LVM and the emotional and financial burdens experienced by their parents. It also evaluates the effectiveness of a multidisciplinary approach in managing these challenges. Methods: Over seven months, data were collected through monthly multidisciplinary team (MDT) clinics, bi-monthly tele-clinics, and continuous email communication. The MDT included interventional radiologists, surgeons, psychologists, physiotherapists, nurse specialists, and administrative staff. Additional specialists were consulted as needed. The study focused on children’s physical symptoms (appearance concerns, pain, infections, bleeding, heaviness, tongue involvement), psychological and social issues (bullying, self-esteem, social isolation, school absenteeism), and parental concerns. Management strategies and their outcomes were also documented. Results: Children with LVM experienced significant distress due to visible deformities, chronic pain, and recurrent infections, leading to social isolation, bullying, and low self-esteem. Parents reported constant stress over their child’s well-being, concerns about social interactions, and financial strain from taking time off work for care and medical appointments. Interventions—including surgical procedures and interventional radiology treatments like sclerotherapy, counseling, laser treatments, and camouflage techniques—resulted in reported improvements across physical, psychological, and social domains. Conclusions: LVM significantly impacts the biopsychosocial well-being of both children and their parents. A multidisciplinary approach is essential for effective management, addressing not only the medical but also the psychological and social needs of affected families. Future studies with larger, multi-center cohorts are recommended to further validate these findings and explore new therapeutic strategies.

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.

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.

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.

胎儿Dandy-Walker畸形的产前超声诊断

目的 研究产前超声检查在胎儿Dandy Walker畸形诊断中的价值。方法 回顾性总结 5例胎儿Dandy Walker畸形的超声表现 ,以及相关的胎儿中枢神经系统 (CNS)和CNS外畸形。结果 5例胎儿产前超声检查均可见Dandy Walker畸形的典型超声表现 ,其中 4例伴发CNS外畸形。结论 产前超声检查可以有效检出胎儿Dandy Walker畸形。

产前三维超声定量分析Dandy-Walker综合征胎儿小脑蚓部的辅助诊断价值

目的探讨产前三维超声第三平面成像方法定量分析Dandy-Walker综合征胎儿小脑蚓部发育的辅助诊断价值。方法采用经腹三维超声方法观察和比较571例正常中晚孕期胎儿和39例Dandy-Walker综合征胎儿小脑蚓部,采用小脑蚓部最大切面面积指标分析正常胎儿小脑蚓部面积与孕周的关系,比较正常与异常组测量数据。结果经腹三维超声第三平面成像方法成功检测529例正常胎儿小脑蚓部最大切面面积,其测值与孕周呈正相关(r2=0.854,P<0.05)。39例Dandy-Walker综合征包括14例Dandy-Walker畸形(DWM)和25例Dandy-Walker变异型(DWV),其中12例DWM和2例DWV未显示蚓部结构,其余蚓部切面面积均明显小于相应孕周正常测值。结论三维超声第三平面成像能够克服二维扫查难以获取胎儿头颅正中矢状切面的不足,得到满意的小脑正中矢状切面图像,有助于分析正常和异常小脑蚓部发育的变化规律,为DWS的产前诊断提供一个新的量化指标。

超声诊断胎儿Dandy-Walker畸形及其合并畸形

目的探讨超声对Dandy-Walker畸形(DWM)及合并其他异常的诊断价值。方法回顾性分析我院诊断为DWM的64胎胎儿的超声资料。结果 64胎中典型DWM 5胎,其中3胎合并其他部位畸形;变异型DWM 59胎,其中44胎合并其他部位畸形。5胎典型DWM中,4胎引产,1胎宫内死亡;变异型DWM中,47胎引产,6胎宫内死亡,2胎出生,4胎失访。变异型DWM常见合并畸形包括心脏畸形(13/59,22.03%)、消化系统畸形(10/59,16.95%)、颜面部畸形(9/59,15.25%)、肾脏畸形(8/59,13.56%)、脑积水(6/59,10.17%)、骨骼系统畸形(6/59,10.17%)。结论 DWM合并其他部位的畸形发生率较高,胎儿预后较差;产前超声检查能够初步诊断胎儿DWM。

Dandy-Walker综合征的CT诊断

目的：探讨Ｄａｎｄｙ－Ｗａｌｋｅｒ综合征的病因、病理及ＣＴ诊断问题。材料与方法：对１０例患者头部ＣＴ资料及临床资料进行了回顾性分析。结果：典型者２例，ＣＴ表现为第四脑室极度扩张或后颅凹巨大囊肿与第四脑室呈宽口交通，小脑蚓部缺如、合并重度脑积水。变异型８例，ＣＴ表现为第四脑室下部呈袋状憩室向后突出，小脑下蚓部发育不良，一般无脑积水。结论：ＣＴ扫描对本病的诊断有很大的价值。