Coexistence of Pseudotumor Cerebri and Chiari Malformation Type 1

Objective:To identify different radiological markers for the diagnosis of the coexistence of pseudotumor cerebri and Chiari malformation type 1.Method:Patients who were clinically suspected to have Chiari malformation type 1 and were referred to the Department of Radiology between 2007 and 2020,and whose diagnosis was radiologically confirmed through magnetic resonance imaging(MRI),were retrospectively evaluated.A total of 49 Chiari malformation type 1 patients with both cervical and cerebral examinations and 49 control subjects of the same age and gender without a diagnosis of Chiari malformation type 1 were included in the study.In Chiari malformation type 1 diagnosed patients,the presence of pseudotumor cerebri,the presence of syringomyelia in cervical spinal MRI images,and the distance of cerebellar tonsils and obex according to McRae line were evaluated in millimeters.Result:In Chiari malformation type 1 clinically and radiologically diagnosed cases,the cerebellar tonsils and obex were located lower in patients with a radiological diagnosis of pseudotumor cerebri compared to those without,and the rate of accompanying syringomyelia appeared to be higher.However,no statistically significant difference was observed between the two groups.Conclusion:The coexistence of pseudotumor cerebri and Chiari malformation type 1 is more common than previously estimated.Different treatment protocols in the coexistence of pseudotumor cerebri and Chiari malformation type 1 emphasize the importance of making this diagnosis.Further radiological imaging studies are needed to identify different radiological markers for the diagnosis of the coexistence of pseudotumor cerebri and Chiari malformation type 1.

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.

Clinical Characteristics, Imaging Findings and Surgical Outcomes of Chiari Malformation Type I in Pediatric and Adult Patients

A growing number of children and adolescents are being diagnosed as Chiari malformation type I （CM- I ） for behavioral disorders, developmental delay, seizures, or abnormal orpharyngeal function. The aim of this study was to compare the clinical characteristics, imaging findings and surgical outcomes of CM- I in pediatric and adult patients. Between January 2014 and June 2017, 84 patients with CM- I underwent surgical treatment in our department. We divided the patients into two groups： pediatric group （n=l 1, age 〈18 years） and adult group （n=73, age 〉18 years）. Data on clinical characteristics, imaging findings, surgical outcomes, and prognosis were retrospectively reviewed and compared between these two groups. For clinical presentation, scoliosis （36.4%） and developmental delay （36.4%） were more common in pediatric patients, whereas, sensory disturbance （58.9%） and motor weakness （41. 1%） were more common in adult patients. Imaging findings showed that the incidence of hydrocephalus and craniovertebral junctional abnormalities was significantly higher in pediatric group than in adult group （P〈0.05）. Compared to adult group, pediatric group showed a better improvement or resolution of syrinx and tonsillar herniation after surgical treatments （P〈0.05）. The total Chicago Chiari Outcome Scale （CCOS） score in pediatric patients at the last follow- up was significantly higher than that in adult patients （P=0.002）. In conclusion, the clinical characteristics and imaging findings appeared to be different in pediatric and adult patients with CM- I. The surgical outcomes of pediatric patients were shown to be significantly better than those of adult patients.

Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient:A case report

BACKGROUND Neurofibromatosis type 1(NF-1)is a common autosomal dominant genetic disorder.It is characterized by café-au-lait spots and cutaneous neurofibromas.Although NF-1 typically involves the skin,nerves,bones,and eyes,vascular manifestation in the form of devastating hemorrhage can occur rarely.CASE SUMMARY We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation.She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission.The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area.Computed tomography angiography showed right lower limb arteriovenous malformation.Therefore,the patient underwent emergency right lower limb digital subtraction angiography(DSA)and vascular embolization after blood transfusions.However,after DSA,vascular embolization,and repeated blood transfusions,the anemia and right lower limb swelling and tenderness did not improve.As a result,the patient underwent right lower extremity above-knee amputation.After amputation,the patient's hemoglobin level improved significantly without blood transfusion,and she was discharged from the hospital after the incision healed.Postoperative pathological examination suggested neurogenic tumors.No other complications had occurred 1-year follow-up.CONCLUSION Vascular malformation and rupture are fatal complications of NF-1.Embolization may not provide complete relief,the patient might need to undergo neurofibroma resection or amputation.

Perinatal Outcome and Frequency of Congenital Malformations in Pregnancy Complicated with Diabetes Type 1 and Type 2

Objectives: The objectives of this study were to evaluate and compare perinatal outcomes and frequency of congenital malformations in pregnancy that are complicated with type 1 and type 2 diabetes. Study Design: This prospective study included 557 pregnant women with type 1 diabetes and 149 pregnant women with type 2 diabetes that gave birth in the Clinic for Diabetes in Pregnancy in Zagreb, from January 2000 to December 2012. Results: Women with type 2 diabetes were significantly older than women with type 1 diabetes (p < 0.003;32.8 ± 5.5 versus 29.3 ± 3.2) and they have significantly higher BMI compared to type 1 diabetes (P < 0.001;29.2 ± 6.5 versus 23.5 ± 3.8). Comparing their delivery patterns, women with type 1 diabetes were significantly more likely to give birth by caesarean section than women with type 2 diabetes (p < 0.001;466 versus 82). The offspring of women with type 1 diabetes were more likely to be delivered preterm in comparison with offspring of women with type 2 diabetes (109 versus 31). Macrosomia is recognized characteristic of pregnancies complicated by diabetes and its incidence was significantly higher in women with type 1 diabetes compared to women with type 2 diabetes (p < 0.035;174 versus 38). Neonatal malformations were higher in women with type 1 vs. type 2 diabetes (12 versus 7), but not statistically significant. Glycosylated haemoglobin (HbA1c) levels were statistically significantly higher in the first trimester (8.02% v. 6.72%), second (7.55% versus 6.27%) and third trimester (7.40% versus 6.03%) in women with type 1 and type 2 diabetes that gave birth to neonates with congenital malformations. Perinatal mortality was higher in pregnant women with type 1 diabetes than in women with type 2 diabetes (4 versus 2) but not statistically significant. Conclusion: Comparing perinatal mortality and frequency of congenital malformations in women with type 1 and type 2 diabetes, we didn’t find any important statistical differences. There is no significant difference in complication for babies of women with type 1 and type 2 diabetes, and it is likely that the most important causative factor is a high maternal blood glucose concentration.

Chiari Malformation Type 1 in Adults Managed by Surgical Decompression: New Prospective

Aim of the work: This study aims to assess the value of the surgical management in the improvement of the symptoms & signs of patients with Chiari malformation type 1 and radiological follow up in adults. Patients and methods: This study included 30 consecutive patients with Chiari malformation type I who were indicated for surgery at neurosurgery department. Data were collected prospectively from the involved patients who were evaluated preoperatively and underwent evaluation by CT scanning of the brain & skull and MRI imaging of the brain and spine. CT and MRI were done as the routine follow up investigations for all patients. We operated through midline suboccipital craniectomy, durotomy in y shaped manner, shrinkage of cerebellar tonsils by bipolar electrocautery, duroplasty by fascia lata graft, watertight closure. Results: The assessment from E. J. N. S. (Egyptian Journal of Neurosurgery) vol. 24 no. 2 June 2009 used for evaluating the patients clinically. 18 patients reported good outcome, 6 fair, 6 poor. We evaluated the size of the syrinx if present preoperative in follow up. 15 (50%) patients showed marked reduction (more than or equal to 60%) in size of syrinx, 3 (10%) mild reduction (less than or equal to 30%) in size and 12 (40%) with no change. Conclusion: The Chiari type 1 malformation constitutes a controllable malformation with good outcomes. With current microsurgical techniques, the results of the bony decompression and duroplasty became excellent. Before undergoing surgical treatment for CM-I, symptomatic patients and their families should be given clear information about the success of treatment and potential complications.

Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

经会阴直肠浆肌层无张力修补术治疗女童后天性直肠舟状窝瘘

目的探讨经会阴直肠浆肌层无张力修补术治疗后天性直肠舟状窝瘘的效果。方法回顾性分析2016年5月~2023年11月97例后天性直肠舟状窝瘘临床资料。手术年龄6个月~11岁,中位年龄3岁。经会阴入路,游离并切除瘘管,充分游离直肠前壁,5-0 PDS线横向连续无张力缝合直肠浆肌层修补瘘口,连续缝合加固,纵向连续缝合会阴肌层和皮肤,肛管牵开器或小拉钩暴露内瘘口位置,5-0 PDS连续缝合黏膜层。术后保留肛管和尿管5~7天,并静点抗生素治疗。结果手术时间(60.5±9.0)min,瘘管直径(5.2±2.1)mm,住院时间(7.4±1.9)d。随访时间4.5月~8.5年,中位时间4.25年。92例(94.8%)瘘口愈合,会阴外观满意,大便通畅,排便规律;5例(5.2%)术后5~10天瘘复发,其中2例3%硼酸或康复新液坐浴3周愈合,2例二次手术修补愈合,1例二次瘘修补术后再次复发。结论经会阴直肠浆肌层无张力瘘修补术治疗女童后天性直肠舟状窝瘘,简单,安全,有效。

枕下减压及枕大池重建治疗Arnold-ChiariⅠ型畸形合并脊髓空洞症40例

目的：探讨枕下减压及枕大池重建治疗Arnold—ChiariI型畸形（ACM—I）合并脊髓空洞症（SM）的效果。方法：显微镜下对40例ACM—I合并SM患者行后颅窝小骨窗枕下减压，改善脑脊液循环，并枕大池重建。结果：术后复查MtlI示小脑扁桃体上抬至枕骨大孔水平，枕大池较前扩大。随访3～30个月，无死亡病例，临床症状改善35例，无变化5例，有效率87．50％；脊髓空洞缩小者33例，无变化7例，有效率82．50％。结论：枕下减压及枕大池重建是治疗ACM—I合并SM的有效方法。

硬膜外层剥离联合人工硬膜贴敷治疗成人Arnold-Chiari畸形Ⅰ型合并脊髓空洞的初步探讨

目的探讨硬膜外层剥离技术联合人工硬膜贴敷在Arnold-Chiari畸形Ⅰ型合并脊髓空洞的治疗效果。方法分析86例Arnold-Chiari畸形Ⅰ型合并脊髓空洞患者的临床资料,根据硬膜处理方式,分为观察组(硬膜外层剥离联合人工硬膜贴敷32例)、对照1组(硬膜外层间断划开减张21例)、对照2组(硬膜扩大成形33例),对比观察组与对照组在术中超声、手术时间、脊髓空洞变化、神经功能改善、术区感染、术区积液、脑脊液漏、住院时间等指标的差异。结果三组患者均无新发神经功能缺损症状,无术后瘫痪、呼吸功能衰竭、死亡病例发生。三组间术后脊髓背侧脑脊液流速峰值、电生理监测、脊髓空洞缩小、住院时间、术区感染、术区积液及脑脊液漏比较,差异有统计学意义(P<0.05);三组间神经功能改善方面、手术时间比较,差异无统计学意义(P>0.05)。在术后脊髓背侧脑脊液流速峰值、脊髓空洞缩小比较中:观察组与对照1组差异有统计学意义(P<0.05),与对照2组差异无统计学意义(P>0.05);在电生理监测、住院时间、术区感染、术区积液、脑脊液漏比较中:观察组与对照1组差异无统计学意义(P>0.05),与对照2组差异有统计学意义(P<0.05)。结论应用硬膜外层剥离联合人工硬膜贴敷治疗Arnold-Chiari畸形Ⅰ型合并脊髓空洞,较传统处理方式可靠、安全、有效。

先天性骨骼畸形胎儿的超声诊断和遗传学分析

目的:分析先天性骨骼畸形胎儿的超声诊断率及遗传学分析。方法:回顾性纳入2020年6月-2022年6月于本院确诊的胎儿先天性骨骼畸形的92例孕妇临床资料,结合后续诊疗资料对超声诊断结果进行分类分析;孕妇行染色体微阵列分析技术(CMA)分析并根据结果分为致病性(pCNVs)、良性CNVs和临床意义不明性(Vous)3种类型,展开遗传学诊断。结果:产前超声诊断总正确率为95.7%(88/92),与最终诊疗结果无统计学差异(P>0.05);92例孕妇均存在不同程度的CNVs,CNVs(3.28±1.15)个,CNVs片段大小(3.78±1.47)Mb,其中19例为pCNVs类型、59例为良性CNVs类型、14例为Vous类型;3种CNVs类型孕妇基本资料无差异(P>0.05);pCNVs及Vous类型孕妇心/胸比增大(63.2%、71.4%)及股骨长/腹围减少(84.2%、57.1%)发生率均高于良性CNVs类型孕妇(22.0%、25.4%)(均P<0.05);经logistic回归分析,心/胸比增大及股骨长/腹围减少是发生pCNVs的独立危险因素(P<0.05)。结论:产前超声检查诊断胎儿先天性骨骼畸形具有准确度高、安全有效的特点,且与CMA诊断结果的符合性较好。

超声多切面检查在孕早期胎儿唇腭裂诊断中的应用研究

分析孕早期胎儿唇腭裂诊断中应用超声多切面检查的效果。选取2019年9月—2022年7月在贵港市妇幼保健院接受孕早期胎儿唇腭裂检查的8000例孕妇为研究对象,将接受孕早期颈项透明层、孕中期Ⅲ筛查等检查的孕妇纳入对照组,接受常规检查联合超声多切面检查的孕妇纳入研究组,比较两组检查方案的应用效果。结果显示,研究组的诊断符合率高于对照组,组间数据对比差异具有统计学意义(P<0.05);研究组的漏诊率低于对照组,组间数据对比差异具有统计学意义(P<0.05)。研究发现,在诊断孕早期胎儿唇腭裂时,应用超声多切面检查,可以显著提升诊断的准确率,保证孕妇的妊娠结局,从而为临床制订治疗方案提供依据,具备较高的临床应用价值,适合推广。

Clinical Efficacy of Minimally Invasive Subpial Tonsillectomy(MIST)for Treatment of Chiari Malformation(TypeⅠ)with Syringomyelia

Background To investigate the clinical efficacy of minimally invasive subpial tonsillectomy(MIST)in the treatment of Chiari malformation(type I)with syringomyelia.Methods A total of 209 Chiari malformation(type I)patients with syringomyelia were studied.The patients were grouped based on the syrinx diameter changes:complete disappearance group(48 patients),obvious shrinkage group(147 patients),and non-obvious shrinkage group(14 patients).The Chicago Chiari Outcome Scale(CCOS)was used to compare clinical data of the three groups of patients before treatment.The correlations between disease duration and syrinx diameter changes as well as post-treatment clinical symptoms were analyzed.The related factors of efficacy were analyzed.Results Age and disease duration were the oldest/longest in the non-obvious shrinkage group,and the youngest/shortest in the complete disappearance group(P<0.05).The maximum diameter reduction of syrinx was the greatest in the complete disappearance group,and the smallest in the non-obvious shrinkage group(P<0.05).The proportions of patients with hypoesthesia,limb weakness,and muscle atrophy were the largest in the non-obvious shrinkage group,and the smallest in the complete disappearance group(P<0.05).The CCOS score were the highest in the complete disappearance group,and the lowest in the non-obvious shrinkage group(P<0.05).There were statistically significant(P<0.05)negative correlations between disease duration and maximum diameter reduction of syrinx,CCOS pain score,CCOS non-pain score,CCOS functionality score,and CCOS complication score,disease duration and hypoesthesia,limb weakness,muscle atrophy,and sleep apnea.Result of multivariate stepwise regression analysis indicated that age,disease duration,and preoperative syrinx diameter were the risk factors for efficacy(P<0.05).Conclusion For patients with Chiari malformation complicated by syringomyelia,the longer the disease duration,the more difficult it is to achieve syrinx reduction and improve the clinical symptoms.“Minimally invasive subpial tonsillectomy(MIST)and cisterna magna reconstruction”is an improved surgical approach to treat Chiari malformation(cerebellar tonsil herniation).It has the advantages of small incision,less postoperative reaction,and fewer complications,and it emphasizes the reshaping and repair of cerebellar tonsils,reconstruction of cisterna magna,and restoration of cerebrospinal fluid circulation.

Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature

Neurofibromatosis type 1(NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiplerectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.

Achondrogenesis Type II in a Live Term Newborn Infant: A Case Report

Background: Achondrogenesis type II is a lethal form of osteochondrodysplasia characterized by short trunk, disproportionately large head, prominent forehead, micrognathia, extreme micromelia, anasarca, large abdomen and poor ossification of the bones. The children with achondrogenesis are usually born premature, or die in the neonatal period mostly from respiratory failure. We report the case of a live term newborn infant with achondrogenesis type II who died shortly after birth. Methods: We report a case of achondrogenesis type II in a live male newborn. Results: We report the case of a term male infant delivered to a 24-year-old woman with a chondrogenesis type II confirmed radiologically but died at age 5 days. Conclusion: Whenever a skeletal dysplasia in a fetal dwarfism is suspected, a proper work-up plan should be done to evaluate family history. A clinical, radiographic and histopathologic examination, should be done and confirmed by genetic study. Following evidence-based diagnosis, patients could be offered termination of pregnancy after counseling.

Cochlear Implant in a Patient with Arnold-Chiari Syndrome

Objective: To verify the efficacy of cochlear implantation in a patient with Arnold-Chiari syndrome. Design: Review of a medical chart from a patient with Arnold-Chiari syndrome that underwent to cochlear implant surgery. Case report: A 6 year-old female, with meningomyelocele and congenital hydrocephalus, deaf in the past 3 years, after meningitis. At that time, she used oral language with adequate speech development. Tone audiometry revealed bilateral profound sensorineural hearing loss. The MRI was compatible with the Arnold-Chiari syndrome. Cochlear implantation was performed on the left ear with MED-EL? Implant (model SONATATi100). Currently, the child is 12 year-old, performs speech therapy three times a week, with good hearing and language development. Conclusion: Despite the presence of Arnold-Chiari syndrome (Chiari type II) with neurological disorders and with ventriculoperitoneal shunt, patient had good hearing results after cochlear implant surgery.

50%乙醇栓塞治疗儿童YakesⅣ型动静脉畸形

目的 探讨50%乙醇经微导管栓塞治疗儿童YakesⅣ型动静脉畸形(AVM)的安全性和有效性。方法 回顾性分析7例YakesⅣ型AVM患儿的临床资料,局部直接穿刺病变失败后,采用微导管超选病变供血动脉推注50%乙醇,观察疗效、不良反应和并发症。结果 7例患儿均成功实施超选择性AVM栓塞术,共进行了24次栓塞。2例出现皮肤水疱,5例出现局部肿胀,未出现皮肤坏死、神经损伤等严重并发症。术后随访6~12个月,病变消退率为50%~80%,7例治疗效果达到好转。结论 50%乙醇经微导管栓塞治疗儿童YakesⅣ型AVM安全有效,为局部直接穿刺失败的患者提供了补救治疗方式。

Chiari 1型畸形的诊治分析(附99例报道)

目的 探讨Chiari 1型畸形(C1M)的诊断、治疗方法及其疗效。方法 回顾性分析2015年2月至2022年6月收治的99例C1M的临床资料。19例采用保守治疗组,80例采用手术治疗。所有病人随访1年。结果 保守治疗19例中,症状改善2例(10.5%),无改善16例(84.2%),恶化1例(5.3%)。手术治疗80例中,症状改善69例(86.3%),无改善10例(12.5%),术后因急性呼吸衰竭死亡1例(1.2%)。结论 C1M的诊断主要依靠临床表现及影像学表现;以手术治疗为主,疗效显著。

86例Chiari畸形Ⅰ型合并脊髓空洞症患者手术疗效及预后分析

目的研究Chiari畸形Ⅰ型(CM-Ⅰ)合并脊髓空洞症患者接受后颅窝减压合并小脑扁桃体切除术(PFDRT)的效果,探究影响患者预后的相关因素。方法选择2016年1月—2022年2月郑州大学第一附属医院神经外科采用PFDRT治疗的成年CM-Ⅰ合并脊髓空洞症患者86例,分析患者手术前后的临床特征、影像学特征以及随访资料。使用芝加哥Chiari结局量表(CCOS)作为患者临床预后的评估指标,患者预后相关影响因素的分析则采用单因素及多因素Logistic回归。结果该组临床治愈72例(83.72%),脊髓空洞完全消失12例(13.95%),脊髓空洞好转79例(91.86%);术后发热14例(16.28%),枕下积液5例(5.81%)。术后患者影像学指标较术前均有显著改变(P<0.001),大多数患者术后临床症状较术前改善明显(P<0.05)。多因素Logistic回归分析均显示病程和小脑相关症状是患者临床治愈的危险因素,病程越长的患者预后越差,有小脑相关症状的患者预后较差。结论PFDRT是治疗CM-Ⅰ合并脊髓空洞症患者的有效手段,长病程以及小脑相关症状均影响患者预后,对于有临床症状的CM-Ⅰ合并脊髓空洞症患者应该尽早治疗。

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