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...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.展开更多
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 ...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.展开更多
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 stu...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.展开更多
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,bone...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.展开更多
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 ...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.展开更多
<strong>Aim of the work:</strong> 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 ...<strong>Aim of the work:</strong> 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.<strong> Patients and methods: </strong>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. <strong>Results: </strong>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. <strong>Conclusion:</strong> 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.展开更多
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 wh...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.展开更多
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)pati...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.展开更多
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 hav...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.展开更多
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 ...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.展开更多
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 surg...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.展开更多
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
文摘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.
文摘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.
基金This project was supported by grants from the National Natural Science Foundation of China (No. 81702478 and No. 81270865) and China Postdoctoral Science Foundation (No. 2016M600596).
文摘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.
文摘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.
文摘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.
文摘<strong>Aim of the work:</strong> 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.<strong> Patients and methods: </strong>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. <strong>Results: </strong>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. <strong>Conclusion:</strong> 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.
基金This study is supported by 2004-2006 important clinic studies of medical institutions belonging to the Health Care Ministry of China
文摘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.
文摘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.
文摘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.
文摘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.
文摘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.
基金This study was supported by grants from National Natural Science Foundation of China (No. 81071215), Natural Science Foundation of Heilongjiang Province of China (No. D201062), Foreign Collaboration Project of Heilongjiang Province (No. WB10B104), and Science Foundation of the First Affiliated Hospital of Harbin Medical University (No. 2011BS13 ).
文摘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