SUMMARY Hemophilia A is aninherited bleeding disorder, lack of coagulation factorⅧ( FⅧ) , and if combined with intracranial malignant tumor, the operation risk is very high. Department of Pediatric Sur-gery in Peking University First Hospital used coagulation factor replacement therapy, succeeded in the operation of 2 cases of intracranial malignant tumor with hemophilia A in children, with no abnormal bleeding events. The establishment of the multi subject cooperation group before operation, good preoper-ative preparation, enough alternative factors, and close postoperative monitoring, are the key to the suc-cessful treatment.

Objective To summarize the experience of the ventriculoperitoneal shunt in treating children with methylmalonic aciduria combined with hydrocephalus,and to assess the clinical value.Methods From September 2012 to May 2016,a total of 12 patients with methylmalonic aciduria combined with hydrocephalus in Peking University First Hospital were enrolled,including 7 boys and 5 girls.All the 12 patients underwent ventriculoperitoneal shunt.Drug therapy was performed after surgery.The clinical manifestations and imaging findings were used as the basis for adjusting the pressure of the diverter valve appropriately.The clinical condition of patients were evaluated retrospectively.The patients' clinical symptoms,signs,imaging materials,surgical complications and postoperative prognosis were analyzed.Results All the cases were followed up for 3 to 36 months,no death case and no serious postoperative complications of hydrocephalus occurred.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement stopped.The anterior fontanelle tension decreased significantly.Setting-sun sign of eyes disappeared.One out of 4 cases with convulsion and epilepsy was relieved after the operation.Seven cases of poor vision or vision loss,postoperative visual acuity were improved though not recover to normal eyesight.One case of the children with hearing loss,postoperative hearing recovered.During the follow-up period,the head CT showed that the ventricle was narrowed significantly,interstitial brain edema improved obviously.Conclusion Ventriculoperitoneal shunt is a effective method for treating children with methylmalonic aciduria combined with hydrocephalus,which is beneficial for patients with these diseases.

Objective:The clinical manifestations, types of gene mutations, therapeutic effects and prognostic characteristics of 15 children with cblC type methylmalonic acidemia (MMA) and hydrocephalus were analyzed to improve the clinical understanding of the disease, so as to provide a basis for the treatment of the disease.Methods:From April 2015 to January 2019, 15 patients with MMA and hydrocephalus in Department of Pediatric Surgery, Peking University First Hospital were enrolled, and all gene detection showed clbC type.All the 15 patients underwent ventriculoperitoneal shunt.After surgery, the clinical manifestations and imaging findings were applied as the basis to adjust the pressure of the diverter valve appropriately.Clinical data and gene mutation characteristics of 15 children with cblC type and hydrocephalus were retrospectively analyzed, and the therapeutic effects and prognosis were summarized and analyzed as well.Results:There were 8 males (53.3%) and 7 females (46.7%), aged from 2 to 33 months.All the cases were followed up from 11 to 55 months, without death case and serious postoperative complications of hydroce-phalus.The head circumference of 3 cases (20.0%) was in the normal range, 1 case (6.7%) was greater than the normal range, and 11 cases (73.3%) were less than the normal range.Four patients (26.7%) were transferred to the pediatric intensive care unit after surgery.c.609G>A mutation was the most common in this study, with 7 cases (46.7%) of c. 609G>A homozygous mutation, and 5 cases (33.3%) of c. 609G>A heterozygous mutation.Clinical symptoms of intracranial hypertension were relieved or disappeared.The head circumference progressive enlargement was stopped.The anterior fontanelle tension greatly decreased, all " setting-sun" sign of eyes disappeared, and vision loss and hearing loss were better compared with the pre-operation.Four cases (26.7%) displayed normal intelligence and exercise, and 11 cases (73.3%) were left with mild to severe psychomotor retardation.During the follow-up pe-riod, the head CT showed that the ventricle was remarkably narrowed, and interstitial brain edema obviously improved.Conclusions:Ventriculoperitoneal shunt in the treatment of cblC type MMA with hydrocephalus has positive effects.The head circumference of most cblC type MMA with hydrocephalus is less than the normal range.c.609 G>A is the most common mutation in cblC type MMA with hydrocephalus.Perioperative " metabolic crisis" can result in serious complications.

Objective To analyze the categories of co-existed nervous system anomalies in children with meningomyelocele in order to consummate the treating strategy for meningomyelocele.Methods Sixty-nine children who had complete clinical data diagnosed as meningomyelocele in Department of Pediatric Surgery,Peking University First Hospital from Jan.2005 to Jun.2013,were retrospectively analyzed.Preoperative spinal MRI was routinely performed.Ultrasonagraphy,CT,MRI or combination of the 2 measures were adopted to evaluate the brain.Microscopically excision of the sac,exploration of the spinal canal,brisement of the tethered cord and meningomyelocele repair were routine operation procedures.Other lesions detected during operation were treated accordingly.MRI findings and intraoperative findings were also compared.Results Preoperative spinal MRI found 59 cases of cone bit,24 cases of syringomyelia,20 cases of mild syringomyelus,14 cases of diastematomyelia,6 cases of intraspinal cyst,6 cases of intraspinal lipoma.Nineteen cases of hydrocephalus were diagnosed by iconography,among which 5 cases complicated with caudal herniation of cerebellar tonsils.Seventeen cases of diastematomyelia,8 cases of intraspinal lipoma,6 cases of intraspinal cyst were detected and treated during operation.Three cases of intraspinal lipoma and 3 cases of osseous diastematomyelia were ignored by preoperative MRI reports.Two cases of intraspinal epidermoid cyst were misdiagnosed as general cyst.One case of teratoma who was not found on MRI was detected by operation and resected.Syringomyelus or syringomyelia was found in all the children complicated with hydrocephalus.Sixty-one cases(88.4％) among the 69 cases complicated with other nervous system anomalies.All of patients were followed up for 4-71 months,averaged 23.8 months.All of patients had no new symptom.Conclusions Children with meningomyelocele often complicate with multiple nervous system anomalies.Preoperative brain and entire spinal iconography,together with thorough intraoperative exploration,are very important so as to avoid omission the co-existed lesions during operation.