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Introduction: Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation. Case Presentation: A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Magnetic resonance angiography and cerebral angiography showed severe stenosis of the bilateral internal carotid arteries and development of moyamoya vessels. Genetic analysis identified a heterozygous c.14576G>A (p.R4859K) mutation in RNF213. Moyamoya syndrome was diagnosed, and bilateral indirect revascularization surgery was conducted without complications and with a good postoperative course. In moyamoya syndrome associated with Williams syndrome, adequate perioperative management of both the moyamoya arteries and the cardiovascular abnormalities is important to prevent complications. Conclusion: This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications.

Unilateral lambdoid synostosis (ULS) is a rare suture anomaly and its diagnosis and treatment remain controversial. We investigated how to improve their function and morphology through the review of two cases of ULS with improved function and morphology by the same unreported operative procedure. Moreover, we discussed the diagnosis and treatment of ULS. Case 1 involved a 15-month-old female, brought for consultation because of suspected right ULS. She was diagnosed with right lambdoid and squamous synostoses and approximately 15 mm descent of the cerebellar tonsil. Thus, we performed foramen magnum decompression, first cervical vertebra laminectomy, and skull lengthening. Case 2 involved an 18-month-old female. She also consulted for suspected right ULS. Computed tomography revealed right ULS and squamous synostosis and magnetic resonance imaging showed approximately 9 mm descent of the cerebellar tonsil. We performed foramen magnum decompression and skull lengthening. Both procedures included decompression of the foramen magnum. We enforced osteotomy of the affected side of the lambdoid suture by crossing the superior sagittal sinus and added horizontal osteotomy from the superior right squamous suture to the coronal suture. Three extension devices were placed, two and one in the lambdoid and squamous sutures, respectively. After skull extension and descent of the cerebellar tonsil, exertion of the left frontal bone was improved. In cases of ULS, the squamous suture fusion and the drooping of the cerebellar tonsils can be complicated. Extending the lambdoid suture upward and downward and decompressing the posterior cranial fossa may improve the morphological and functional prognoses.

After untethering surgery of a tethered spinal cord of a tight filum terminale, patients are usually kept in the horizontal decubitus position to prevent cerebrospinal fluid (CSF) leakage. However, the optimal period for keeping these patients in this position has not been established yet. Surgical results in two groups of pediatric patients with a tight filum terminale were retrospectively analyzed. Group A was maintained in the horizontal decubitus position for 72 h and group B was managed without being kept in this position postoperatively. A total of 313 patients underwent sectioning of a tight filum terminale. Of these patients, 144 were maintained horizontally for 72 h postoperatively (group A) and 169 were managed without this position (group B). Among the patients who were maintained horizontally for 72 h, one (0.7%) developed pseudomeningocele. No patients experienced CSF leakage in this group. Among the patients who were not horizontal, one (0.6%) developed CSF leakage and one (0.6%) developed pseudomeningocele. Maintaining patients without restriction of their position does not appear to change the rate of postoperative CSF leakage or pseudomeningocele. This suggests that maintaining patients horizontally after transection of a tight filum terminale is not necessary for preventing CSF leakage.

Cohort study. Long-term urological outcomes in patients with spinal lipoma after prophylactic tethered cord release (TCR) in infancy were investigated. Children’s hospital in Yokohama, Japan. Children under one year of age with spinal lipoma who underwent TCR between 1990 and 2010 were investigated. According to Arai’s classification, lipomas other than filar lipoma were classified into four types: caudal, dorsal, transitional, and lipomyelomeningocele. The level of the conus medullaris was divided into three categories: L3-5, L5/S1, and sacral. Urological outcomes, including the need for clean intermittent catheterization (CIC), urinary incontinence, presence of renal deterioration, and the need for bladder augmentation, were investigated by both lipoma type and level of the conus medullaris. Fifty-three patients met the inclusion criteria. The median follow-up period was 14.2 years (interquartile range 9.6–17.6 years). Of the 53 patients, ten (19%) were on CIC, and six (11%) were incontinent. Overall, two patients (4%) had renal deterioration detected by DMSA renal scan, and two (4%) needed augmentation cystoplasty. Of the lipoma types, transitional type showed the worst outcomes with respect to need for CIC (54%) and urinary incontinence (38%). There were no significant differences in renal deterioration and the rate of bladder augmentation by lipoma type. No urological outcomes were significantly associated with conus level. Even after prophylactic TCR in infancy in children with spinal lipoma, 19% of patients needed CIC in long-term follow-up. Of the lipoma types, transitional type showed the worst outcomes with respect to need for CIC and urinary incontinence.

BACKGROUND In intracranial ependymoma, the effectiveness of chemotherapy and radiation therapy is unclear, and the degree of tumor removal contributes to the improvement of life prognosis. METHODS We examined ependymoma cases treated in our institution from July 1998 to March 2017. RESULTS There were 18 boys and 7 girls. The average age at the time of surgery is 5.3±3.6 years. The pathological diagnosis was Grade II for 8 cases and Grade III for 17 cases. Genetic analysis was performed in 16/25 cases (64%). Of the infratentorial cases, 10/11 cases (90.1%) were PFA and PFB were one case. Of the supratentorial cases, 3/5 cases (60%) were positive for RELA fusion. As chemotherapy, 19 patients were VCR + VP-16 + CDDP + CPA. Irradiation was performed in all cases, local irradiation (50.4–55.8Gy) in 22 cases (88%), and craniospinal irradiation in 2 cases (8%). The 7-year OS was 74.6±9% and the 7-year PFS was 59.7±10.5%. Grade III showed a short OS (p = 0.053). GTR and NTR were obtained in the first excision in 14 cases (56%), and OS and PFS were not significantly different from those in the STR group (p = 0.219, p = 0.248). GTR and NTR including 2nd-look surgery were obtained in 18 cases (72%), and significant improvement of OS was observed compared with STR group (p = 0.02). CONCLUSION Even if it is not GTR or NTR at the first operation, improvement of OS is expected by total excision after chemotherapy.

OBJECTIVEThe goal of this study was to clarify the long-term outcome of endoscopic third ventriculostomy (ETV) in pediatric hydrocephalus in light of the ETV Success Score (ETVSS), shunt dependency, and intellectual development.METHODSThe authors retrospectively analyzed pediatric patients with hydrocephalus who underwent ETV between 2002 and 2012 and who were followed for longer than 5 years as a single-center cohort. The data of the patients’ pre- and postoperative status were collected. The relationships between ETVSS and the full-scale IQ as well as shunt dependency were analyzed. The usefulness of ETVSS for repeat ETV and the change of radiological parameters of ventricle size before and after ETV were also analyzed. The success of ETV was defined as no requirement for further CSF diversion procedures.RESULTSFifty ETVs were performed in 40 patients. The average ETVSS was 61 and the success rate at 6 months was 64%. The mean follow-up was 9.9 years (5.2–15.3 years), and the long-term success rate of ETV was 50%. The Kaplan-Meier survival curve continued to show a statistically significant difference among patients with a low, moderate, and high ETVSS, even after 6 months (p = 0.002). After 15 months from the initial ETV, no patients required additional CSF diversion surgery. There was no statistical significance between ETVSS and the long-term full-scale IQ or shunt dependency (p = 0.34 and 0.12, respectively). The radiological improvement in ventricle size was not associated with better future educational outcome.CONCLUSIONSThe ETVSS was correlated with the long-term success rate. After 15 months from the initial ETV, no patients required an additional CSF diversion procedure. The ETVSS was not considered to be correlated with long-term intellectual status.

BACKGROUND In intracranial ependymoma, the effectiveness of chemotherapy and radiation therapy is unclear, and the degree of tumor removal contributes to the improvement of life prognosis. Methods: We examined ependymoma cases treated in our institution from July 1998 to March 2017. RESULTS There were 18 boys and 7 girls. The average age at the time of surgery is 5.3 ± 3.6 years. The pathological diagnosis was Grade II for 8 cases and Grade III for 17 cases. Genetic analysis was performed in 16/25 cases (64%). Of the infratentorial cases, 10/11 cases (90.1%) were PFA and PFB were one case. Of the supratentorial cases, 3/5 cases (60%) were positive for RELA fusion. As chemotherapy, 19 patients were VCR + VP-16 + CDDP + CPA. Irradiation was performed in all cases, local irradiation (50.4–55.8Gy) in 22 cases (88%), and craniospinal irradiation in 2 cases (8%). The 7-year OS was 74.6 ± 9% and the 7-year PFS was 59.7 ± 10.5%. Grade III showed a short OS (p = 0.053). GTR and NTR were obtained in the first excision in 14 cases (56%), and OS and PFS were not significantly different from those in the STR group (p = 0.219, p = 0.248). GTR and NTR including 2nd-look surgery were obtained in 18 cases (72%), and significant improvement of OS was observed compared with STR group (p = 0.02). In patients with hydrocephalus preoperatively, OS tended to be short (p = 0.057), especially in cases requiring VP shunt placement, OS was significantly shortened (p = 0.017). CONCLUSION Even if it is not GTR or NTR at the first operation, improvement of OS is expected by total excision after chemotherapy. The importance of chemotherapy was suggested to be suppression of tumor growth until reoperation and reduction of blood loss during surgery.