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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.

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 are 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.

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