Hino-Fukuyo Naomi, Togashi Noriko, Takahashi Ritsuko, Saito Junko, Inui Takehiko, Endo Wakaba, Sato Ryo, Okubo Yukimune, Saitsu Hirotomo, Haginoya Kazuhiro
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
Pediatr Neurol. 2016 Jan;54:39-42.e1. doi: 10.1016/j.pediatrneurol.2015.08.016. Epub 2015 Aug 28.
No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011.
We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. These covered all clinics related to pediatric neurology and orthopedic surgery in Miyagi prefecture. In the inquiry, diagnostic criteria for porencephaly, schizencephaly, and hydranencephaly were described and representative images of magnetic resonance imaging were shown. We obtained an 82% (27 of 33) response rate from the divisions of pediatrics, a 100% (3 of 3) response rate from the neonatal intensive care units, and a 68% (17 of 25) response rate from orthopedic surgery clinics. The magnetic resonance imaging scans of each patient were retrieved and inspected.
Five, one, and two individuals developed porencephaly, schizencephaly, and hydranencephaly, respectively. The estimated incidence rates of porencephaly, schizencephaly, and hydranencephaly were 5.2 (95% confidence interval [CI], 0.6-9.8), 1.0 (95% CI, 0.0-3.1), and 2.1 (95% CI, 0.0-5.0) per 100,000 live births, respectively.
The prevalence rates of porencephaly, schizencephaly, and hydranencephaly at birth reported herein are compatible with results reported previously in the United States and European countries. The overall prevalence rate of these three diseases was 8.3 (95% CI, 2.6-14.1) per 100,000 live births.
日本及其他亚洲国家尚未开展基于人群的脑穿通畸形、脑裂畸形和积水性无脑畸形调查。我们进行了一项神经流行病学分析，以阐明2007年至2011年期间日本宫城县脑穿通畸形、脑裂畸形和积水性无脑畸形的发病率。
2012年2月，我们向宫城县的三家新生儿重症监护病房、25家市立医院的骨科、33家儿科（包括一家大学医院、市立医院、儿科医生以及残疾儿童机构）发送了调查问卷。这些涵盖了宫城县所有与儿科神经学和骨科相关的诊所。在调查问卷中，描述了脑穿通畸形、脑裂畸形和积水性无脑畸形的诊断标准，并展示了磁共振成像的代表性图像。我们收到了儿科科室82%（33家中有27家）的回复率、新生儿重症监护病房百分之百（3家中的3家）的回复率以及骨科诊所68%（25家中 的17家）的回复率。检索并重审了每位患者的磁共振成像扫描结果。
分别有5例、1例 和2例患者出现脑穿通畸形、脑裂畸形和积水性无脑畸形。脑穿通畸形、脑裂畸形和积水性无脑畸形的估计发病率分别为每10万例活产儿5.2例（95 %置信区间[CI]，0.6 - 9.8）、1.0例（95% CI，0.0 - 3.1）和2.1例（95% CI，0.0 - 5.0）。
本文报告的出生时脑穿通畸形、脑裂畸形和积水性无脑畸形的患病率与美国和欧洲国家先前报告的结果一致。这三种疾病的总体患病率为每10万例活产儿8.3例（95% CI，2.6 - 14.1）。
