川邊 絢香¹, 松村 英祥², 馬場 一憲¹, 五味 陽亮¹, 成田 達哉¹, 高井 泰³, 齋藤 正博¹, 関 博之¹

Ayaka KAWABE¹, Hideyoshi MATSUMURA², Kazunori BABA¹, Yousuke GOMI¹, Tatsuya NARITA¹, Yasushi TAKAI³, Masahiro SAITO¹, Hiroyuki SEKI¹

¹埼玉医科大学総合医療センター総合周産期母子医療センター母体胎児部門, ²信州上田医療センター産婦人科, ³埼玉医科大学総合医療センター産婦人科

¹Center for Maternal, Fetal and Neonatal Medicine, Saitama Medical Center, Saitama Medical University, ²Department of Obstetrics and Gynecology, Shinshu Ueda Medical Center, ³Department of Obstetrics and Gynecology, Saitama Medical Center, Saitama Medical University

キーワード : polyhydramnios, otocephaly, agnathia-otocephaly, three-dimensional ultrasound

【緒言】今回，羊水過多を呈し無下顎耳頭症の診断に至った1例を経験したので，報告する．【症例】29歳，0回経妊．喘息を合併しておりフルチカゾンプロピオン酸エステルで加療中であった．初期より前医で妊婦健診を受診し，問題なく経過した．妊娠28週5日に腹部膨満感と嘔気を主訴に受診した際，著明な羊水過多を認めたため，妊娠29週0日に当院へ紹介となった．初診時，AFI （amniotic fluid index）35 cmの羊水過多と胎児の顔貌異常を認め，子宮収縮頻回のため，切迫早産の診断で緊急入院となった．3次元超音波診断装置を用いて精密検査を行うと，眼間狭小，鼻と上唇が挙上，頸部まで至る耳介低位があり，重症無下顎耳頭症の診断となった．積極的な治療や胎児新生児の救命は行わない方針となり，29週6日に一時退院した．妊娠30週3日に陣痛が発来し，同日分娩に至った．児は1,304 g，Apgar Score（1/5分値）は2/1点，生後21分で早期新生児死亡となった．【考察・結語】耳頭症は1/70,000ほどの発症頻度で，原因物質としてテオフィリン，ベクロメタゾン，サリチル酸塩などの報告もあるが，ほとんどは突発的である．非常に予後不良であり，小顎症と併せて鑑別する必要がある．3次元超音波検査は診断に有用であり，早期発見のためには妊娠18～20週頃に系統的なスクリーニング検査が望まれる．

Introduction: We report a case that presented with polyhydramnios and resulted in a diagnosis of a very rare anomaly, i.e., otocephaly, at 29 weeks of pregnancy. Case: The patient was 29 years old and gravida 0. She had asthma and was being treated with inhalants including fluticasone propionate. She experienced nausea and was referred to our center from her first physician owing to the polyhydramnios at 29 weeks’ pregnancy. After she was hospitalized for preterm labor, three-dimensional ultrasound precisely demonstrated craniofacial anomalies including agnathia, protuberance of the nose-mouth fusion, and synotia. The fetus was diagnosed with otocephaly. After informed consent was obtained, we decided not to treat her or her baby aggressively. She left the hospital at 29 weeks and 6 days of pregnancy. A male newborn weighing 1,304 g was delivered at 30 weeks’ gestation. Death occurred spontaneously 21 minutes after birth. Discussion: Otocephaly has been reported to occur in fewer than 1 in 70,000 births. It has been reported that theophylline, beclomethasone, and salicylates are causes of otocephaly, but the anomaly strikes suddenly. Three-dimensional ultrasound is useful, and screening at around 20 weeks of pregnancy is recommended for early prenatal diagnosis.