mizutani hideki

3歳9ヵ月男児。糖原病Ib型患児であり、左側完全唇顎口蓋裂、舌小帯強直症、中心静脈ポート破損の診断で、口蓋形成術、舌小帯形成術、中心静脈ポート除去術が予定された。1歳時に中心静脈ポート造設術と胃瘻造設術を受けるも、中心静脈ポートは使用不能であり、1歳5ヵ月の受診時には精神遅滞、易感染性、肝機能異常を認めたため、口蓋形成術よりも糖原病の治療が優先されていた。血糖コントロールの安定化と好中球、肝機能の正常化が得られたため、全身麻酔下で口蓋形成術を行うことになり、術前より麻酔管理上の問題点である血糖コントロール、代謝性アシドーシス、易感染性への対策を講じた。その結果、周術期の血糖値は良好にコントロールされ、中心静脈ポート除去部、口蓋形成創部の治癒は遅延したものの、感染は予防し得た。

4ヵ月女児。先天性に上下顎および頬粘膜が癒着し、強度の開口障害(前歯歯槽堤間で5mm)と口蓋裂を伴ったOral synechia患児であり、全身麻酔下に上下顎癒着切離術を予定した。心拡大、心電図異常、心房中隔欠損および肺動脈弁上狭窄が確認されたが、全身麻酔による心不全の可能性は低いと判断し、気道管理法は経鼻ファイバー挿管、特に体動による操作困難や喉頭痙攣の可能性を勘案して全身麻酔導入後の無意識下挿管を選択した。換気困難や気道確保困難が予測されたが、術中の血圧や心拍数は安定しており、術後経過は良好で開口量は10mmに拡大した。既存の手技を参考にし、症例に適した方法を用いることで患者の負担を軽減できると考えられた。

Russell- Silver syndrome (RSS) is a syndrome characterized by intrauterine growth retardation, short stature without postnatal catch up growth, inverted triangular face with relative large head. Though orthodontic treatment may be performed for the malocclusion caused by growth disturbance and right - left asymmetry of viscerocranium, cleft palate is rarely complicated.<br>We report a case of RSS with cleft palate. The patient was 6-months girl at initial visit to our center, she was born at 39 weeks gestation in August 2007. At birth, her weight was 1,334 g, her height was 39 cm, Apgar score were 4/8. Because of extremely low birth weight, she was transported to the nearest municipal hospital in the following day. She had no problem in breathing and no abnormal findings were detected in the echocardiography. Though cleft palate was confirmed, suckling was possible. No abnormal findings were detected in head CT and MR imaging. She discharged in November, 2,315 g weighted. Though tube feeding was applied, weight gain was poor. She was referred to our center in February 2008, as it was thought that poor suckling was due to cleft palate. We made palatal plate and took a wait-and-see approach with pediatricians. From the appearance of growth delay, inverted triangular face with normal head circumference, asymmetry of the length of lower limb, RSS was suspected. We had cytogenetic analyses, epigenetic mutation of the H19-DMR on chromosome 11p was identified, diagnosis of RSS were confirmed with characteristic clinical features. Development delay was not obvious including speech, so we performed palatoplasty in September 2010, when she was 3 years and 1 month old, 6,365 g in weight. Mouth breadth was narrow, opening was limited, intubation was possible, but Dingman mouth gag was inapplicable. 20mm mouth opening was obtained by forced opening with utility mouth gag, she was operated while pulling and displacing her tongue. Postoperative complications were absent, speech therapy had started. The evolving of epigenetics elucidated the pathogenesis and the way for early diagnosis for RSS. In the treatment of RSS infants with cleft palate, it was thought to be important to respond in well considering for the pathogenesis.

A clinico-statistical investigation was conducted with 1112 cleft lip and/or palate patients (excluded 18 cases in which data were inadequate) in the Cleft Lip and Palate Center, Fujita Health University Hospital, since its foundation in April 1992.<br>The results were as follows:<br>1) Primary cases were 1073, secondary cases were 39, and average number of patients registered per year was 75.5 from 1993 to 2006.<br>2) The distribution by cleft type was: 368 cases (33.1%) with unilateral CL (A) P, 279 cases (25.1%) with unilateral CL (A), 275 cases (24.7%) with CP, 157 cases (14.1%) with bilateral CL (A) P, 26 cases (2.3%) with bilateral CL (A), and 7 cases (0.6%) with others.<br>3) The average number of operations per year from 1993 to 2006 was as follows: chelioplasty (primary lip operation) 61.7, palatoplasty (one stage operation for CP) 13.1, palatoplasty (soft palate in two stage operation) 26.5, palatoplasty (hard palate in two stage operation) 23.4, secondary alveolar bone graft 17.8, and secondary operation for velopharyngeal incompetence 3.<br>4) The number of patients registered for speech evaluation and training was 741 until June 2007.