日本新生児成育医学会雑誌　第32巻　第1号　124 ～ 129頁（2020年）

日本新生児成育医学会雑誌　32(1)：124-129；2020　

受付日：2018．12．28

受理日：2019．06．21

重篤な転帰をとったGalloway-Mowat 症候群の新生児の1 例

A Neonatal Galloway-Mowat Syndrome with Fatal Course

＊1 徳島県立中央病院　小児科，＊2 徳島大学病院　周産母子センター　小児科，＊3 同　小児科

＊1 Department of Pediatrics, Tokushima Prefectural Central Hospital，＊2 Department of Pediatrics, Tokushima University Hospital，＊3 Perinatal Medical center of Tokushima University Hospital

庄野実希＊1・須賀健一＊2・中川竜二＊2・香美祥二＊3

Miki SHONO＊1，Kenichi SUGA＊2，Ryuji NAKAGAWA＊2，Shoji KAGAMI＊3

Key Words：Galloway-Mowat syndrome，intractable epilepsy，congenital nephrotic syndrome，WDR73， next generation sequencing

症例は母体HELLP 症候群のため在胎38 週3 日，2,372g で緊急帝王切開によって出生した男児。妊娠経過は問題なく，胎児超音波検査でも異常は指摘されなかった。小顎，耳介低位，大きくて軟らかい耳，折り重なり指を認め，生後1 時間後より無呼吸を伴うミオクローヌスが出現した。EEG でburst-suppression を認め，phenobarbital 投与で頓挫したが，日齢19 から痙攣発作が再燃しsodium valproate，levetiracetam，midazolam を追加した。日齢34 よりネフローゼ症候群を発症し，日齢37 の頭部CT で脳萎縮と小頭症を認め，Galloway-Mowat 症候群と診断した。フロセミド，ヒト心房性ナトリウム利尿ペプチド，アルブミン，スピロノラクトン，トルバプタンを投与するも，腎不全のため日齢90 に永眠した。病理解剖では両腎は腫大し，びまん性メサンギウム硬化症を呈していた。WDR73 遺伝子変異はなく，次世代シークエンスでも既知の変異は認めなかった。原因遺伝子のさらなる探索が期待される。

The patient was a male who was born at 38 gestational weeks with a birth weight of 2,372g. He had micrognathia；lowset, large, and soft ears；and overlapping fingers. Myoclonic attacks with apnea developed at 1 hour after birth. Electroencephalogram showed burst-suppression pattern. The convulsions subsided by treatment with phenobarbital. However, convulsions relapsed at 19 days of life and he was treated with sodium valproate and levetiracetam combination, and midazolam. Massive proteinuria and edema developed at 34 days of life and he was diagnosed with congenital nephrotic syndrome. Progressive brain atrophy and microcephaly were found in computer tomography at 37 days of life. Therefore, he was diagnosed as Galloway-Mowat syndrome. In spite of administration of furosemide, hANP, albumin, and tolvaptan, he died of renal failure at 90 days of life. Autopsy findings were as follows：bilateral kidneys were enlarged remarkably and diffuse mesangial sclerosis was found in renal specimens. There was no mutation of WDR73 gene by Sanger sequencing and known disease-associated gene mutations were not found by analysis with the next-generation sequencer. A search for causative genes is expected in the near future.