日本未熟児新生児学会雑誌　第27巻第1号　99 ～ 106頁（2015年）

日本未熟児新生児学会雑誌　27(1)：99-106；2015　

受付日：平成25．06．04

受理日：平成26．10．06

新生児期発症のモリブデンコファクター欠損症の同胞例

Two Siblings with Molybdenum Cofactor Deficiency

＊1紀南病院　小児科，＊2和歌山県立医科大学　総合周産期母子医療センター　NICU，＊3和歌山県立医科大学　小児科

＊1Department of Pediatrics, Kinan Hospital, ＊2Neonatal Intensive Care Unit, Perinatal Medical Center, Wakayama Medical University, ＊3Department of Pediatrics, Wakayama Medical University

杉本卓也＊1・樋口隆造＊2・熊谷　健＊2・奥谷貴弘＊2・田村　彰＊3・平松知佐子＊1・吉川徳茂＊3

Takuya SUGIMOTO＊1，Ryuzo HIGUCHI＊2，Takeshi KUMAGAI＊2，Takahiro OKUTANI＊2，Akira TAMURA＊3，Chisako HIRAMATSU＊1，Norishige YOSHIKAWA＊3

Key Words：hypouricemia，molybdenum cofactor deficiency，multicystic leukoencephalomalacia，neonatal seizure，sulfurous acid

　モリブデンコファクター欠損症の同胞例を報告した。第1 子はモニター上の胎児機能不全があり緊急帝王切開で出生し，出生後間もなくから痙攣が出現し，頭部MRI で白質病変と脳萎縮の急速な進行を認めた。低酸素性虚血性脳症として経過観察した。第2 子は予定帝王切開で出生した後，正常新生児室で哺乳が緩慢であり，頭部超音波検査を行ったところ前頭葉に嚢胞形成を認めた。その後，出生後29 時間より痙攣が出現した。血中尿酸の低値から本症を疑い，尿中亜硫酸定性検査を行うと2 例とも陽性であったことから本症と診断した。2 例とも日齢0 ないし1 に頭部超音波検査，CT，MRI で白質の嚢胞性変化や脳萎縮を認め，これらの所見は急速に進行した。

　We report two siblings with molybdenum cofactor deficiency（MoCD）who developed seizure at birth and 29 hours after birth, respectively.
　The first sibling was born by an emergency cesarean section since fetal heart rate monitoring showed fetal dysfunction. Tonic-clonic seizure appeared shortly after birth, and brain MRI showed subcortical cystic lesions. We diagnosed the cause of neonatal seizure as hypoxic-ischemic encephalopathy.
　The second sibling was born uneventfully by a planned cesarean section.
　The infant sucked sluggishly in the newborn nursery, and brain ultrasound revealed multiple cystic lesions in the frontal lobe. Thereafter, he suddenly showed clonic seizure at 29 hours after birth. Because both of the siblings had hypouricemia, we suspected the neonatal seizure to be due to MoCD. The sulfurous acid qualitative test was positive in the urine of the siblings, which leaded to the diagnosis of MoCD.
　Multiple cystic lesions that cranial ultrasound and brain MRI showed in the white matter of the two siblings at the age of 0 and 1 day, respectively, progressed rapidly into brain atrophy in about a month. Cystic changes in white matter were clearly found even before neonatal seizures appeared in the 2nd sibling.