日本新生児成育医学会雑誌　第35巻　第1号　80 ～ 84頁（2023年）

日本新生児成育医学会雑誌　35(1)：80-84；2023　

受付日：2022．01．18

受理日：2022．05．24

哺乳不良を主訴に入院したShort-chain enoyl-CoA hydratase 1 欠損症の1 例

A Case of Neonatal Short-Chain Enoyl-CoA Hydratase 1 Deficiency Presented with Feeding Difficulty

＊ 1 国立病院機構岡山医療センター　小児科，＊ 2 同　新生児科，＊ 3 埼玉医科大学　小児科・ゲノム医療科

＊ 1 Department of Pediatrics, Okayama Medical Center, National Hospital Organization，＊ 2 Department of Neonatology, Okayama Medical Center, National Hospital Organization，＊ 3 Department of Pediatrics ＆ Clinical Genomics, Faculty of Medicine, Saitama Medical University

鈴木健吾＊ 1・福嶋ゆう＊ 2・竹内章人＊ 2・大竹　明＊ 3・玉井　圭＊ 2・中村和恵＊ 2・中村　信＊ 2・影山　操＊ 2

Kengo SUZUKI ＊ 1，Yu FUKUSHIMA ＊ 2，Akihito TAKEUCHI ＊ 2，Akira OHTAKE ＊ 3，Kei TAMAI ＊ 2，Kazue NAKAMURA ＊ 2，Makoto NAKAMURA ＊ 2，Misao KAGEYAMA ＊ 2

Key Words：short-chain enoyl-CoA hydratase 1deficiency，leigh syndrome，proton magnetic resonance spectroscopy

症例は在胎38 週4 日，出生体重2,655g の女児。胎児期に羊水過少症と胎児発育不全があった。新生児聴覚スクリーニング検査は両側リファーであった。哺乳不良と経皮的酸素飽和度低下のため日齢3 に当院へ搬送された。超音波検査で心室中隔欠損症と動脈管開存症を認めた。血中乳酸値は入院時に高値であったが，その後正常化した。しかし日齢16 のプロトン磁気共鳴スペクトロスコピー（proton magnetic resonance spectroscopy：MRS）で半卵円中心と視床に乳酸ピーク上昇を認め，髄液でも乳酸，ピルビン酸が上昇していた。ミトコンドリア病関連遺伝子検査でShort-chain enoyl-CoA hydratase 1（ECHS1）欠損症（OMIM #616277）と判明し，日齢44 の頭部画像検査で左右対称な脳萎縮を認め，Leigh 脳症と診断した。Leigh 脳症は乳児期発症の代表的なミトコンドリア病だが，新生児期発症は少なく，血中乳酸値が上昇するとも限らず診断が難しい場合がある。哺乳困難，呼吸パターンの異常，難聴など脳幹に関連する複数の神経症状を有する場合は新生児Leigh 脳症を念頭に置き，MRS や髄液検査を行うことが望ましい。

We report on a female infant with short-chain enoyl-CoA hydratase 1 deficiency, who was born at a gestational age of 38 weeks and 4 days with a birth weight of 2,655 g. She had a prenatal history of oligohydramnios and fetal growth restriction. She was referred to our hospital at 3 days of age due to feeding difficulty and low oxygen saturation. Ultrasonography showed ventricular septal defect and patent ductus arteriosus. Automated auditory brainstem response showed an abnormal result. Blood lactate levels were high on admission but normalized later. However, proton magnetic resonance spectroscopy at 16 days of age revealed elevated lactate peak in the thalamus and white matter. The lactate and pyruvate levels were also elevated in the cerebrospinal fluid. Short-chain enoyl-CoA hydratase 1 deficiency was identified by mitochondrial disease-related genetic testing. Cranial magnetic resonance imaging at 44 days of age showed symmetrical brain atrophy. Based on those results, we made a diagnosis of Leigh syndrome. Leigh syndrome is a common mitochondrial disease with infantile onset. However, it is usually difficult to diagnose in early infancy, because Leigh syndrome is rare in the neonatal period and blood lactate levels are not always elevated. When multiple symptoms of brain stem dysfunction, such as feeding difficulties, abnormal breathing patterns, and hearing loss are present, Leigh syndrome should be suspected and MRS and cerebrospinal fluid test should be performed.