日本新生児成育医学会雑誌　37(2)：118-125；2025　

日本新生児成育医学会雑誌　第37巻　第2号　118 ～ 125頁（2025年）

受付日：2025．02．03

受理日：2025．05．01

骨折を伴う急産で出生した児がMenkes 病であった1 例

A Case of Menkes Disease Presenting with Bone Fracture at Precipitate Delivery

＊ 1 広島大学病院　小児科，＊ 2 県立広島病院　新生児科，＊ 3 県立広島病院　小児科

＊ 1 Department of Pediatrics, Hiroshima University Hospital， ＊ 2 Department of Neonatal, Hiroshima Prefectural Hospital， ＊ 3 Department of Pediatrics, Hiroshima Prefectural Hospital

西田優衣＊ 1・前野誓子＊ 2・福原里恵＊ 2・藤原　信＊ 2・ 古川　亮＊ 2・佐伯久子＊ 2・村上智樹＊ 2・石川暢恒＊ 3

Yui NISHIDA ＊ 1，Seiko MAENO ＊ 2，Rie FUKUHARA ＊ 2，Shin FUJIWARA ＊ 2， Ryo FURUKAWA ＊ 2，Hisako SAIKI ＊ 2，Tomoki MURAKAMI ＊ 2，Nobutsune ISHIKAWA ＊ 3

Key Words：Menkes 病（Menkes disease），銅欠乏（copper deficiency），頭髪異常（abnormal hair growth），骨折（bone fracture）

症例は在胎37 週6 日で出生した男児。自宅で急産で出生し近医で管理されていたが日齢7 に哺乳不良と落陽現 象を主訴に当院に転院した。入院時，鎖骨と頭蓋骨の骨折があり頭部MRI で両側眼窩内に血腫を認めた。前頭部 の毛髪は疎だったが縮毛や色素異常はなかった。哺乳や落陽現象は改善し日齢22 に自宅退院した。生後3 か月で 哺乳不良のため当院小児科に入院した際に頭髪異常を認め，血清銅・セルロプラスミンが異常低値であり，遺伝学 的検査でATP7A 遺伝子のバリアントを認めMenkes 病と診断された。Menkes 病は早期に治療を始めなければ神 経障害の改善が期待できないため早期診断・治療が重要だが，本症例では初回入院後の諸検査で骨折を来しうる器 質的疾患が否定的であったことから，入院時の骨折を分娩時外傷と考え一連の主訴は出生時の影響と考えていた。 頭髪異常と骨折はMenkes 病に特徴的であり，男児で生後早期に頭髪異常や骨折を認めた際にはMenkes 病を鑑別 診断として挙げる必要がある。

The case is a boy born at 37 weeks and 6 days gestation, weighing 2,246g. He was born at home and managed by a local doctor, but at 7 days of age he was transferred to our hospital with the main complaints of poor feeding, respiratory failure and the sunset phenomenon. At the time of admission, he had a fractured right clavicle and parietal bone, and a head MRI scan showed bilateral orbital hematoma. The hair on the front of the head was sparse, but there were no frizzy hairs or pigment abnormalities. The feeding and sunset phenomenon was improved, and he was discharged from hospital at 22 days of age. When he was admitted to our hospital’s pediatric department at three months of age due to poor feeding, we noticed an abnormality in his hair. And a blood test showed abnormality low levels of copper and ceruloplasmin and a genetic test revealed a variant in the ATP7A gene. Therefore, he was diagnosed with Menkes disease. Menkes disease is a condition for which improvement of neurological impairment cannot be expected unless treatment is started early, so early diagnosis and treatment are important. But in this case, the fracture at the time of NICU admission was thought to be due to birth trauma, and the series of chief complaints were thought to be due to the birth events. Abnormal hair growth and fractures are characteristic of Menkes disease, and when an abnormality in hair growth or a fracture is observed in a boy in the early postnatal period, Menkes disease should be considered as a differential diagnosis.