日本未熟児新生児学会雑誌　第21巻　第1号　71～75頁（2009年）

日本未熟児新生児学会雑誌　21(1)：71-75；2009　

受付日：平成19．04．02

受理日：平成20．04．28

膵低形成を認めた極低出生体重児の一例

A Case of Pancreatic Hypoplasia

＊1富山県立中央病院　小児科　＊2現　国立病院機構金沢医療センター　小児科，＊3現　おのうえこどもクリニック

＊1 Department of Pediatrics, Toyama Prefectural Central Hospital，＊2 Department of Pediatrics, National Hospital Organization Kanazawa Medical Center，＊3 Onoue Pediatric Clinic

三谷裕介＊1＊2・尾上洋一＊1＊3・畑崎喜芳＊1

Yusuke MITANI＊1＊2, Yoichi ONOUE＊1＊3, Kiyoshi HATASAKI＊1

Key Words：Pancreatic hypoplasia，neonate，chromosome mosaicism，West syndrome，macular degeneration

　膵の無形成・低形成は，子宮内発育遅延，生後早期に発症する新生児永続型糖尿病，膵外分泌機能不全を特徴とする疾患である。今回当科で，極低出生体重児に膵低形成を合併した一症例を経験した。症例は在胎34週4日，1,139gにて出生，生後早期より高血糖を呈し，血清インスリンは低値を示した。インスリン加療を開始したが，血糖値のコントロールは困難であった。脂肪便を認め，血清膵外分泌酵素の低値，便中キモトリプシン活性の低値，PFD試験の低値を示し，画像検査にて膵と同定できる構造物は認めなかった。眼底検査で黄斑変性症の合併を認めた。染色体核型は45, XO/47, XYYであり，IPF-1遺伝子の変異は同定されなかった。タンパク加水分解MCT乳に変更後，体重増加が良好となり，約3ヶ月にて退院したが，生後10ヶ月にてWest症候群を発症した。膵低形成の報告はこれまでほとんどなく，貴重な症例と考えられた。

　Pancreatic agenesis and pancreatic hypoplasia are rare conditions. Pancreatic agenesis is a clinical entity characterized by intrauterine growth retardation, early onset of permanent neonatal diabetes mellitus, and failure to thrive due to pancreatic exocrine dysfunction. We describe a case of pancreatic hypoplasia with West syndrome, 45,XO/47,XYY mosaicism, and macular degeneration. The male infant was delivered by cesarean section at 34 weeks of gestational age. He was small for gestational age, with a birthweight of 1,139g. Hyperglycemia was noticed on day 1, and insulin therapy was initiated because of persistent hyperglycemia. The infant grew poorly despite aggressive dietary and insulin therapy. His stools were remarkably fatty, so pancreatic exocrine dysfunction was evaluated. Serum pancreatic enzymes and fecal chymotryptic activity were very low. Pancreatic function diagnostant test helped the evaluation of exocrine dysfunction. Ophthalmoscopy revealed macular degeneration. Repeated efforts to visualize the pancreas failed. The karyotype of the patient was 45,XO/47, XYY, and IPF-1 mutation was absent. His growth was accelerated with protein-hydrolyzed medium-chain triglyceride formula, but he developed West syndrome at 12 months.