IgG_3欠乏症を合併したCornelia de Lange症候群の1歳5ヵ月男児に発症したBochdalekヘルニアの1例  [in Japanese] BOCHDALEK HERNIA IN CORNELIA DE LANGE SYNDROME WITH IMMUNOGLOBULIN SUBCLASS G_3 DEFICIENCY  [in Japanese]

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患児は,在胎38週2日, 2,250gで出生.日齢12,哺乳障害のため当院小児科受診,特異な顔貌と外表小奇形などからCornelia de Lange症候群と診断された.反復性嘔吐はないが,緩慢な哺乳が続き著しい発育遅延を呈した. 1歳時に重篤な左肺片側性肺炎に罹患した.1歳5カ月時(体重5,135g),哺乳力低下,顔色不良,腹部の陥凹を認め,胸部X線写真にて左横隔膜ヘルニアの診断にて緊急手術を施行した.新生児期以降に発症したBochdalekヘルニアであり,ヘルニア嚢は存在せず, non-rotation typeの腸回転異常を合併していた. Bochdalekヘルニアを合併した本症候群の報告は本邦2例目である.本症例はIgG<sub>3</sub>欠乏症を合併しており,本症候群の易感染性の病態解明上貴重な症例と思われた.

A male infant was born after a gestation period of 38 weeks and 2 days, with a birth weight of 2250g. Disphagia developed 12 days after birth. On the basis of distinctive facial features and deformities of the extremities, a diagnosis of Cornelia de Lange (CDL) syndrome was given. The patient had heavy development delay without repeat vomiting. At the age of 12 months, he contracted severe left pneumonia. At 17 months of age (with the weight of 5135g), he developed feeding difficulties, pallor, and abdominal concavity. Surgery was performed immediately through a left subcostal laparotomy. This case was of Bochdalek hernia developed afte the period of new-born baby, malrotation of the intestine was involved, and no peritoneal sac was found. This is the second case of CDL syndrome with Bochdalek hernia in Japan. This case was associated with Immunoglobulin subclass G<sub>3</sub> deficiency. Patients with CDL syn-drome are highly susceptible to contagions, so this is a case history of great important.


  • The journal of the Japanese Practical Surgeon Society

    The journal of the Japanese Practical Surgeon Society 56(10), 2079-2083, 1995-10-25

    Japan Surgical Association

References:  15

Cited by:  1


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