Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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미숙아에서 발견된 부분형 DiGeorge 증후군 1례

A Case of Partial DiGeorge Syndrome in Prematurity

  • 성태정 (인하대학교 의과대학 소아과학교실) ;
  • 고은영 (인하대학교 의과대학 소아과학교실) ;
  • 김달현 (인하대학교 의과대학 소아과학교실) ;
  • 오지은 (인하대학교 의과대학 소아과학교실) ;
  • 권영세 (인하대학교 의과대학 소아과학교실) ;
  • 임대현 (인하대학교병원 소아과) ;
  • 손병관 (인하대학교 의과대학 소아과학교실)
  • Sung, Tae Jung (Department of Pediatrics, College of Medicine, Inha University) ;
  • Ko, Eun Young (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kim, Dal Hyon (Department of Pediatrics, College of Medicine, Inha University) ;
  • Oh, Ji Eun (Department of Pediatrics, College of Medicine, Inha University) ;
  • Kwon, Young Se (Department of Pediatrics, College of Medicine, Inha University) ;
  • Lim, Dae Hyun (Department of Pediatrics, College of Medicine, Inha University) ;
  • Son, Byong Kwan (Department of Pediatrics, College of Medicine, Inha University)
  • 투고 : 2001.07.02
  • 심사 : 2001.10.09
  • 발행 : 2002.03.15
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초록

저자들은 미숙아에서 청색증과 무호흡증으로 입원 치료 하던 중 저칼슘혈증으로 인한 경련이 나타난 환아에게서 흉부 X선 사진과 MRI상 흉선을 관찰할 수 없으면서 T 세포수의 감소와 부갑상선 홀몬수치 감소를 나타내고 소악증, 어구, 부리모양의 코 등의 안면 기형과 합지증, 코 역류증, 폐쇄성 수면 무호흡증, 구개 범인두 부전증 등의 증상을 보이며 염색체 22q11 극소결실이 FISH검사에서 확진된 부분형 DiGeorge 증후군 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

We experienced a case of partial DiGeorge syndrome in a $35^{＋5}$ week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray & chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.

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