Journal of the Korean Pediatric Society 2002;45(3):383-389.
Published online March 15, 2002.
A Case of Partial DiGeorge Syndrome in Prematurity
Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son
Department of Pediatrics, College of Medicine, Inha University, Inchon, Korea
미숙아에서 발견된 부분형 DiGeorge 증후군 1례
성태정, 고은영, 김달현, 오지은, 권영세, 임대현, 손병관
인하대학교 의과대학 소아과학교실
Correspondence: 
Dae Hyun Lim, Email: dhnlim@inha.ac.kr
Abstract
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 phosphorous- formula 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.
Key Words: Prematurity, Partial DiGeorge syndrome, Late onset hypocalcemic seizure, Chromosome 22q11 microdeletion


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