Journal of the Korean Pediatric Society 1998;41(3):390-395.
Published online March 15, 1998.
A Case of DiGeorge Syndrome
Young Joo Son, Yu Sik Jeon, Soon Lee Jung, Kyuchul Choeh
Department of Pediatrics, Eulji Medical College, Taejon, Korea
DiGeorge 증후군 1예
손영주, 전유식, 정순이, 최규철
을지의과대학 소아과학교실
Correspondence: 
Young Joo Son, Email: 1
Abstract
We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin. The serum calcium level was 3.7mg/dl, ionized calcium level was 0.62mmol/L, and parathyroid hormone carboxy-terminal level was 0.01ng/ml. We treated with it calcium gluconate infusion, low phosphorous formula milk feeding, and 1,25(OH)2D3. The serum calcium level was normalized in 3 days but fever and diarrhea symptom continued for 3 weeks. T-cells decreased, no thymus shadow was visible in chest MRI, and no reaction to delayed hypersensitivity skin test was detected at 9 months old. He has been followed up at the outpatient department, showing normal calcium level with the supplementation of calcium gluconate and 1,25(OH)2D3 for 10 months. A brief review of literatures was made.
Key Words: DiGeorge syndrome, Hypocalcemia, Seizure, Microdeletion of 22q11


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