| A Case of DiGeorge Syndrome |
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Young Joo Son, Yu Sik Jeon, Soon Lee Jung, Kyuchul Choeh |
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Department of Pediatrics, Eulji Medical College, Taejon, Korea |
| DiGeorge 증후군 1예 |
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손영주, 전유식, 정순이, 최규철 |
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을지의과대학 소아과학교실 |
Correspondence:
Young Joo Son, Email: 1
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| Abstract |
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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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