A Case of DiGeorge Syndrome

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.