All issues > Volume 41(3); 1998

Case Report

J Korean Pediatr Soc. 1998;41(3):390-395. Published online March 15, 1998.

A Case of DiGeorge Syndrome

Young Joo YJ Son¹, Yu Sik YS Jeon¹, Soon Lee SL Jung¹, Kyuchul Kc Choeh¹

¹Department of Pediatrics, Eulji Medical College, Taejon, Korea

Correspondence Young Joo YJ 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.

Keywords :DiGeorge syndrome, Hypocalcemia, Seizure, Microdeletion of 22q11