A Case of DiGeorge Syndrome.
- Author:
Young Joo SON
1
;
Yu Sik JEON
;
Soon Lee JUNG
;
Kyuchul CHOEH
Author Information
1. Department of Pediatrics, Eulji Medical College, Taejon, Korea.
- Publication Type:Case Report
- Keywords:
DiGeorge syndrome;
Hypocalcemia;
Seizure;
Microdeletion of 22q11
- MeSH:
Calcium;
Calcium Gluconate;
Diarrhea;
DiGeorge Syndrome*;
Fever;
Humans;
Hypersensitivity, Delayed;
Hypocalcemia;
Infant;
Magnetic Resonance Imaging;
Male;
Milk;
Mouth;
Neck;
Outpatients;
Parathyroid Hormone;
Phenobarbital;
Phenytoin;
Seizures;
Skin Tests;
T-Lymphocytes;
Thorax;
Thymus Gland
- From:Journal of the Korean Pediatric Society
1998;41(3):390-395
- CountryRepublic of Korea
- Language:Korean
-
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.
