J Korean Pediatr Soc.  2002 Mar;45(3):383-389.

A Case of Partial DiGeorge Syndrome in Prematurity

• Sung TJ
• Ko EY
• Kim DH
• Oh JE
• Kwon YS
• Lim DH
• Son BK

Abstract

We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorous- formula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions and numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray and chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.

Keyword

Prematurity; Partial DiGeorge syndrome; Late onset hypocalcemic seizure; Chromosome 22q11 microdeletion

MeSH Terms

Animals
Beak
Calcium
Calcium Gluconate
DiGeorge Syndrome*
Echocardiography
Electrocardiography
Electroencephalography
Female
Hearing
Hearing Loss
Heart
Humans
Hydronephrosis
Infant
Kidney
Magnesium
Magnesium Sulfate
Magnetic Resonance Imaging
Milk
Mouth
Nose
Seizures
Sleep Apnea, Obstructive
T-Lymphocytes
Thorax
Thymus Gland
Velopharyngeal Insufficiency
Calcium
Calcium Gluconate
Magnesium
Magnesium Sulfate