A Case of Partial DiGeorge Syndrome in Prematurity

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.