• Title/Summary/Keyword: Partial DiGeorge syndrome

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A Case of Partial DiGeorge Syndrome in Prematurity (미숙아에서 발견된 부분형 DiGeorge 증후군 1례)

  • Sung, Tae Jung;Ko, Eun Young;Kim, Dal Hyon;Oh, Ji Eun;Kwon, Young Se;Lim, Dae Hyun;Son, Byong Kwan
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.383-389
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    • 2002
  • 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 phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & 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 & 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.