Clinical and Experimental Pediatrics

Case Report

DiGeorge syndrome who developed lymphoproliferative mediastinal mass

Kyu Yeun Kim, Ji Ae Hur, Ki Hwan Kim, Yoon Jin Cha, Mi Jung Lee, Dong Soo Kim

Clin Exp Pediatr. 2015;58(3):108-111. Published online March 20, 2015

DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum. Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia are the classic triad of DiGeorge syndrome. As this syndrome is characterized by hypoplastic or aplastic thymus, there are missing...

DOI: https://doi.org/10.3345/kjp.2015.58.3.108

A Case of Partial DiGeorge Syndrome in Prematurity

Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son

Clin Exp Pediatr. 2002;45(3):383-389. Published online March 15, 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,...

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A Case of DiGeorge Syndrome

Young Joo Son, Yu Sik Jeon, Soon Lee Jung, Kyuchul Choeh

Clin Exp Pediatr. 1998;41(3):390-395. Published online March 15, 1998

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...

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