All issues > Volume 19(5); 1976

Case Report

J Korean Pediatr Soc. 1976;19(5):366-371. Published online May 31, 1976.

DiGeorge Syndrome

Tae Woon Kim¹, Yong Choi¹, Hyung Ro Moon¹

¹Department of Pediatrics, Seoul National University College of Medicine

Abstract

A case of DiGeorge syndrome in 2-month-old male infant was presented with a brief review of literature. He was characterized by a malformed right ear, a short philtrum of the upper lip, polydactyly, hypocalcemia, generalized, convulsions and absence of the thymic shadow in a film of the chest. Although the generalized convulsions were abated with calcium gluconate therapy, he died on the second hospital day. At postmortem examination the thymus and the parathyroid glands were grossly absent and both lower lungs were congested. There were no congenital cardiovascular anomalies. Imunological studies and microscopic examinations through serial sectioning of the organs of the anterior mediastinum and the neck were not performed.

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