DiGeorge syndrome with truncus arteriosus: report of one case.
DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months.
Liang
Pei-Hsuan
PH
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Chen
Ming-Ren
MR
Shyur
Shyh-Dar
SD
Lee
Yann-Jinn
YJ
Lin
Shuan-Pei
SP
Yu
Ming-Tsung
MT
Chiu
Ing-Sh
IS
Chen
Shyh-Jye
SJ
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000473:pathology*; D017809:Fatal Outcome; D006323:Heart Arrest; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008297:Male; D014339:Truncus Arteriosus, Persistent / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D014463:Ultrasonography