Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant.
We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.
Yamanaka
S
S
Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
Tanaka
Y
Y
Kawataki
M
M
Ijiri
R
R
Imaizumi
K
K
Kurahashi
H
H
D000784:Aortic Dissection / Q000150:complications* / Q000473:pathology; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D003241:Consanguinity; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007409:Intestinal Atresia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007583:Jejunum / Q000002:abnormalities*; D007621:Karyotyping; D008168:Lung / Q000473:pathology; D008297:Male; D009102:Multiple Organ Failure; D011651:Pulmonary Artery / Q000473:pathology*