Chromosome 22q11 Deletion Complicated by Dissecting Pulmonary Arterial Aneurysm and Jejunal Atresia in an Infant

2000 ◽  
Vol 124 (6) ◽  
pp. 880-882
Author(s):  
Shoji Yamanaka ◽  
Yukichi Tanaka ◽  
Motoyoshi Kawataki ◽  
Rieko Ijiri ◽  
Kiyoshi Imaizumi ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Male Infant ◽  
Velocardiofacial Syndrome ◽  
Arterial Aneurysm ◽  
22Q11 Deletion ◽  
Jejunal Atresia ◽  
Chromosome 22Q11 ◽  
Apple Peel ◽  
Pulmonary Arterial ◽  
Arterial Aneurysms

Abstract 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.

Dissecting pulmonary arterial aneurysm associated with chromosome 22q11 deletion

2001 ◽  
Vol 104 (3) ◽  
pp. 260-261 ◽  
Author(s):  
Yukichi Tanaka ◽  
Yoshikazu Kato ◽  
Keisuke Kato ◽  
Tetsumi Miyake ◽  
Rieko Ijiri ◽  
...  
Keyword(s):  
Arterial Aneurysm ◽  
22Q11 Deletion ◽  
Chromosome 22Q11 ◽  
Pulmonary Arterial

scholarly journals Velocardiofacial Syndrome Patients with a Heterozygous Chromosome 22q11 Deletion Have Giant Platelets

1998 ◽  
Vol 44 (4) ◽  
pp. 607-611 ◽  
Author(s):  
Chris Van Geet ◽  
Koen Devriendt ◽  
Benedicte Eyskens ◽  
Jos Vermylen ◽  
Marc F Hoylaerts
Keyword(s):  
Velocardiofacial Syndrome ◽  
22Q11 Deletion ◽  
Giant Platelets ◽  
Chromosome 22Q11

scholarly journals Mutations of UFD1L Are Not Responsible for the Majority of Cases of DiGeorge Syndrome/Velocardiofacial Syndrome without Deletions within Chromosome 22q11

1999 ◽  
Vol 65 (1) ◽  
pp. 247-249 ◽  
Author(s):  
Roy Wadey ◽  
Judith McKie ◽  
Charalambos Papapetrou ◽  
Helen Sutherland ◽  
Frans Lohman ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Velocardiofacial Syndrome ◽  
Chromosome 22Q11

scholarly journals Ductal Stent Implantation in Tetralogy of Fallot with Aortic Arch Abnormality

2015 ◽  
Vol 42 (3) ◽  
pp. 281-284 ◽  
Author(s):  
Hasan Tahsin Tola ◽  
Yakup Ergul ◽  
Murat Saygi ◽  
Isa Ozyilmaz ◽  
Alper Guzeltas ◽  
...  
Keyword(s):  
Patent Ductus Arteriosus ◽  
Aortic Arch ◽  
Tetralogy Of Fallot ◽  
Ductus Arteriosus ◽  
Main Pulmonary Artery ◽  
Male Infant ◽  
22Q11 Deletion ◽  
Computed Tomographic ◽  
Chromosome 22Q11 ◽  
Patent Ductus

Stenting of patent ductus arteriosus is an alternative to palliative cardiac surgery in newborns with duct-dependent or decreased pulmonary circulation; however, the use of this technique in patients with an aortic arch abnormality presents a challenge. Tetralogy of Fallot is a congenital heart defect that is frequently associated with anomalies of the aortic arch and its branches. The association is even more common in patients with chromosome 22q11 deletion. We present the case of an 18-day-old male infant who had cyanosis and a heart murmur. After an initial echocardiographic evaluation, the patient was diagnosed with tetralogy of Fallot and right-sided aortic arch. The pulmonary annulus and the main pulmonary artery and its branches were slightly hypoplastic; the ductus arteriosus was small. Conventional and computed tomographic angiograms revealed a double aortic arch and an aberrant left subclavian artery. The right aortic arch branched into the subclavian arteries and continued into the descending aorta, whereas the left aortic arch branched into the common carotid arteries and ended with the patent ductus arteriosus. After evaluation of the ductal anatomy, we implanted a 3.5 × 15-mm coronary stent in the duct. Follow-up injections showed augmented pulmonary flow and an increase in oxygen saturation from 65% to 94%. The patient was also found to have chromosome 22q11 deletion.

scholarly journals Duodenal atresia with familial apple peel syndrome: case study with review of literature

2019 ◽  
Vol 12 (8) ◽  
pp. e230160
Author(s):  
Jyotsna M Kirtane ◽  
Snehal A Bhange ◽  
Fazal Nabi ◽  
Varshil Shah
Keyword(s):  
Case Report ◽  
Parenteral Nutrition ◽  
Total Parenteral Nutrition ◽  
Postoperative Period ◽  
Duodenal Atresia ◽  
Short Length ◽  
Review Of Literature ◽  
Jejunal Atresia ◽  
Apple Peel

This is a case report of a neonate who was antenatally diagnosed with jejunal atresia which turned out to be duodenal atresia with apple peel syndrome. A previous sibling, who also had apple peel but with jejunal atresia, succumbed to sepsis after surgery. The first sibling had jejunal stenosis and had died of sepsis following surgery. Combination of duodenal atresia with apple peel is extremely rare. This coupled with a familial condition is rarer still. This case was challenging due to the short length of the gut and prolonged need for total parenteral nutrition and sepsis in postoperative period.

scholarly journals Intracranial arterial aneurysms in childhood: case report

2006 ◽  
Vol 64 (3a) ◽  
pp. 676-680 ◽  
Author(s):  
Fernando Campos Gomes Pinto ◽  
Leandro Valiengo ◽  
Pedro Paulo Mariani Lima Santos ◽  
Hamilton Matushita ◽  
José Píndaro Pereira Plese
Keyword(s):  
Case Report ◽  
Cerebral Aneurysm ◽  
Operative Technique ◽  
Vessel Wall ◽  
Internal Carotid ◽  
Carotid Bifurcation ◽  
Early Surgery ◽  
Arterial Aneurysm ◽  
Intraoperative Rupture ◽  
Arterial Aneurysms

A case of an intracranial arterial aneurysm at internal carotid bifurcation in a 10-year-old girl is described with the special features of cerebral aneurysm which occur in children, comparing with the adults. We alert for the necessity of carefully operative technique in order to avoid damage and intraoperative rupture of the aneurysm due to the very thin vessel wall that this population can develop. Our recommendation is early surgery in these patients.

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