Beyond the Rib Cage: Unraveling Abernethy Syndrome as a Rare Cause of Cyanosis

Abernethy syndrome is a rare congenital malformation stemming from a portosystemic shunt. Diagnosis proves challenging due to nonspecific clinical symptoms, with presentation varying based on age and disease severity. Consequences include hepatic, cardiovascular, renal, gastrointestinal, and neurolo...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-05, Vol.16 (5), p.e60501-e60501
Main Authors: Salhi, Chaimae, N'joumi, Chaimae, Kamaoui, Imane, Rkain, Maria, Babakhouya, Abdeladim
Format: Article
Language:English
Subjects:
Abdomen
Asymptomatic
Case reports
Cyanosis
Gastroenterology
Hospitals
Liver transplants
Magnetic resonance imaging
Metabolism
Metabolites
Pediatric Surgery
Pediatrics
Ultrasonic imaging
Veins & arteries
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Summary:Abernethy syndrome is a rare congenital malformation stemming from a portosystemic shunt. Diagnosis proves challenging due to nonspecific clinical symptoms, with presentation varying based on age and disease severity. Consequences include hepatic, cardiovascular, renal, gastrointestinal, and neurological complications, and growth retardation. We report the case of a child presenting with perioral and digital cyanosis, observed in early childhood. Clinical examination revealed low saturation, telangiectasias, digital clubbing, and collateral venous circulation in the thorax. Imaging confirmed the diagnosis of Abernethy syndrome.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.60501