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

TL;DR

This paper presents a rare case of Abernethy syndrome in a child with cyanosis and discusses its diagnostic challenges and clinical features.

Contribution

The novelty lies in reporting a pediatric case with distinct cyanosis and confirming the diagnosis through imaging.

Findings

A child presented with perioral and digital cyanosis, low oxygen saturation, and telangiectasias.

Imaging confirmed Abernethy syndrome, a rare portosystemic shunt, in a pediatric patient.

Clinical features included collateral venous circulation and complications affecting multiple organ systems.

Abstract

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.

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