Sneddon's Syndrome: Unusual Features and Associations

Abraheem Abraheem,Sarah Morcos Ba

doi:10.29333/ejgm/82746

Abstract

A 43-year-old Caucasian female, with known 46XY chromosome pure gonadal agenesis and systemic hypertension, presented with upper motor neuron weakness of the right face and upper limb. She was also noted to have livedo reticularis and advanced finger clubbing. Left-sided cerebral infarction was confirmed on brain computed tomography (CT) and, following further investigations, a diagnosis of Sneddon’s s syndrome (SS) was made. Three years later, she went on to develop adenocarcinoma of the right lung, which sadly claimed her life within 4 months. To our knowledge, this is the first reported case of SS in association with finger clubbing and pure gonadal agenesis.

Highlights

Sneddon’s syndrome (SS) is a rare disease of unknown aetiology, characterised by ischaemic cerebrovascular accident and generalised idiopathic livedo reticularis
We present the first recorded case of SS in a 43-year-old female in association with pure gonadal agenesis and advanced finger clubbing
The association of SS with pure gonadal agenesis has not been previously documented in the literature

Summary

Introduction

Sneddon’s syndrome (SS) is a rare disease of unknown aetiology, characterised by ischaemic cerebrovascular accident and generalised idiopathic livedo reticularis. Anahtar kelimeler: Sheddon's sendromu, saf gonadal agenizi, çomak parmak, adenokarsinom It is more common in females between the third and fifth decade, with an estimated incidence of four cases per million per year.

Results

Conclusion