Aicardi-Goutieres syndrome presenting with haematemesis in infancy.

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Abstract

Aicardi-Gouti??res syndrome is a genetic childhood encephalopathy characterized by basal ganglia calcification, chronic cerebrospinal lymphocytosis and elevated cerebrospinal fluid interferon-alpha, mimicking acquired congenital viral infections. As more is discovered about the pathogenesis of Aicardi-Gouti??res, it is becoming evident that a dysfunction of the immune system is likely to be responsible for the disease phenotype. We describe a previously healthy 2-month-old female infant who presented with haematemesis and seizures and was subsequently diagnosed with Aicardi-Gouti??res syndrome. To our knowledge, this is the first documented case of Aicardi-Gouti??res syndrome presenting with haematemesis. The gastrointestinal tract is an area of high cell loss, revealing early signs of systemic inflammation and we postulate that a systemic proinflammatory milieu occurs in Aicardi-Gouti??res syndrome. CONCLUSION: Aicardi-Gouti??res syndrome can present with haematemesis, adding to the growing evidence that the Aicardi-Gouti??res syndrome spectrum encompasses an immune-mediated multisystem involvement. Gastrointestinal inflammation should also be considered in these patients and treated appropriately.

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