Aicardi-Goutières syndrome presenting with haematemesis in infancy.

Unlabelled: Aicardi-Goutières 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-Goutières, 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-Goutières syndrome.

Thalamic infarct presenting as apparent life-threatening event in infants.

Unlabelled: Thalamic infarction with distinct manifestations is well-described in adults but less well-delineated in children. We report two infants who presented with an apparent life-threatening event (ALTE) with very early magnetic resonance imaging (MRI) demonstrating a unilateral thalamic infarction. Subsequent MRI demonstrated bilateral changes in the brain stem and basal ganglia, which were in keeping with profound hypoxic ischaemic injury.