Aicardi-Goutières syndrome presenting with haematemesis in infancy.
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. To our knowledge, this is the first documented case of Aicardi-Goutières 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-Goutières syndrome.


CONCLUSIONS
Aicardi-Goutières syndrome can present with haematemesis, adding to the growing evidence that the Aicardi-Goutières syndrome spectrum encompasses an immune-mediated multisystem involvement. Gastrointestinal inflammation should also be considered in these patients and treated appropriately.
Hall
D
D
Paediatric Neurology Department, Evelina Children's Hospital at Guys and St Thomas' Hospitals NHS Foundation Trust, London, UK.
Rice
G I
GI
Akbar
N
N
Meager
A
A
Crow
Y J
YJ
Lim
M J
MJ
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D041981:Gastrointestinal Tract / Q000473:pathology; D006396:Hematemesis / Q000209:etiology*; D006801:Humans; D007223:Infant; D007249:Inflammation; D008279:Magnetic Resonance Imaging; D012640:Seizures / Q000209:etiology; D013577:Syndrome; D014057:Tomography, X-Ray Computed