Aicardi-Goutières syndrome.

Abstract

Aicardi-Goutieres syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-alpha in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-alpha. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.

• Authors: Françoise Goutières
• Journal: Brain & development (Brain Dev) Vol. 27 Issue 3 Pg. 201-6 (Apr 2005) ISSN: 0387-7604 [Print] Netherlands
• PMID: 15737701 (Publication Type: Journal Article, Review)

Chemical References

• Interferon-alpha

Topics

• Basal Ganglia Diseases (cerebrospinal fluid, genetics, pathology)
• Brain (pathology)
• Calcinosis (cerebrospinal fluid, genetics, pathology)
• Diagnosis, Differential
• Humans
• Infant
• Infant, Newborn
• Interferon-alpha (cerebrospinal fluid)
• Lymphocytosis (cerebrospinal fluid, genetics, pathology)
• Necrosis (pathology)
• Skin Diseases (cerebrospinal fluid, pathology)