The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
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The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid interferon-alpha (IFN-alpha). Diagnosis requires the presence of progressive encephalo...
متن کاملAicardi-Goutières syndrome.
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 sy...
متن کاملFamilial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive bilateral symmetrical calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
متن کاملMRI Features Predictive of Aicardi-Goutieres Syndrome.
Investigators from Children's National Health System Washington, DC, USA: Harvard University, Boston, USA; Leeds Teaching Hospitals, UK; and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutieres (A-G) syndrome and scored for a panel of radiologic predic...
متن کاملAicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.
Aicardi-Goutières syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. The syndrome is characterised by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis and raised interferon-alpha (INF-alpha) in the CSF. AGS is diagnosed on the basis o...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.11.881