04.10.2021 | Case Report
Late onset Aicardi–Goutières syndrome case report: a rare white matter disease mimicking as pseudo-enzyme deficiency
verfasst von:
Melis Ulak Ozkan, Selahattin Katar, Edibe Pembegul Yildiz, Nur Aydinli, Mine Caliskan
Erschienen in:
Acta Neurologica Belgica
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Ausgabe 1/2022
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Excerpt
Aicardi–Goutières syndrome (AGS), is a rare autoinflammatory disease defined as an early onset encephalopathy, intellectual disability, intracranial calcification, cerebral white matter abnormalities and high interferon alpha levels in cerebrospinal fluid (CSF). Most affected infants present with subacute onset of encephalopathy, intermittent sterile pyrexia, regression in head growth resulting microcephaly, intellectual disabilty although a subgroup of patients present with elevated liver enzymes, abnormal neurologic signs and hepatosplenomegaly at birth [
1]. Late-onset AGS, or “atypical” AGS, poses a particular diagnostic challenge because it appears to be the most heterogeneous. It could present as cerebral palsy, acute demyelinating encephalomyelitis, metabolic/mitochondrial disease or systemic lupus erythematosus-like clinic. …