The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

doi:10.1016/s0887-8994(97)00028-3

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Article

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

Pediatric neurology - 1 May 1997

Verrips A, Hiel J A, Gabreëls F J, Wesseling P, Rotteveel J J

Abstract excerpt

We report 2 siblings with the Aicardi-Goutières syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a...

Topics

Basal Ganglia Diseases
Brain Diseases
Calcinosis
Child
Child, Preschool
Genes, Recessive
Genetic Variation
Humans
Male
Syndrome

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