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AICARDI-GOUTIERES SYNDROME [1 record]

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Record 1 2010-06-30

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
DEF

A progressive encephalopathy with calcification of the basal ganglia, excessive number of lymphocytes in the cerebrospinal fluid (lymphocytosis), brain atrophy, and early death.

OBS

Elevated level of inteferon-alpha in the brain fluids - in the absence of infection - is a marker for the disorder.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Encéphalopathie familiale à transmission autosomale récessive associant des calcifications des noyaux gris centraux, une atteinte de la myéline et une lymphocytose du liquide céphalo-rachidien (LCR).

OBS

Ces encéphalopathies se présentent cliniquement comme une foetopathie virale et le diagnostic n'est encore souvent porté que lorsqu'un second cas apparaît dans la famille.

Spanish

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