THE AICARDI-GOUTIERES-SYNDROME - VARIABLE CLINICAL EXPRESSION IN 2 SIBLINGS

Authors
VERRIPS A HIEL JAP GABREELS PJM WESSELING P ROTTEVEEL JJ
Citation
A. Verrips et al., THE AICARDI-GOUTIERES-SYNDROME - VARIABLE CLINICAL EXPRESSION IN 2 SIBLINGS, Pediatric neurology, 16(4), 1997, pp. 323-325
Citations number
9
Categorie Soggetti
Clinical Neurology",Pediatrics
Journal title
Pediatric neurology → ACNP
ISSN journal
08878994
Volume
16
Issue
4
Year of publication
1997
Pages
323 - 325
Database
ISI
SICI code
0887-8994(1997)16:4<323:TA-VCE>2.0.ZU;2-U
Abstract
We report 2 siblings with the Aicardi-Goutieres syndrome (encephalopat hy, basal ganglia calcifications, and persistent cerebrospinal fluid p leiocytosis). The eldest sibling is severely retarded; his younger bro ther has only mild, slowly progressive neurological deficits, To our k nowledge, such a striking difference in clinical expression has not be en reported previously. (C) 1997 by Elsevier Science Inc. All rights r eserved.