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Journal of Pediatric Neurology 2010; 08(04): 411-415
DOI: 10.3233/JPN-2010-0420
Georg Thieme Verlag KG Stuttgart – New York

Aicardi-Goutières syndrome: A cause of CSF chronic hyperlymphocytosis

Rosana Akopova-Larbi
a   Department of Child and Adolescent Neurology, National Institute of Neurology, La Rabta, Tunis, Tunisia
,
Ilhem Ben Youssef Turki
a   Department of Child and Adolescent Neurology, National Institute of Neurology, La Rabta, Tunis, Tunisia
,
Ichraf Kraoua
a   Department of Child and Adolescent Neurology, National Institute of Neurology, La Rabta, Tunis, Tunisia
,
Neziha Gouider-Khouja
a   Department of Child and Adolescent Neurology, National Institute of Neurology, La Rabta, Tunis, Tunisia
› Author Affiliations
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Publication History

28 June 2008

21 July 2009

Publication Date:
30 July 2015 (online)

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Abstract

Aicardi-Goutières syndrome (AGS) is a rare infantile encephalopathy characterized by basal ganglia calcifications, leukodystrophy, chronic pleocytosis and elevated levels of interferon-alpha in cerebrospinal fluid. AGS is a clinically and genetically heterogeneous syndrome. We report an early onset case of AGS. Consanguinity, similar picture in the family and course suggested a familial metabolic encephalopathy. Extended basal ganglia calcifications and leukodystrophic changes on cerebral imaging, cerebrospinal fluid lymphocytosis and high interferon-alpha level allowed to diagnose AGS. We reviewed the literature and discussed the pathophysiology, differential diagnosis and treatment of this disorder.

Keywords

Infantile encephalopathy - microcephaly - basal ganglia calcifications - leukodystrophy - CSF lymphocytosis