Affiliations: Department of Child and Adolescent Neurology, National
Institute of Neurology, La Rabta, Tunis, Tunisia
Note: [] Correspondence: Dr. Neziha Gouider-Khouja, Department of
Pediatric Neurology, National Institute of Neurology, La Rabta, 1007 Tunis,
Tunisia. Tel.: +216 71 578 617; +216 98 356 690; Fax: +216 71 573 197; E-mail:
[email protected]
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.
