Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

S. Orcesi; A. Pessagno; R. Biancheri; R. La Piana; M. Mascaretti; A. Rossi; G. I. Rice; Y. J. Crow; E. Fazzi; E. Veneselli

doi:10.1016/j.ejpn.2007.10.005

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

S. Orcesi, A. Pessagno, R. Biancheri, R. La Piana, M. Mascaretti, A. Rossi, G. I. Rice, Y. J. Crow, E. Fazzi, E. Veneselli

Research output: Contribution to journal › Article › peer-review

Abstract

Aicardi-Goutières syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.

Original language	English
Pages (from-to)	408-411
Number of pages	4
Journal	European Journal of Paediatric Neurology
Volume	12
Issue number	5
DOIs	https://doi.org/10.1016/j.ejpn.2007.10.005
Publication status	Published - Sep 2008

Keywords

Aicardi-Goutières syndrome
Basal ganglia calcifications
Leukodystrophy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Neurology

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10.1016/j.ejpn.2007.10.005

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Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. / Orcesi, S.; Pessagno, A.; Biancheri, R.; La Piana, R.; Mascaretti, M.; Rossi, A.; Rice, G. I.; Crow, Y. J.; Fazzi, E.; Veneselli, E.

In: European Journal of Paediatric Neurology, Vol. 12, No. 5, 09.2008, p. 408-411.

Research output: Contribution to journal › Article › peer-review

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title = "Aicardi-Gouti{\`e}res syndrome presenting atypically as a sub-acute leukoencephalopathy",

abstract = "Aicardi-Gouti{\`e}res syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Gouti{\`e}res syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Gouti{\`e}res syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.",

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author = "S. Orcesi and A. Pessagno and R. Biancheri and {La Piana}, R. and M. Mascaretti and A. Rossi and Rice, {G. I.} and Crow, {Y. J.} and E. Fazzi and E. Veneselli",

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AU - Orcesi, S.

AU - Pessagno, A.

AU - Biancheri, R.

AU - La Piana, R.

AU - Mascaretti, M.

AU - Rossi, A.

AU - Rice, G. I.

AU - Crow, Y. J.

AU - Fazzi, E.

AU - Veneselli, E.

PY - 2008/9

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N2 - Aicardi-Goutières syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.

AB - Aicardi-Goutières syndrome is an autosomal recessive encephalopathy characterised by acquired microcephaly, basal ganglia calcifications, leukodystrophy, cerebral atrophy, chronic cerebrospinal lymphocytosis, and raised titres of interferon alpha in the cerebrospinal fluid. The disease onset is generally within the first months of life. We here report a case of Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy following satisfactory psychomotor development up to the age of 16 months. This case highlights the importance of considering Aicardi-Goutières syndrome in the differential diagnosis of an unexplained leukoencephalopathy and the possibility of later onset of the disease.

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Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

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Keywords

ASJC Scopus subject areas

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