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 | |
| Publication status | Published - Sep 2008 |
Fingerprint
Keywords
- Aicardi-Goutières syndrome
- Basal ganglia calcifications
- Leukodystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Neurology
Cite this
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
}
TY - JOUR
T1 - Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy
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
Y1 - 2008/9
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.
KW - Aicardi-Goutières syndrome
KW - Basal ganglia calcifications
KW - Leukodystrophy
UR - http://www.scopus.com/inward/record.url?scp=48549098206&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=48549098206&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2007.10.005
DO - 10.1016/j.ejpn.2007.10.005
M3 - Article
C2 - 18069026
AN - SCOPUS:48549098206
VL - 12
SP - 408
EP - 411
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 5
ER -