Neuropediatrics 2014; 45(06): 406-410
DOI: 10.1055/s-0034-1393710
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi–Goutières Syndrome

Roberta La Piana*
1   Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada
2   Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada
,
Luan T. Tran*
3   Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada
,
Kether Guerrero
3   Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada
,
Bernard Brais
1   Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada
,
Sébastien Levesque
4   Division of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada
,
Guillaume Sébire
3   Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada
,
Emilie Riou
5   Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada
,
Geneviève Bernard
3   Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada
› Author Affiliations
Further Information

Publication History

07 July 2014

31 July 2014

Publication Date:
24 October 2014 (online)

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Abstract

Aicardi–Goutières syndrome (AGS) is a rare genetic disorder with inflammatory immune-mediated pathogenesis. Disease onset is most commonly marked by recurrent fevers, irritability, and developmental regression in the 1st year of life. A stable phase characterized by severe spastic quadriparesis and cognitive deficit follows. Brain calcifications, leukoencephalopathy, and cerebral atrophy are the radiological hallmarks of AGS and often show progression over time. We present an atypical patient with late-onset AGS characterized by spastic paraparesis and a leukoencephalopathy that markedly improved during follow-up, demonstrating a nonprogressive disease course and the exceptional amelioration of the white matter abnormalities.

* Roberta La Piana and Luan T. Tran share first authorship and contributed equally to this manuscript.