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

Roberta La Piana; Luan T. Tran; Kether Guerrero; Bernard Brais; Sébastien Levesque; Guillaume Sébire; Emilie Riou; Geneviève Bernard

doi:10.1055/s-0034-1393710

Neuropediatrics, Table of Contents

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^*

¹Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada

²Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada

,

Luan T. Tran^*

³Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada

,

Kether Guerrero

³Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada

,

Bernard Brais

¹Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada

,

Sébastien Levesque

⁴Division of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada

,

Guillaume Sébire

³Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada

,

Emilie Riou

⁵Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada

,

Geneviève Bernard

³Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada

› Author Affiliations

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.

Keywords

Aicardi–Goutières syndrome - leukoencephalopathy - spastic paraparesis

Full Text

References

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