title: Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
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.
authors.affiliation: Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.affiliation: Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.
authors.forename: Luan T
authors.initials: LT
authors.lastname: Tran
authors.affiliation: Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.
authors.forename: Kether
authors.initials: K
authors.lastname: Guerrero
authors.affiliation: Laboratory of Neurogenetics of Motion, Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Levesque
authors.affiliation: Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Sébire
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada.
authors.forename: Emilie
authors.initials: E
authors.lastname: Riou
authors.affiliation: Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
mesh_terms: D000367:Age Factors; D020274:Autoimmune Diseases of the Nervous System / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications / Q000175:diagnosis*; D009154:Mutation; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics / Q000473:pathology*; D020336:Paraparesis, Spastic / Q000150:complications / Q000175:diagnosis*; D012075:Remission, Spontaneous; D016914:Ribonuclease H / Q000235:genetics
chemical_list: C091139:ribonuclease HII; D016914:Ribonuclease H