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Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation

Sa, M; Hacohen, Y; Alderson, L; Chong, WKK; Anderson, G; Jacques, TS; Neubauer, D; ... Kaliakatsos, M; + view all (2018) Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation. European Journal of Paediatric Neurology , 22 (5) pp. 882-888. 10.1016/j.ejpn.2018.04.010. Green open access

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Abstract

Subacute neuroregression in association with raised neopterin and overexpression of interferon stimulated genes (ISGs) could indicate a type 1 interferonopathy. Here we describe a novel immunotherapy-responsive, clinico-immunological and imaging phenotype with evidence of innate immune activation. Three children (patient 1: 22-month-old boy; patient 2: 5-year-old girl; patient 3: 4-year-old girl) presented with asymmetric bilateral mixed dystonia and spasticity, regression in language (expressive more than receptive) and bulbar symptoms with no evidence of seizures. Symptoms evolved over several weeks to months. Brain MRI changes mimicked cerebral atrophy, initially asymmetric. CSF revealed raised neopterins. Blood RNA assay showed abnormal overexpression of ISGs and transient raised alanine aminotransferase (ALT). Importantly, all three children were treated with intravenous methylprednisolone and immunoglobulin with significant and sustained improvement in their motor and language function, and normalisation of imaging. Immune-mediated encephalitis can masquerade as subacute neuroregression.

Type: Article
Title: Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ejpn.2018.04.010
Publisher version: https://doi.org/10.1016/j.ejpn.2018.04.010
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Neuroregression, Encephalitis, Brain atrophy, Interferonopathy, Neopterins, Dystonia, Spasticity, Bulbar palsy, Speech regression, Motor regression, Immunotherapy, Neurodegeneration, Innate immune system
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neuroinflammation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10070383
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