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

Research output: Contribution to journalArticlepeer-review

Mario Sa, Yael Hacohen, Lucy Alderson, WK ‘Kling’ Chong, Glenn Anderson, Thomas S. Jacques, David Neubauer, Elzbieta Szczepanik, Ming Lim, Marios Kaliakatsos

Original languageEnglish
JournalEuropean Journal of Paediatric Neurology
Early online date27 Apr 2018
Accepted/In press22 Apr 2018
E-pub ahead of print27 Apr 2018


King's Authors


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.

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