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Acute encephalopathy with reduced subcortical diffusion (AED), characterised by seizure onset and widespread reduced apparent diffusion coefficient in the cortex/subcortical white matter, is one of the most common acute encephalopathies in children in East Asia. This 14-year single-centre retrospective study on 34 patients with AED showed that therapeutic hypothermia was used for patients with more severe consciousness disturbance after the first seizure or second phase initiation, extrapolating from neonatal hypoxic encephalopathy and adult post-cardiac arrest syndrome. The basal ganglia/thalamus lesions and the Tada score were the poor outcome determinants in the multivariate analysis. The correlation between the worse outcomes and the duration from the first seizure to the initiation of therapeutic hypothermia was observed only in the patients with AED cooled before the second phase. This correlation was not observed in the overall AED population. There was a moderate negative association between the worse outcomes and the duration between the first seizure and the second phase. Therefore, the basal ganglia/thalamus lesions and the Tada score were the outcome determinants for patients with AED. Further investigation is required to examine the efficacy of therapeutic hypothermia in this population while considering the timing of the therapeutic hypothermia initiation and the second phase.

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Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy typically exhibit hypoparathyroidism, adrenocortical failure, and chronic mucocutaneous candidiasis. There are only a few case reports of autoimmune encephalitis during autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, but not as an initial manifestation. Furthermore, there are no reports of patients with infantile spasms/West syndrome with autoimmune encephalitis, partly because the median age for paediatric patients with anti-N-methyl-D-aspartate receptor encephalitis, which is the most frequent and best characterised in paediatric autoimmune encephalitides, is 13–14 years. Herein, we present a case of a 3-month-old infant with autoimmune encephalitis as an initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy who later developed infantile spasms/West syndrome.Case Presentation: A 3-month-old girl was admitted to our hospital with a fever, involuntary movements in all four limbs, and right-side facial palsy. Acute central nervous system demyelination diseases were suspected from neuroimaging findings and the presence of the cerebrospinal fluid oligoclonal band. She did not respond to multiple methylprednisolone pulse therapies and later developed infantile spasms/West syndrome and diabetes mellitus. Rituximab, a chimeric mouse/human monoclonal antibody directed against human CD20 which depletes B cells, was initially administered as a treatment for autoimmune encephalitis. Unexpectedly, this treatment resulted in complete spasm cessation and resolution of hypsarrhythmia. The patient eventually showed severely delayed developmental milestones, and her electroencephalography findings showed periodic generalised slow spike-and-wave pattern.Conclusions: Despite the limited ability to extrapolate findings from a single case, rituximab's effects may suggest that B cells play a crucial role in infantile spasms/West syndrome mechanisms; use of rituximab as an aetiology-specific treatment for infantile spasms/West syndrome patients with autoimmune encephalitis or its effectiveness for infantile spasms/West syndrome patients with other underlying mechanisms warrants further investigation.

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