Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES)
| Autor: | Kathryn O’Kane, Claire E Anderson, Manju A. Kurian, Jennifer Anderson, Angela Vincent, Russell C. Dale, Marjorie A Illingworth, J. Helen Cross, Donncha Hanrahan, Carlos de Sousa, Sukvhir Wright, Maureen Casey |
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| Rok vydání: | 2011 |
| Předmět: |
Pediatrics
medicine.medical_specialty Wechsler Preschool and Primary Scale of Intelligence Neuromyotonia business.industry Limbic encephalitis Neuropsychology Azathioprine Status epilepticus medicine.disease Epilepsy Developmental Neuroscience Pediatrics Perinatology and Child Health medicine Neurology (clinical) medicine.symptom Cognitive decline Psychiatry business medicine.drug |
| Zdroj: | Developmental Medicine & Child Neurology. 53:1053-1057 |
| ISSN: | 0012-1622 |
| DOI: | 10.1111/j.1469-8749.2011.04008.x |
| Popis: | Fever-induced refractory epileptic encephalopathy in school-age children (FIRES) is a clinically recognized epileptic encephalopathy of unknown aetiology. Presentation in previously healthy children is characterized by febrile status epilepticus. A pharmacoresistant epilepsy ensues, occurring in parallel with dramatic cognitive decline and behavioural difficulties. We describe a case of FIRES in a 4-year-old boy that was associated with elevated voltage-gated potassium channel (VGKC) complex antibodies and a significant clinical and immunological response to immunomodulation. This case, therefore, potentially expands the clinical phenotype of VGKC antibody-associated disease to include that of FIRES. Prior to immunomodulation, neuropsychology assessment highlighted significant attention, memory, and word-finding difficulties. The UK version of the Wechsler Preschool and Primary Scale of Intelligence assessment indicated particular difficulties with verbal skills (9th centile). Immunomodulation was initially administered as intravenous methylprednisolone (followed by maintenance oral prednisolone) and later in the disease course as regular monthly intravenous immunoglobulin infusions and low-dose azathioprine. Now aged 6 years, the seizure burden in this child is much reduced, although increased seizure frequency is observed in the few days before his monthly immunoglobulin infusions. Formal IQ assessment has not been repeated but there is no clinical suggestion of further cognitive regression. VGKC complex antibodies have been reported in a range of central and peripheral neurological disorders (predominantly presenting in adulthood), and the identification of elevated VGKC complex antibodies, combined with the response to immunotherapies in this child, supports an autoimmune pathogenesis in FIRES with potential diagnostic and therapeutic implications. |
| Databáze: | OpenAIRE |
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