No evidence of variant Creutzfeldt-Jakob disease (vCJD) in undiagnosed UK children with neurodegenerative disease.
PHE ePoster Library. Winstone A. 09/10/18; 221290; 98
Dr. Annemarie Winstone
Dr. Annemarie Winstone
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Abstract Introduction: Undiagnosed UK children with progressive intellectual and neurological deterioration (PIND) were reviewed.Method: Surveillance for vCJD among UK children with PIND began in May 1997 using the British Paediatric Surveillance Unit's methodology. Data are gathered by questionnaire, telephone interview or site visit. Results: By July 2016 1958 cases met PIND criteria; 1749 (89%) had an underlying diagnosis (including 6 vCJD cases). 209 (11%) (111 male, 98 female) were undiagnosed. Ethnicity: White 104 (50%), Asian 85 (Pakistani 65, Indian 6, Bangladeshi 4, Asian unspecified 10) (41%), Black 5 (2%), other 7 (3%), not stated 8 (4%). Consanguinity rates: 51% overall and 91% in the 65 Pakistani families. 72/209 (34%) had a similarly affected relative (57 were siblings).There was no clinical evidence of vCJD among the 209 undiagnosed cases, although they had been thoroughly investigated. 114/209 were reported to have died: only 9 were known to have had full post mortem (PM) examinations, 3 had limited PMs. A low autopsy rate was also found in the diagnosed PIND cases, where 99% were diagnosed during life.Conclusion: 11% of PIND children were undiagnosed despite intensive investigation. High rates of consanguinity and of a positive family history suggest that many had (currently unrecognised) neurometabolic diseases. Post mortems are rarely performed so storage of selected tissues for DNA and other analyses is recommended in undiagnosed cases. External funding details Acknowledgement: funded by the NIHR Policy Research Programme (PR-ST-1216-10001). Views expressed are not necessarily those of the NHS, the NIHR or the Department of Health.
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