This infant is having a stroke: an illustrative case report.

BACKGROUND: Paediatric stroke is a rare event, and timely intervention is required to minimise long-term disability, reduced quality of life and financial implications. Although reperfusion strategies such as thrombolysis and thrombectomy are now well established in the adult population, and paediatric consensus guidelines allow for reperfusion therapies in children, access is currently limited due to diagnostic delays. This challenge is partly due to the rarity of presentation, infrastructure and public awareness to support early diagnosis as exists in the adult setting. We use an illustrative case and literature to describe an achieved case of paediatric stroke within an Irish setting. METHODS: We use the case of an 8-month-old male infant presenting with acute-onset left-sided hemiplegia to illustrate what can be achieved in an Irish setting. RESULTS: Stroke was identified quickly following presentation, timely neuroimaging and multidisciplinary involvement with disposition to paediatric intensive care unit where thrombolysis was administered. Although the patient has some speech delay, he is recovering well with normal gross motor function. CONCLUSIONS: Paediatric stroke care should be available to all children presenting with acute stroke symptoms; however, the rarity of the diagnosis would suggest a national strategy will be required to provide equitable care at a national level.

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.

Next generation sequencing provides an important opportunity for improved diagnosis in epilepsy. To date, the majority of diagnostic genetic testing is conducted in the paediatric arena, while the utility of such testing is less well understood in adults with epilepsy. We conducted whole exome sequencing (WES) and copy number variant analyses in an Irish cohort of 101 people with epilepsy and co-morbid intellectual disability to compare the diagnostic yield of genomic testing between adult and paediatric patients. Variant interpretation followed American College of Medical Genetics and Genomics (ACMG) guidelines. We demonstrate that WES, in combination with array-comparative genomic hybridisation, provides a diagnostic rate of 27% in unrelated adult epilepsy patients and 42% in unrelated paediatric patients. We observe a 2.7% rate of ACMG-defined incidental findings. Our findings indicate that WES has similar utility in both adult and paediatric cohorts and is appropriate for diagnostic testing in both epilepsy patient groups.