1 result for “CACNA1A deletion”
Finding into death of HM Q
5y · Unknown·Aspiration pneumonia complicating a gastrointestinal illness in a child with cerebral palsy
HMQ was a 5-year-old with severe cerebral palsy (GMFCS level 5), genetic disability (CACNA1A deletion), intractable epilepsy, and aspiration risk who died from aspiration pneumonia following a gastrointestinal illness. He was exclusively fed via gastrostomy tube due to inability to swallow safely. He developed vomiting and diarrhoea on 6 June 2022 and deteriorated rapidly on 8 June 2022, dying at home despite emergency services attendance. The coroner found the care provided by his foster parents and Monash Health was comprehensive and appropriate. His prognosis was explicitly documented as 'guarded' with high risk of premature death. No prevention opportunities were identified. This case illustrates the challenges of managing complex medically fragile children at home and the importance of supporting families with appropriate medical oversight.
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