{
  "abstract": "Background COL4A1 gene mutations result in complex and pleiotropic phenotypes, manifesting with neurological, ophthalmic, and systemic symptoms. In particular, COL4A1-related disorders are strongly associated with intracerebral haemorrhages, ischaemic strokes, and small vessel disease.Case report We present the case of a middle-aged female with a history of childhood epilepsy and learning disability, who presented with tonic-clonic seizures requiring intubation and ventilation. The patient experienced rapid functional decline, becoming bed-bound, non-verbal, and dependent on gastrostomy feeding. Examination revealed fixed flexion deformities of the limbs and bilateral vision loss.Investigations showed multiple supra- and infra-tentorial haemorrhagic foci, along with severe confluent white matter changes. Cerebral angiography confirmed the presence of vasculopathy, while CSF studies and a lack of response to steroids ruled out an inflammatory process. An EEG was non-diagnostic, and further investigations excluded malignancy or embolic phenomena.Urgent genetic testing for hereditary causes of microhaemorrhages and adult-onset neurodegenerative disorders revealed a COL4A1 autosomal dominant mutation: COL4A1 c.2008G>A p.(Gly670Arg). Neurology MDT optimised the patient’s functional status before transitioning to Level 1 disability management.Discussion The existing literature on COL4A1-related disorders does not address the rapid functional and cognitive decline observed in this case, occurring in the absence of major trauma or head injury. We highlight the importance of early recognition and detection of genetic disorders in the differential diagnosis, as well as the need for optimising patient care through a MDT approach.lara.ali1@nhs.net",
  "authors": [
    {
      "affiliations": [
        "Queen’s Hospital, Romford"
      ],
      "name": "Ali Lara"
    },
    {
      "affiliations": [
        "Queen’s Hospital, Romford"
      ],
      "name": "Azzopardi Laura"
    },
    {
      "affiliations": [
        "Queen’s Hospital, Romford"
      ],
      "name": "Moshammet Noor"
    },
    {
      "affiliations": [
        "Queen’s Hospital, Romford"
      ],
      "name": "Oliveira Renato"
    },
    {
      "affiliations": [
        "Queen’s Hospital, Romford"
      ],
      "name": "Clayton Lisa"
    }
  ],
  "title": "55 COL4A1-related disorder with a rapid functional decline; a case report",
  "uid": "11b3fcc9-2082-51bb-9e0d-fc76ec7bfe92"
}