{
  "abstract": "Background Pathogenic variants in the WDR45 gene are typically associated with a spectrum of neurodevelopmental and neurodegenerative disorders. Characteristic clinical features include intellectual disability, epilepsy and stereotypies, developmental regression, dystonia and behavioral changes. We report a rare clinical entity of a WDR45 mutation associated with abnormal brain iron accumulation on MRI known as beta-propeller protein-associated neurodegeneration (BPAN).Methods Case Report.Results A 30-year-old female with a background of significant global developmental delay presented with a 6-month history of progressive functional and cognitive decline with stereotyped episodes of unresponsiveness. Her carers also noted worsening proximal weakness, new urinary incontinence and increased apathy.EEG demonstrated generalized slowing without epileptiform activity. MRI brain revealed basal ganglia changes with SWI signal abnormality and T2 hypointensity suggestive of neurodegeneration with brain iron accumulation.Genetic testing demonstrated heterozygosity for a pathogenic variant in the WDR45 gene which was consistent with the phenotype. The patient and her family were referred for genetic counselling. Baclofen was commenced with symptomatic benefit.Conclusions Secondary progression in adulthood in a static childhood encephalopathy should prompt the clinician to consider testing for WDR45 and related diagnoses.",
  "authors": [
    {
      "affiliations": [
        "Sir Charles Gairdner Hospital, Perth, WA, Australia"
      ],
      "name": "Sharanya Shanmugakumar"
    },
    {
      "affiliations": [
        "Sir Charles Gairdner Hospital, Perth, WA, Australia"
      ],
      "name": "Daniel Clarke"
    }
  ],
  "title": "3503 Childhood encephalopathy with neurodegeneration and brain iron accumulation on MRI: a novel pathogenic variant in the WDR45 gene",
  "uid": "bae0d938-3341-5daf-9000-6ea28a60525e"
}