Radiographic stabilisation of leukoencephalopathy with calcification and cysts, an intracerebral microangiopathy, with VEGF-A inhibitor bevacizumab

<h3>Background</h3> Leukoencephalopathy with calcifications and cysts (LCC) is a rare intracerebral microangiopathy causing progressive cysts, white matter lesions and calcifications. LCC is characterised by progressive cognitive impairment, seizures and a movement disorder. The cause is biallelic mutations in <i>SNORD118</i> involved in ribosomogenesis and ultimately, intracerebral angiogenesis. Case reports of VEGF inhibition suggest that it may be possible to halt the decline in LCC. <h3>Methods</h3> We describe a 31 year old lady with LCC (confirmed <i>SNORD118</i> mutations) who was commenced on 5mg/kg bevacizumab infusions fortnightly in April 2023 and monitored with MRI head 3-monthly for observation of progression of cyst volume and distribution of white matter changes. She was monitored for neutropaenia, thrombocytopaenia, and changes to urine:creatinine ratio at each infusion. <h3>Results</h3> After 9 months of treatment magnetic resonance imaging showed stabilisation of cysts, white matter changes and calcifications. The patient’s seizures remained stable with no change to anti- seizure medications. There were no adverse events and biochemical and haematological monitoring remained stable throughout. <h3>Discussion</h3> Individual funding request for off licence-prescribing is a common route for precision medicine prescribing for rare genetic disorders. We present a protocol for the use of VEGF-A inhibition in achieving radiographic stability in an adult with LCC.