Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy

Pediatr Radiol. 2023 Mar;53(3):561-563. doi: 10.1007/s00247-022-05503-7. Epub 2022 Sep 22.

Abstract

Liberfarb syndrome is an extremely rare mitochondrial multisystem disorder, recently described and characterized by early-onset retinal degeneration and sensorineural hearing loss, spondyloepimetaphyseal dysplasia, joint laxity, short stature, microcephaly, developmental delay and intellectual disability, but clinical variability has been observed. We report a case that presented to the hospital with a flare-up of the disease. We describe the brain magnetic resonance imaging findings, which are still not well characterized, to raise awareness of this diagnosis.

Keywords: Brain; Children; Hypomyelination; Liberfarb syndrome; Magnetic resonance imaging; Mitochondrial disease; Skeletal dysplasia.

MeSH terms

  • Atrophy / pathology
  • Cerebellar Diseases* / pathology
  • Humans
  • Intellectual Disability* / pathology
  • Neuroimaging
  • Optic Nerve