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

Autor:	Pinto, Eduarda, Pinto, Catarina, Ramos, Cristina, Alves, José E.
Předmět:	BRAIN imaging OPTIC nerve ATROPHY MAGNETIC resonance imaging MITOCHONDRIAL pathology
Zdroj:	Pediatric Radiology; Mar2023, Vol. 53 Issue 3, p561-563, 3p, 1 Black and White Photograph
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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