Paediatrics Publications
Document Type
Article
Publication Date
1-2019
Journal
Pediatric Neurology
Volume
90
First Page
61
Last Page
65
URL with Digital Object Identifier
https://doi.org/10.1016/j.pediatrneurol.2018.08.007
Abstract
BACKGROUND: Autosomal recessive mutations in the nuclear Twinkle (C10orf2) gene cause a mitochondrial DNA depletion syndrome (MDS) characterized by early onset hepatoencephalopathy.
METHODS: We report a severe, early onset encephalopathy and multisystem failure case caused by novel recessive Twinkle gene mutations. Patient clinical, laboratory, and pathological features are reported and Twinkle-associated MDS literature reviewed.
RESULTS: Typical presentation includes symptom onset before age six months, failure to thrive, psychomotor regression, epileptic encephalopathy, sensory axonal neuropathy, cholestatic liver dysfunction, and occasionally, renal tubulopathy, movement disorders, and ophthalmoplegia. Death is typical before age four years.
CONCLUSIONS: In the differential diagnosis of early onset encephalopathy and multisystem failure, MDS should be considered.
Notes
Also available open access in Pediatric Neurology at https://doi.org/10.1016/j.pediatrneurol.2018.08.007