title: MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome.
abstract: Hepatocerebral MPV17-MDS is quite rare (<30 confirmed cases), with limited findings described on MR imaging. We report 2 siblings having abnormalities within the reticular formation of the lower brain stem and within the reticulospinal tracts at the cervicocranial junction on T2WI. The presence of these MR imaging findings (relative to previous reports) raises the possibility that they represent subtle but characteristic findings corresponding to clinically observed abnormalities of tone encountered with this recently described disorder.
authors.affiliation: Department of Radiology, University of Minnesota, Minneapolis, Minnesota 55455, USA.
authors.forename: A N
authors.initials: AN
authors.lastname: Merkle
authors.forename: D R
authors.initials: DR
authors.lastname: Nascene
authors.forename: A M
authors.initials: AM
authors.lastname: McKinney
mesh_terms: D005260:Female; D006501:Hepatic Encephalopathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D012154:Reticular Formation / Q000473:pathology*; D035781:Siblings
chemical_list: C530370:MPV17 protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins