RT Journal Article
SR Electronic
T1 MR Imaging Findings in the Reticular Formation in Siblings with <em>MPV17-</em>Related Mitochondrial Depletion Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP E34
OP E35
DO 10.3174/ajnr.A2455
VO 33
IS 3
A1 A.N. Merkle
A1 D.R. Nascene
A1 A.M. McKinney
YR 2012
UL http://www.ajnr.org/content/33/3/E34.abstract
AB SUMMARY: Hepatocerebral MPV17-MDS is quite rare (&lt;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. 1H-MR spectroscopyproton MR spectroscopyMDSmitochondrial depletion syndromeMPV17-MDSMPV17-related mitochondrial depletion syndromeT1WIT1-weighted imagingT2WIT2-weighted imaging