PT  - JOURNAL ARTICLE
AU  - A.N. Merkle
AU  - D.R. Nascene
AU  - A.M. McKinney
TI  - MR Imaging Findings in the Reticular Formation in Siblings with <em>MPV17-</em>Related Mitochondrial Depletion Syndrome
AID  - 10.3174/ajnr.A2455
DP  - 2012 Mar 01
TA  - American Journal of Neuroradiology
PG  - E34--E35
VI  - 33
IP  - 3
4099  - http://www.ajnr.org/content/33/3/E34.short
4100  - http://www.ajnr.org/content/33/3/E34.full
SO  - Am. J. Neuroradiol.2012 Mar 01; 33
AB  - SUMMARY: 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. 1H-MR spectroscopyproton MR spectroscopyMDSmitochondrial depletion syndromeMPV17-MDSMPV17-related mitochondrial depletion syndromeT1WIT1-weighted imagingT2WIT2-weighted imaging