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Case Reports
. 2012 Mar;33(3):E34-5.
doi: 10.3174/ajnr.A2455. Epub 2011 Apr 21.

MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome

A N Merkle  1 , D R Nascene, A M McKinney
Affiliations
Case Reports

MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome

A N Merkle et al. AJNR Am J Neuroradiol. 2012 Mar.

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.

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Figures

Fig 1.
Fig 1.
At 5 months of age, the male sibling had mild moderately delayed myelination on T1WI (not shown). A and B, There was abnormal T2 hyperintensity (arrows) extending from the reticulospinal tracts at the cervicomedullary junction up to the reticular formation of the medulla and pons, without reduced diffusion on diffusion-weighted imaging (not shown). 1H-MR spectroscopy (not shown) did not demonstrate a lactate peak.
Fig 2.
Fig 2.
At 5 weeks of age, the female sibling did not have overt hypomyelination on T1WI (not shown). A–C, However, there was abnormal hyperintensity on T2WI (arrows), extending from the reticulospinal tracts at the cervicomedullary junction up to the reticular formation of the medulla and pons in a distribution similar to that of her sibling.
See this image and copyright information in PMC

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