Abstract #2012
Proton MRS shows cerebral lipid accumulation in Chanarin-Dorfman Syndrome
Marinette van der Graaf 1 , Marleen CDG Huigen 1 , Eva Morava 1,2 , A Carin M Dassel 3 , Maurice AM van Steensel 4,5 , Marieke MB Seyger 1 , Ron A Wevers 1 , and Michl A Willemsen 1
1
Radboud University Medical Center, Nijmegen,
Netherlands,
2
Tulane
University Medical School, New Orleans, LA, United
States,
3
Deventer
Hospital, Deventer, Netherlands,
4
Maastricht
University Medical Center, Maastricht, Netherlands,
5
Institute
of Medical Biology, Immunos, Singapore
A patient with congenital ichthyosis suspected of having
Sjgren-Larsson syndrome (SLS) underwent cerebral MRS
measurements in which the typical pattern of SLS was
expected with a high lipid resonance in white matter.
However, this particular patient showed overall cerebral
lipid accumulation not restricted to only white matter.
Further metabolic and genetic screening led to the
diagnosis of Chanarin-Dorfman Syndrome (CDS) caused by a
defect in the CGI-58/ABHD5 gene. The finding of cerebral
lipid accumulation in CDS was reproduced in another
patient with genetically proven CDS. To our knowledge
these MRS results demonstrate for the first time
cerebral involvement in CDS.
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