1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

Magma
Monika DezortovaMilan Hajek

Abstract

Total creatine (tCr) constitutes one of the most prominent signals in human brain MR spectra. A significant decrease in the tCr signal indicates a severe disorder of creatine metabolism. We describe the potential of 1H MR spectroscopy in differential diagnosis of creatine transporter (SLC6A8) deficiency syndrome. Two siblings, a 7-year-old female presenting with mild psychomotor delay, and a 5-year-old male with severe psychomotor retardation, epilepsy and autistic spectrum of problems including speech delay, underwent MR examination because of suspected creatine deficiency. After the MRI examination, 1H MR spectroscopy using the CSI technique was performed. Metabolic images of N-acetylaspartate, tCr and choline concentrations showed a very low tCr signal in the male, which was approximately three times lower than in his sister (male/female/controls: tCr=1.6/4.6/7.5 mM). Despite creatine supplementation, no improvement in clinical status and tCr concentration in the MR spectra of the male was observed and diagnosis of SLC6A8 deficiency was proposed. Sequence analysis of the SLC6A8 gene revealed a novel pathogenic frameshift mutation c.219delC; p.Asn74ThrfsX23, hemizygous in the male and heterozygous in the female. The diagnosis...Continue Reading

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Citations

Jan 19, 2012·Journal of Inherited Metabolic Disease·Olivier Braissant
May 7, 2013·Journal of Medical Genetics·J M van de KampG S Salomons
May 11, 2011·Journal of Inherited Metabolic Disease·Jiddeke M van de KampGrazia M S Mancini
May 3, 2014·Journal of Inherited Metabolic Disease·Jiddeke M van de KampGajja S Salomons
Jan 28, 2012·Molecular Genetics and Metabolism·Ofir T BetsalelGajja S Salomons

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