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

Dezortova, Monika ; Jiru, Filip ; Petrasek, Jan ; Malinova, Vera ; Zeman, Jiri ; Jirsa, Milan ; Hajek, Milan

Magma (New York, N.Y.), 2008-09, Vol.21 (5), p.327-332 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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Título:
1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency
Autor: Dezortova, Monika ; Jiru, Filip ; Petrasek, Jan ; Malinova, Vera ; Zeman, Jiri ; Jirsa, Milan ; Hajek, Milan
Assuntos: Base Sequence ; Biochemistry ; Biomedical Engineering and Bioengineering ; Brain ; Brain - metabolism ; Brain - pathology ; Child ; Child, Preschool ; Computer Appl. in Life Sciences ; Creatine - deficiency ; Diagnosis, Differential ; DNA Primers - genetics ; Female ; Health Informatics ; Humans ; Imaging ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy - methods ; Male ; Medical diagnosis ; Medicine ; Medicine & Public Health ; Mental Retardation, X-Linked - diagnosis ; Mental Retardation, X-Linked - genetics ; Mental Retardation, X-Linked - metabolism ; Metabolism ; Nerve Tissue Proteins - deficiency ; Nerve Tissue Proteins - genetics ; NMR ; Nuclear magnetic resonance ; Plasma Membrane Neurotransmitter Transport Proteins - deficiency ; Plasma Membrane Neurotransmitter Transport Proteins - genetics ; Radiology ; Research Article ; Solid State Physics ; Spectrum analysis
É parte de: Magma (New York, N.Y.), 2008-09, Vol.21 (5), p.327-332
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
Descrição: Objective 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 1 H MR spectroscopy in differential diagnosis of creatine transporter (SLC6A8) deficiency syndrome. Materials and methods 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, 1 H MR spectroscopy using the CSI technique was performed. Results 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. Conclusions The diagnosis of X-linked mental retardation caused by the SLC6A8 deficiency can be independently established by 1 H MR spectroscopy.
Editor: Berlin/Heidelberg: Springer-Verlag
Idioma: Inglês

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

Dezortova, Monika ; Jiru, Filip ; Petrasek, Jan ; Malinova, Vera ; Zeman, Jiri ; Jirsa, Milan ; Hajek, Milan

Berlin/Heidelberg: Springer-Verlag

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