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 1H 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, 1H 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 1H MR spectroscopy.

• MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• DNA primery genetika   MeSH
• kreatin nedostatek   MeSH
• lidé MeSH
• magnetická rezonanční spektroskopie * metody   MeSH
• magnetická rezonanční tomografie MeSH
• mentální retardace vázaná na chromozom X diagnóza   genetika   metabolismus   MeSH
• mozek metabolismus   patologie   MeSH
• předškolní dítě MeSH
• proteiny nervové tkáně nedostatek   genetika   MeSH
• proteiny přenášející neurotransmitery přes plazmatickou membránu nedostatek   genetika   MeSH
• sekvence nukleotidů MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA primery MeSH
• kreatin MeSH
• proteiny nervové tkáně MeSH
• proteiny přenášející neurotransmitery přes plazmatickou membránu MeSH
• SLC6A8 protein, human MeSH Prohlížeč

The influence of iron deposits on T2 values and the content of metabolites in the brain of three patients with DNA proved pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome) was studied. An eye-of-the-tiger sign, a typical MR finding for PKAN, was observed in two patients with the same mutation. A hypointensive lesion in a whole globus pallidus was observed in the third patient with the additional mutation. T2 values in the globus pallidus of the patients were about 40% shorter than in controls (71/48 ms in controls vs. patients), which corresponds to the increase of Fe concentration based on the ferritin basis from 17 mg for controls to 48 mg (100 g wet brain weight) in PKAN patients. 1H MR spectroscopy (MRS) has mainly been used to describe neuronal damage represented by decreased NAA (6.4 mmol vs. 9 mmol) and Cr/PCr (7.0 mmol vs. 9.8 mmol) concentrations in the basal ganglia region of the patient group to controls; MRS is much more case-sensitive and describes individual development of the disease as demonstrated in the difference between the spectra of typical PKAN patients (1, 2), and the patient (3) with atypical PKAN development. Any significant changes of metabolite concentration with the exception glutamine, glutamate and GABA were found in the white matter.

• MeSH
• Hallervordenův-Spatzův syndrom genetika   metabolismus   MeSH
• lidé MeSH
• magnetická rezonanční spektroskopie * MeSH
• magnetická rezonanční tomografie * MeSH
• mladiství MeSH
• mutace MeSH
• neparametrická statistika MeSH
• železo metabolismus   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• železo MeSH

1H MR spectroscopy is routinely used for lateralization of epileptogenic lesions. The present study deals with the role of relaxation time corrections for the quantitative evaluation of long (TE=135 ms) and short echo time (TE=10 ms) 1H MR spectra of the hippocampus using two methods (operator-guided NUMARIS and LCModel programs). Spectra of left and right hippocampi of 14 volunteers and 14 patients with epilepsy were obtained by PRESS (TR/TE=5000/135 ms) and STEAM (TR/TE=5000/10 ms) sequences with a 1.5-T imager. Evaluation was carried out using Siemens NUMARIS software and the results were compared with data from LCModel processing software. No significant differences between the two methods of processing spectra with TE=135 ms were found. The range of relaxation corrections was determined. Metabolite concentrations in hippocampi calculated from spectra with TE=135 ms and 10 ms after application of correction coefficients did not differ in the range of errors and agreed with published data (135 ms/10 ms: NAA=10.2+/-0.6/10.4+/-1.3 mM, Cho=2.4+/-0.1/2.7+/-0.3 mM, Cr=12.2+/-1.3/11.3+/-1.3 mM). When relaxation time corrections were applied, quantitative results from short and long echo time evaluation with LCModel were in agreement. Signal intensity ratios obtained from long echo time spectra by NUMARIS operator-guided processing also agreed with the LCModel results.

• MeSH
• algoritmy * MeSH
• biologické modely * MeSH
• cholin metabolismus   MeSH
• diagnóza počítačová metody   MeSH
• dospělí MeSH
• epilepsie temporálního laloku diagnóza   metabolismus   MeSH
• hipokampus metabolismus   MeSH
• interpretace obrazu počítačem MeSH
• kreatin metabolismus   MeSH
• kyselina asparagová analogy a deriváty   metabolismus   MeSH
• lidé MeSH
• magnetická rezonanční spektroskopie metody   MeSH
• magnetická rezonanční tomografie metody   MeSH
• mapování mozku metody   MeSH
• proteiny nervové tkáně metabolismus   MeSH
• protony MeSH
• reprodukovatelnost výsledků MeSH
• senzitivita a specificita MeSH
• subtrakční technika MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH
• srovnávací studie MeSH
• validační studie MeSH
• Názvy látek
• cholin MeSH
• kreatin MeSH
• kyselina asparagová MeSH
• N-acetylaspartate MeSH Prohlížeč
• proteiny nervové tkáně MeSH
• protony MeSH