La spettroscopia protonica (1H MRS) è una nuova indagine che permette di ottenere informazioni sul metabolismo cerebrale in vivo ed è attualmente considerato un promettente strumento di studio delle malattie metaboliche cerebrali, soprattutto in ambito pediatrico.
Questo studio sintetizza le attuali applicazioni cliniche della 1H MRS nelle cerebropatie metaboliche pediatriche e descrive i risultati dell'esame di spettroscopia in un campione di bambini affetti da malattia mitocondriale e in due sorelline con disturbo del metabolismo della creatina cerebrale.
RossBKreisRErnstT: Clinical tool for the 90s: MRS and metabolite imaging. Eur J Radiol14: 128–140, 1992.
2.
RossBMichaelisT: Clinical application of MRS. Magn Reson Q10: 191–247, 1994.
3.
FrahmJHanefeldF: Localized proton magnetic resonance spectroscopy of cerebral metabolites. Neuropediatrics27 (2): 64–69, 1996.
4.
CastilloMKwockLMukhejiSK: Clinical application of proton MRS. Am J Neuroradiol17 (1): 1–15, 1996.
5.
WangZJZimmermannRASauterR: Proton MR spectroscopy of the brain: clinically useful information obtained in assessing CNS diseases in children. Am J Roentgenol167 (1): 191–199, 1996.
6.
ZimmermannRAWangZJ: The value of proton MR spectroscopy in pediatric metabolic brain disease. Am J Neuroradiol18 (10): 1872–1879, 1997.
7.
WangZJZimmermannRA: Proton MR spectroscopy of pediatric brain metabolic disorders. Neuroimaging Clinics of North America8 (4): 781–807, 1998.
8.
BianchiMCTosettiM: Spettroscopia RM protonica a Voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica. Rivista di Neuroradiologia12: 133–140, 1999.
9.
MatthewsPMPhilD: Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalopathies. Neurology43: 2484–2490, 1993.
10.
De StefanoNMatthewsPM: Short-term dichloroacetate treatment improves indices of cerebral mitochondrial disorders. Neurology45: 1193–1198, 1995.
11.
ClarkJMMarksMP: MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. Neurology46: 223–227, 1996.
12.
DetreJAWangZ: Regional variation in brain lactate in Leigh Syndrome by localized 1H magnetic resonance spectroscopy. Ann Neurol29: 218–221, 1991.
13.
MatudaSKitanoA: Pyruvate dehydrogenase sub complex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria. Clin Chim Acta140 (1): 59–64, 1984.
14.
TaylorJRobinsonBHSherwoodWG: A defect in branched-chain aminoacid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency. Pediatr Res12 (1): 60–62, 1978.
15.
PatelTBDebuysereMS: Studies on the regulation of the branched chain alpha- keto acid dehydrogenase in the perfused rat liver. J Biol Chem256 (17): 9009–9015, 1981.
16.
WaymackPPDebuysereMSOlsonMS: Studies on the activation and inactivation of the branched chain alpha- keto acid dehydrogenase in the perfused rat heart. J Biol Chem255 (20): 9773–9781, 1980.
17.
CraigenWJ: Leigh disease with deficiency of lipoamide dehydrogenase: treatment with dichloroacetate. Pediatr Neurol14 (1): 69–71, 1996.
18.
GriffithsR: The abilities of babies: A study in mental measurement. The Test Agency Limited, Oxon (UK)1986.
19.
GriffithsR: The abilities of young children: A comprehensive system of mental measurement for the first eight years of life. The Test Agency Limited, Oxon (UK)1984.
20.
LevineMN: Leiter international performance scale: A handbook. Western Psychological Services, Los Angeles (CA)1982.
21.
StocklerSHanefeldFFrahmJ: Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet348: 789–790, 1996.
SchulzeAHessT: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatrics131 (4): 626–631, 1997.
