MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis

被引:0
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作者
Seitz, D
Grodd, W
Schwab, A
Seeger, U
Klose, U
Nagele, T
机构
[1] Univ Tubingen, Dept Neuroradiol, Sect Expt MR, CNS, D-72076 Tubingen, Germany
[2] Univ Tubingen, Dept Neuropediat, Tubingen, Germany
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R74 [神经病学与精神病学];
学科分类号
摘要
PURPOSE: Late juvenile neuronal ceroid lipofuscinosis (NCL) is a lysosomal neurodegenerative disorder caused by the accumulation of lipopigment in neurons. Our purpose was to characterize the MR imaging and spectroscopic findings in three children with late infantile NCL. METHODS: Three children with late infantile NCL and three age-matched control subjects were examined by MR imaging and by localized MR spectroscopy using echo times of 135 and 5, Normalized peak integral values were calculated for N-acetylaspartate (NAA), choline, creatine, myo-inositol, and glutamate/glutamine. RESULTS: MR imaging revealed volume loss of the CNS, most prominently in the cerebellum. The T2-weighted images showed a hypointense thalamus and hyperintense periventricular white matter. Proton MR spectra revealed progressive changes, with a reduction of NAA and an increase of myo-inositol and glutamate/glutamine, In long-standing late infantile NCL, myoinositol became the most prominent resonance. Lactate was not detectable. CONCLUSION: MR imaging in combination with proton MR spectroscopy can facilitate the diagnosis of late infantile NCL and help to differentiate NCL from other neurometabolic disorders, such as mitochondrial or peroxisomal encephalopathies.
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页码:1373 / 1377
页数:5
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