https://scholars.lib.ntu.edu.tw/handle/123456789/514144
標題: | Neuroimaging findings in a brain with Niemann-Pick type C disease | 作者: | JEI-YIE HUANG STEVEN SHINN-FORNG PENG Yang C.-C. Yen K.-Y. KAI-YUAN TZEN RUOH-FANG YEN |
公開日期: | 2011 | 卷: | 110 | 期: | 8 | 起(迄)頁: | 537-542 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by impaired cellular functions in processing and transporting low-density lipoprotein-cholesterol. In this report, we present magnetic resonance imaging (MRI), magnetic resonance spectrography (MRS) and 18-fluoro-2-deoxyglucose positron emission tomography (PET) imaging results for a 22-year-old male NPC patient. The patient's two MRI studies (at age 19 years and 22 years) demonstrated progressive changes of brain atrophy that were more prominent at the frontal lobes, and hyperintense signals in bilateral parietal-occipital periventricular white matter. MRS (at age 19 years) revealed no significant decrease in N-acetyl aspartate/choline ratio in the left frontal central white matter. PET (at age 22 years) showed significant bilateral hypometabolism in the prefrontal cortex and dorsomedial thalamus, and hypermetabolism in the parietal-occipital white matter, lenticular nucleus of the basal ganglia, cerebellum and pons. The imaging findings noted by MRI, MRS and 18-fluoro-2-deoxyglucose PET offered a possible supplementary explanation for the clinical neurological symptoms of this NPC patient. ? 2011 Elsevier & Formosan Medical Association. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/514144 | ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(11)60080-6 | SDG/關鍵字: | antilipemic agent; choline; fluorodeoxyglucose f 18; lavostatin; n acetylaspartic acid; unclassified drug; adult; article; ataxia; basal ganglion; bone marrow biopsy; brain atrophy; brain metabolism; case report; cerebellum; cerebrospinal fluid analysis; deterioration; disease course; dysarthria; dysmetria; dysphagia; dystonia; follow up; frontal lobe; gastrostomy; gaze paralysis; hospital readmission; human; hypermetabolism; image enhancement; magnetic resonance spectrography; male; neuroimaging; neurologic examination; Niemann Pick disease; nuclear magnetic resonance imaging; occipital cortex; parietal cortex; pons; positron emission tomography; prefrontal cortex; spasticity; speech disorder; thalamus dorsomedial nucleus; white matter |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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