Neuroimaging Findings in a Brain With Niemann–Pick Type C Disease

• Main Authors: Jei-Yie Huang, Sing-Fung Peng, Chih-Chao Yang, Kuo-Yang Yen, Kai-Yuan Tzen, Ruoh-Fang Yen
• Format: Article
• Language: English
• Published: Elsevier 2011-08-01
• Series: Journal of the Formosan Medical Association
• Subjects: glucose metabolism; Niemann-Pick type C disease; magnetic resonance imaging; positron emission tomography
• Online Access: http://www.sciencedirect.com/science/article/pii/S0929664611600806

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.