Neuroimaging findings in a brain with Niemann-Pick type C disease
Journal
Journal of the Formosan Medical Association
Journal Volume
110
Journal Issue
8
Pages
537-542
Date Issued
2011
Author(s)
Abstract
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.
SDGs
Other Subjects
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
Type
journal article