Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Abstract

Cerebral metabolic abnormalities have been previously detected by 1H-MRS in infants with the Zellweger syndrome as young as 3 months. We hypothesized that metabolic abnormalities could also be found shortly after birth. Two fullterm infants with Zellweger syndrome were studied at 12 days and two months of age, respectively, using single voxel 1H-MRS. In the first case 1H-MRS was performed using PRESS with variable TE (31, 136, 272 ms); in the second, STEAM and PRESS sequences were used with different TE (STEAM at 30 and 144 ms; PRESS at 270 ms). In both cases a significant decrease of N-acetylaspartate (NAA) and an abnormal signal at 1.33 and 0.9 ppm, consisting of lactate (Lac) and lipids (Lip) were found. The reported MRS abnormalities, although not specific for peroxisomal dysfunctions, may support the suspicion of Zellweger syndrome and may indicate direct referral to the specific laboratory and molecular studies necessary to establish the diagnosis and prognosis of this syndrome.

Evidence for altered hippocampal volume and brain metabolites in workers occupationally exposed to lead: A study by magnetic resonance imaging and 1H magnetic resonance spectroscopy

“…In normal brain tissue, lipids are present in cell membrane and myelin sheath. When these structures are injured, the lipids are consequently released to generate free lipid molecules, which can be captured by MRS spectra at the wave crests of 0.9 ppm and 1.3 ppm (Groenendaal et al, 2001). Since Pb is known to generate free radicals and cause oxidative stress in brain (Bennet et al, 2007; Bolin et al, 2006; Chetty et al, 2007), the observed increase in Lip/Cr among Pb-exposed workers may reflect the Pb-induced lipid peroxidation in brain tissues.…”

Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy

“…The 1.3 ppm peak is several times taller than the 0.9 ppm peak in the mobile lipids commonly seen in toxoplasmosis, lymphomas and high-grade gliomas. Approximately equal-sized peaks have been seen in Zellweger syndrome (11,12), an example of which will be shown below and progressive multifocal leukoencephalopathy (PML) (13)(14)(15)(16)(17)(18). In contrast, a single broad peak usually indicates contamination with skull lipids.…”

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

“…5 1 H-MR spectroscopy shows ongoing metabolite changes during infancy. 6,7 Following its biochemical definition patients were identified with peroxisome biogenesis disorder (PBD), biochemically similar to but clinically different from ZS, having more prolonged survival, sometimes even into adulthood, and variability in clinical outcome. 8 ZS related PBD include neonatal adrenoleukodystrophy (NALD) 9,10 and infantile Refsum disease (IRD).…”