Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome.

Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Research Abstract Details 

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Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Abstract Text:

F Groenendaal,M C Bianchi,R Battini,M Tosetti,A Boldrini,L S de Vries,G Cioni,F Groenendaal,M C Bianchi,R Battini,M Tosetti,A Boldrini,L S de Vries,G Cioni,

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.

Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Publishing Authors By Initials

F Groenendaal,MC Bianchi,R Battini,M Tosetti,A Boldrini,LS de Vries,G Cioni,F Groenendaal,MC Bianchi,R Battini,M Tosetti,A Boldrini,LS de Vries,G Cioni,

For similar digestive system diseases: liver diseases: zellweger syndrome research abstracts see: digestive system diseases: liver diseases: zellweger syndrome research

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Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neuropediatrics

VOLUME: 32

Page Numbers: 23-7

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Feb

YEAR: 2001

Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Keywords Mesh Terms:

KEYWORDS: Zellweger Syndrome

MESH TERMS: physiopathology

Chemical & Substance for Abstract: Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome. Information

Substance Name: N-acetylaspartate

Registry Number: 997-55-7

Grant and Affiliation Information for Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome.

AFFILIATION: Department of Neonatology, Wilhelmina Children's Hospital University Medical Center, Utrecht, The Netherlands.

Country: Germany

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MEDLINETA: Neuropediatrics

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