Literature DB >> 7603599

Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report.

Y Miyanomae1, M Ochi, H Yoshioka, K Takaya, Z Kizaki, F Inoue, S Furuya, S Naruse.   

Abstract

We report MRI and MRS of the brain in a patient with Sjögren-Larsson syndrome (SLS) in whom fatty alcohol oxidoreductase (FAO) deficiency has been verified. MRI showed periventricular lesions, high intensity on T2-weighted and low intensity on T1-weighted images at trigones of the lateral ventricles. 1H-MRS of these lesions revealed high lipid and low N-acetyl aspartate peaks. We presume such lipids in periventricular lesions with high T2 signal may be pathognomonic of SLS.

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Year:  1995        PMID： 7603599     DOI： 10.1007/BF01578262

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  14 in total

1.  Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome.

Authors:  M R Judge; B D Lake; V V Smith; G T Besley; J I Harper
Journal:  J Invest Dermatol       Date:  1990-12       Impact factor: 8.551

2.  Proton magnetic resonance spectroscopy for metabolic characterization of plaques in multiple sclerosis.

Authors:  P M Matthews; G Francis; J Antel; D L Arnold
Journal:  Neurology       Date:  1991-08       Impact factor: 9.910

3.  1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders.

Authors:  M S van der Knaap; J van der Grond; P R Luyten; J A den Hollander; J J Nauta; J Valk
Journal:  Ann Neurol       Date:  1992-02       Impact factor: 10.422

4.  Proton magnetic resonance spectroscopy in multiple sclerosis.

Authors:  J S Wolinsky; P A Narayana; M J Fenstermacher
Journal:  Neurology       Date:  1990-11       Impact factor: 9.910

5.  Pathology, histochemistry and immunocytochemistry of lesions in acute multiple sclerosis.

Authors:  C W Adams; R N Poston; S J Buk
Journal:  J Neurol Sci       Date:  1989-09       Impact factor: 3.181

6.  Human brain infarction: proton MR spectroscopy.

Authors:  J H Duijn; G B Matson; A A Maudsley; J W Hugg; M W Weiner
Journal:  Radiology       Date:  1992-06       Impact factor: 11.105

7.  Pathology of the Sjögren-Larsson syndrome.

Authors:  H S Baar; J Galindo
Journal:  J Maine Med Assoc       Date:  1965-10

8.  Proton magnetic resonance spectroscopic imaging for metabolic characterization of demyelinating plaques.

Authors:  D L Arnold; P M Matthews; G S Francis; J O'Connor; J P Antel
Journal:  Ann Neurol       Date:  1992-03       Impact factor: 10.422

9.  Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

Authors:  W B Rizzo; A L Dammann; D A Craft; S H Black; A H Tilton; D Africk; E Chaves-Carballo; G Holmgren; S Jagell
Journal:  J Pediatr       Date:  1989-08       Impact factor: 4.406

10.  Cranial CT in the Sjogren-Larsson syndrome.

Authors:  L J Mulder; A P Oranje; M C Loonen
Journal:  Neuroradiology       Date:  1987       Impact factor: 2.804
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  8 in total

1.  Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.

Authors:  H Rosewich; P Dechent; C Krause; A Ohlenbusch; K Brockmann; J Gärtner
Journal:  J Inherit Metab Dis       Date:  2016-08-03       Impact factor: 4.982

Review 2.  Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Authors:  William B Rizzo
Journal:  Mol Genet Metab       Date:  2006-09-22       Impact factor: 4.797

Review 3.  Clinical 1H MRS in childhood neurometabolic diseases - part 2: MRS signatures.

Authors:  Matthew T Whitehead; Lillian M Lai; Stefan Blüml
Journal:  Neuroradiology       Date:  2022-02-28       Impact factor: 2.804

4.  MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Authors:  Michèl A A P Willemsen; Marinette Van Der Graaf; Marjo S Van Der Knaap; Arend Heerschap; Peter H M F Van Domburg; Fons J M Gabreëls; Jan J Rotteveel
Journal:  AJNR Am J Neuroradiol       Date:  2004-04       Impact factor: 3.825

5.  Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

Authors:  William B Rizzo
Journal:  Expert Opin Orphan Drugs       Date:  2016-03-10       Impact factor: 0.694

6.  Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.

Authors:  Carlos R Ferreira; Molly H Silber; Taeun Chang; Jonathan G Murnick; Brian Kirmse
Journal:  JIMD Rep       Date:  2015-11-05

7.  Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.

Authors:  Hiroshi Doi; Masao Ushiyama; Takashi Baba; Katsuko Tani; Masaaki Shiina; Kazuhiro Ogata; Satoko Miyatake; Yoko Fukuda-Yuzawa; Shoji Tsuji; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Shu-ichi Ikeda; Fumiaki Tanaka; Naomichi Matsumoto; Kunihiro Yoshida
Journal:  Sci Rep       Date:  2014-11-24       Impact factor: 4.379

Review 8.  Sjogren-Larsson Syndrome: Mechanisms and Management.

Authors:  Parayil Sankaran Bindu
Journal:  Appl Clin Genet       Date:  2020-01-07
  8 in total

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