Literature DB >> 21713441

A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.

Yasuhiko Tachibana1, Noriko Aida, Keisuke Enomoto, Mizue Iai, Kenji Kurosawa.   

Abstract

We present a 5-year-old girl who was ultimately diagnosed with Sjögren-Larsson syndrome (SLS). Although her MRI findings were minimal compared to previously published cases, prominent and characteristic abnormal lipid peaks on single-voxel proton MR spectroscopy ((1)H-MRS) facilitated the diagnosis. This case emphasizes the importance and usefulness of (1)H-MRS in diagnosing SLS.

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21713441     DOI： 10.1007/s00247-011-2156-6

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  8 in total

1.  MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.

Authors:  Angèle Viola; Sylviane Confort-Gouny; Jean-Philippe Ranjeva; Brigitte Chabrol; Charles Raybaud; Francisca Vintila; Patrick J Cozzone
Journal:  AJNR Am J Neuroradiol       Date:  2002-03       Impact factor: 3.825

2.  Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders.

Authors:  H Bruhn; B Kruse; G C Korenke; F Hanefeld; W Hänicke; K D Merboldt; J Frahm
Journal:  J Comput Assist Tomogr       Date:  1992 May-Jun       Impact factor: 1.826

3.  MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

Authors:  Mauro Nakayama; Daniel G F Távora; Thereza C L Alvim; Alexandre C B Araújo; Rômulo L Gama
Journal:  Arq Neuropsiquiatr       Date:  2006-06       Impact factor: 1.420

4.  The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Authors:  W B Rizzo; G Carney; Z Lin
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

Review 5.  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

6.  MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.

Authors:  E K Embiruçu; M C G Otaduy; A K Taneja; C C Leite; Fernando Kok; L T Lucato
Journal:  AJNR Am J Neuroradiol       Date:  2010-02-11       Impact factor: 3.825

7.  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

8.  Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.

Authors:  Agneta Gånemo; Sten Jagell; Anders Vahlquist
Journal:  Acta Derm Venereol       Date:  2009       Impact factor: 4.437
  8 in total
  4 in total

Review 1.  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

2.  Genotype and phenotype variability in Sjögren-Larsson syndrome.

Authors:  Maximilian Weustenfeld; Reiner Eidelpes; Matthias Schmuth; William B Rizzo; Johannes Zschocke; Markus A Keller
Journal:  Hum Mutat       Date:  2018-11-26       Impact factor: 4.878

3.  1H-MR Spectroscopy of the Early Developmental Brain, Neonatal Encephalopathies, and Neurometabolic Disorders.

Authors:  Noriko Aida
Journal:  Magn Reson Med Sci       Date:  2021-08-21       Impact factor: 2.760

4.  A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma.

Authors:  Azita Tavasoli; Shirin Sayyahfar; Babak Behnam
Journal:  Korean J Pediatr       Date:  2016-06-30
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.