Literature DB >> 10398790

Accelerated phase of Chédiak-Higashi syndrome diffuse white-matter-enhancing lesions.

T E Herman1, B C Lee.   

Abstract

We present the CT and MRI findings of a patient with Chédiak-Higashi syndrome in the accelerated phase with marked white-matter abnormalities. Pathologic and clinical features allow diagnosis of this condition, which in this case had dramatic neuroradiographic manifestations not well described in previous reports.

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Year:  1999        PMID: 10398790     DOI: 10.1007/s002470050637

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


  3 in total

1.  Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.

Authors:  Valentina Lolli; Gustavo Soto Ares; Jean-Pierre Pruvo; Wadih Abou Chahla; Patrice Jissendi-Tchofo
Journal:  Pediatr Radiol       Date:  2015-02-10

2.  Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Authors:  Minal V Kekatpure; Venkatraman Bhat
Journal:  Ann Indian Acad Neurol       Date:  2020 Jan-Feb       Impact factor: 1.383

3.  Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.

Authors:  James D Weisfeld-Adams; Lakshmi Mehta; Janet C Rucker; Francine R Dembitzer; Arnold Szporn; Fred D Lublin; Wendy J Introne; Vikas Bhambhani; Michael C Chicka; Catherine Cho
Journal:  Orphanet J Rare Dis       Date:  2013-03-22       Impact factor: 4.123

  3 in total

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