Literature DB >> 25875633

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

Valentina Lolli1, Gustavo Soto Ares, Jean-Pierre Pruvo, Wadih Abou Chahla, Patrice Jissendi-Tchofo.   

Abstract

Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well.

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Year:  2015        PMID： 25875633     DOI： 10.1007/s00247-014-3256-x

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


  8 in total

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

Authors:  T E Herman; B C Lee
Journal:  Pediatr Radiol       Date:  1999-07

Review 2.  Modern management of children with haemophagocytic lymphohistiocytosis.

Authors:  Gritta E Janka; E M Schneider
Journal:  Br J Haematol       Date:  2004-01       Impact factor: 6.998

3.  Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement.

Authors:  Ines Rego; Mariasavina Severino; Concetta Micalizzi; Maura Faraci; Daniela Pende; Carlo Dufour; Maurizio Aricò; Andrea Rossi
Journal:  Pediatr Blood Cancer       Date:  2011-11-21       Impact factor: 3.167

4.  Neuropathological changes in Chédiak-Higashi disease.

Authors:  J H Sung; J P Meyers; E M Stadlan; D Cowen; A Wolf
Journal:  J Neuropathol Exp Neurol       Date:  1969-01       Impact factor: 3.685

5.  Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI.

Authors:  N Kondo; N Shimozawa; J Asano; A Imamura; T Orii
Journal:  Clin Genet       Date:  1994-12       Impact factor: 4.438

6.  Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis.

Authors:  J I Henter; I Nennesmo
Journal:  J Pediatr       Date:  1997-03       Impact factor: 4.406

7.  The Chédiak-Higashi syndrome: CT and MR findings.

Authors:  R Ballard; R D Tien; V Nohria; V Juel
Journal:  Pediatr Radiol       Date:  1994

8.  Cerebromeningeal haemophagocytic lymphohistiocytosis.

Authors:  J I Henter; G Elinder
Journal:  Lancet       Date:  1992-01-11       Impact factor: 79.321
  8 in total
  1 in total

1.  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
  1 in total

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