Literature DB >> 29022088

Enhancement of multiple cranial and spinal nerves in vanishing white matter: expanding the differential diagnosis.

Thomas Jose Eluvathingal Muttikkal1, Denia Ramirez Montealegre2, Julie Ann Matsumoto3.   

Abstract

Abnormal cranial or spinal nerve contrast enhancement on MRI in cases of suspected pediatric leukodystrophy is recognized as an important clue to the diagnosis of either metachromatic leukodystrophy or globoid cell leukodystrophy (Krabbe disease). We report a case of genetically confirmed childhood vanishing white matter with enhancement of multiple cranial and spinal nerves in addition to the more typical intracranial findings. This case expands the limited differential diagnosis of cranial nerve or spinal nerve enhancement in cases of suspected leukodystrophy and may aid in more efficient work-up and earlier diagnosis of vanishing white matter.

Entities:  

Keywords:  Brain; Child; Cranial nerves; Leukodystrophy; Magnetic resonance imaging; Spinal nerves; Vanishing white matter

Mesh:

Substances:

Year:  2017        PMID: 29022088     DOI: 10.1007/s00247-017-3997-4

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


  8 in total

Review 1.  Vanishing white matter disease.

Authors:  Marjo S van der Knaap; Jan C Pronk; Gert C Scheper
Journal:  Lancet Neurol       Date:  2006-05       Impact factor: 44.182

2.  Characteristics of early MRI in children and adolescents with vanishing white matter.

Authors:  Hannemieke D van der Lei; Marjan E Steenweg; Frederik Barkhof; Ton de Grauw; Marc d'Hooghe; Richard Morton; Siddharth Shah; Nicole Wolf; Marjo S van der Knaap
Journal:  Neuropediatrics       Date:  2012-03-19       Impact factor: 1.947

3.  Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Authors:  Raphael Schiffmann; Marjo S van der Knaap
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

4.  An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter disease.

Authors:  Rahul Raman Singh; John Livingston; Ming Lim; Ian R Berry; Ata Siddiqui
Journal:  Eur J Paediatr Neurol       Date:  2016-09-06       Impact factor: 3.140

5.  Astrocytes are central in the pathomechanisms of vanishing white matter.

Authors:  Stephanie Dooves; Marianna Bugiani; Nienke L Postma; Emiel Polder; Niels Land; Stephen T Horan; Anne-Lieke F van Deijk; Aleid van de Kreeke; Gerbren Jacobs; Caroline Vuong; Jan Klooster; Maarten Kamermans; Joke Wortel; Maarten Loos; Lisanne E Wisse; Gert C Scheper; Truus E M Abbink; Vivi M Heine; Marjo S van der Knaap
Journal:  J Clin Invest       Date:  2016-03-14       Impact factor: 14.808

6.  Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

Authors:  Deanna M Horst; Lynne Ruess; Jerome A Rusin; Dennis W Bartholomew
Journal:  Pediatr Neurol       Date:  2014-06-26       Impact factor: 3.372

7.  Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Authors:  Ryan J Taft; Adeline Vanderver; Richard J Leventer; Stephen A Damiani; Cas Simons; Sean M Grimmond; David Miller; Johanna Schmidt; Paul J Lockhart; Kate Pope; Kelin Ru; Joanna Crawford; Tena Rosser; Irenaeus F M de Coo; Monica Juneja; Ishwar C Verma; Prab Prabhakar; Susan Blaser; Julian Raiman; Petra J W Pouwels; Marianna R Bevova; Truus E M Abbink; Marjo S van der Knaap; Nicole I Wolf
Journal:  Am J Hum Genet       Date:  2013-05-02       Impact factor: 11.025

8.  Genetic and clinical heterogeneity in eIF2B-related disorder.

Authors:  Jelena Maletkovic; Raphael Schiffmann; J Rafael Gorospe; Erynn S Gordon; Michelle Mintz; Eric P Hoffman; Gulay Alper; David R Lynch; Bhim S Singhal; Cary Harding; Hernan Amartino; Candida M Brown; Alicia Chan; Deborah Renaud; Michael Geraghty; Lloyd Jensen; Nesrin Senbil; Nadja Kadom; Javad Nazarian; Thomas Hartka; Hiroki Morizono; Adeline Vanderver
Journal:  J Child Neurol       Date:  2008-02       Impact factor: 1.987

  8 in total
  2 in total

1.  Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Authors:  Prisca S Leferink; Nicole Breeuwsma; Marianna Bugiani; Marjo S van der Knaap; Vivi M Heine
Journal:  Glia       Date:  2017-12-29       Impact factor: 7.452

2.  A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.

Authors:  D Hettiaracchchi; N Neththikumara; B A P S Pathirana; A Padeniya; V H W Dissanayake
Journal:  Case Rep Pediatr       Date:  2018-07-05
  2 in total

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