Literature DB >> 26427893

Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.

Koray Koç1, Pınar Koç2, Kamil Karaali3, Nihal Olgaç Dündar4, Utku Şenol3, Arzu Canan5.   

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.
© The Author(s) 2015.

Entities:  

Keywords:  Leukoencephalopathy; Van der Knaap disease; magnetic resonance imaging

Mesh：

Year:  2015        PMID： 26427893      PMCID： PMC4757224          DOI： 10.1177/1971400915609335

Source DB:  PubMed          Journal:  Neuroradiol J        ISSN： 1971-4009


  16 in total

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Journal:  J Child Neurol       Date:  1996-09       Impact factor: 1.987

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Journal:  AJNR Am J Neuroradiol       Date:  1990 Jul-Aug       Impact factor: 3.825

Review 4.  Alexander's disease: clues to diagnosis.

Authors:  C L Pridmore; M Baraitser; B Harding; S G Boyd; B Kendall; E M Brett
Journal:  J Child Neurol       Date:  1993-04       Impact factor: 1.987

Review 5.  Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.

Authors:  Salvatore Grosso; Alfonso Cerase; Nicola De Stefano; Luisa De Marco; Paolo Galluzzi; Daniela Galimberti; Guido Morgese; Paolo Balestri
Journal:  Brain Dev       Date:  2005-01       Impact factor: 1.961

6.  Megalencephalic leukoencephalopathy with subcortical cysts.

Authors:  K Hari Krishnan; C Leema Pauline; G Kumaresan; T K Vasantha Mallika
Journal:  Indian Pediatr       Date:  2005-01       Impact factor: 1.411

7.  Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Authors:  M Topcu; I Saatci; M A Topcuoglu; G Kose; B Kunak
Journal:  Brain Dev       Date:  1998-04       Impact factor: 1.961

8.  Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.

Authors:  M S van der Knaap; P G Barth; H Stroink; O van Nieuwenhuizen; W F Arts; F Hoogenraad; J Valk
Journal:  Ann Neurol       Date:  1995-03       Impact factor: 10.422

9.  Neuroimaging findings in late infantile GM1 gangliosidosis.

Authors:  C Y Chen; R A Zimmerman; C C Lee; F H Chen; Y S Yuh; H S Hsiao
Journal:  AJNR Am J Neuroradiol       Date:  1998-10       Impact factor: 3.825

10.  Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.

Authors:  Oscar Teijido; Albert Martínez; Michael Pusch; Antonio Zorzano; Eduardo Soriano; Jose Antonio Del Río; Manuel Palacín; Raúl Estévez
Journal:  Hum Mol Genet       Date:  2004-09-14       Impact factor: 6.150
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