Literature DB >> 15602091

Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

Christoph Härtel1, Sandra Bachmann, Carsten Bönnemann, Peter Meinecke, Jürgen Sperner.   

Abstract

We report the unusual occurrence of progressive megalencephaly and dilated periventricular cystic Virchow-Robin spaces on magnetic resonance imaging in two siblings of a Turkish family. Both affected children in addition presented with psychomotor retardation. Since the index patients were of different gender and their parents were consanguineous, this constellation of findings is suggestive of an autosomal recessive trait.

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Year:  2005        PMID: 15602091     DOI: 10.1097/00019605-200501000-00007

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  5 in total

Review 1.  Perivascular space and neurological disorders.

Authors:  Guan Wang
Journal:  Neurosci Bull       Date:  2009-02       Impact factor: 5.203

Review 2.  Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature.

Authors:  Samuel Groeschel; Wui Khean Chong; Robert Surtees; Folker Hanefeld
Journal:  Neuroradiology       Date:  2006-08-05       Impact factor: 2.804

Review 3.  Perivascular Spaces, Glymphatic System and MR.

Authors:  Linya Yu; Xiaofei Hu; Haitao Li; Yilei Zhao
Journal:  Front Neurol       Date:  2022-05-03       Impact factor: 4.086

Review 4.  From microcephaly to megalencephaly: determinants of brain size.

Authors:  Filomena Pirozzi; Branden Nelson; Ghayda Mirzaa
Journal:  Dialogues Clin Neurosci       Date:  2018-12       Impact factor: 5.986

5.  A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.

Authors:  Tobias Schwerd; Andrea V Khaled; Manfred Schürmann; Hannah Chen; Norman Händel; André Reis; Gabriele Gillessen-Kaesbach; Holm H Uhlig; Rami Abou Jamra
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

  5 in total

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