Literature DB >> 2038425

Magnetic resonance imaging in infantile encephalopathy with cerebral calcification and leukodystrophy.

E Boltshauser1, M Steinlin, C Boesch, E Martin, G Schubiger.   

Abstract

Three children, one pair of siblings and a sporadic case, with "infantile (familial) encephalopathy with cerebral calcification and leukodystrophy" are reported. Neuroimaging studies demonstrated extensive bilateral calcifications particularly in paraventricular location and within the cerebral white matter. MRI, performed in two infants, confirmed marked white matter involvement with diffuse delay of myelination. This condition can be added to the growing list of leukodystrophies.

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Year:  1991        PMID: 2038425     DOI: 10.1055/s-2008-1071412

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  3 in total

1.  Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors:  Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

2.  Fetal encephalopathy with cerebral calcifications: a case report.

Authors:  G Sabatino; S Domizio; A Verrotti; L A Ramenghi; P Pelliccia; G Morgese
Journal:  Childs Nerv Syst       Date:  1994-04       Impact factor: 1.475

Review 3.  The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Authors:  J L Tolmie; P Shillito; R Hughes-Benzie; J B Stephenson
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

  3 in total

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