Literature DB >> 22150413

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

John H Livingston1, Claudio Graziano, Karen Pysden, Yanick J Crow, Santosh R Mordekar, Isabella Moroni, Graziella Uziel.   

Abstract

We report the cases of three children, one male and two females, with a diagnosis of early infantile Krabbe disease demonstrating intracranial calcification on computed tomography (CT). The pattern of calcification was similar in all individuals and involved the internal capsule and cerebral white matter. The presence of calcification caused some diagnostic confusion in what was otherwise a typical clinical and radiological presentation. This finding is not new and has previously been described in publications from the 1980s and 1990s reporting the CT and magnetic resonance imaging appearances of Krabbe disease. With increasing use of magnetic resonance as the first imaging modality for investigation of neurological disorders, characteristic CT appearances may be forgotten. This report serves as a reminder that Krabbe disease should be included in the differential diagnosis of disorders causing intracranial calcification. © The Authors. Developmental Medicine & Child Neurology
© 2011 Mac Keith Press.

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Year:  2011        PMID: 22150413     DOI: 10.1111/j.1469-8749.2011.04167.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  4 in total

1.  Spontaneous Third Ventriculostomy in Krabbe Disease.

Authors:  Giulio Zuccoli; Aram Kim; Michele Poe; Maria L Escolar
Journal:  Pediatr Neurol       Date:  2019-12-02       Impact factor: 3.372

Review 2.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

3.  Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Authors:  Davide Tonduti; Celeste Panteghini; Anna Pichiecchio; Alice Decio; Miryam Carecchio; Chiara Reale; Isabella Moroni; Nardo Nardocci; Jaume Campistol; Angela Garcia-Cazorla; Belen Perez Duenas; Luisa Chiapparini; Barbara Garavaglia; Simona Orcesi
Journal:  Orphanet J Rare Dis       Date:  2018-08-16       Impact factor: 4.123

Review 4.  Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Authors:  David S Lynch; Charles Wade; Anderson Rodrigues Brandão de Paiva; Nevin John; Justin A Kinsella; Áine Merwick; Rebekah M Ahmed; Jason D Warren; Catherine J Mummery; Jonathan M Schott; Nick C Fox; Henry Houlden; Matthew E Adams; Indran Davagnanam; Elaine Murphy; Jeremy Chataway
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-11-22       Impact factor: 10.154

  4 in total

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