ALTERAZIONI DELLA SOSTANZA BIANCA SOTTOCORTICALE E DEI NUCLEI DELLA BASE NELLE ACIDURIE ORGANICHE. REVISIONE DI 11 CASI

Translated title of the contribution: Subcortical white matter and basal ganglia changes in organic aciduria. Review of 11 case reports

L. D'Incerti, G. Uziel, E. Ciceri, L. Chiapparini, A. Romeo, M. Savoiardo

Research output: Contribution to journalArticle

Abstract

Eleven cases of biochemically assessed organic acidurias studied with one or more MR examinations were reviewed. The age of the patients ranged between 6 months and 17 years. The biochemical diagnosis was: Glutaric aciduria type II: 2 cases (brothers); age: 2-4 years. Glutaric aciduria type I: 1 case; age: 3 years. 2-Hydroxyglutaric aciduria: 3 cases; age: 11-17 years. Methylmalonic aciduria; 3 cases, one of them without proved enzymatic deficency; age: 6 months-4 years. 3-methyl-glutaconic aciduria: 1 case; age: 6 years. 4-Hydroxybutyric aciduria: 1 case; age: 7 years. MR features included white matter abnormalities prevalent in the subcortical areas in 10 cases; basal ganglia abnormalities were observed in 6 cases. Cerebellar atrophy and pontine tegmentum abnormalities were also observed. The combination of subcortical and basal ganglia abnormalities should raise the suspicion of organic aciduria although a similar pattern can be observed also in Kearn-Sayre syndrome; prevalent subcortical involvemeni of white matter is also seen in Canavan disease. Differently from the more common leukodystrophies, in these diseases a spongy state is present and the white matter abnormalities are more evident in the subcortical areas of more recent myelination.

Translated title of the contributionSubcortical white matter and basal ganglia changes in organic aciduria. Review of 11 case reports
Original languageItalian
Pages (from-to)264-265
Number of pages2
JournalRivista di Neuroradiologia
Volume7
Issue number2
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Fingerprint Dive into the research topics of 'Subcortical white matter and basal ganglia changes in organic aciduria. Review of 11 case reports'. Together they form a unique fingerprint.

  • Cite this