Work

MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.

Year: 2002

Type: article

Abstract: A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.

Source: PubMed Central

Authors: Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J Cozzone

Institutions: Centre National de la Recherche Scientifique, Centre de Résonance Magnétique Biologique et Médicale

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2148839621

FWCI: 1.08

Cites: 19

Cited by: 30

Related to: 10