Clinical characters and diagnosis of MRI for glutaric aciduria type
JIANG Min-bo
PENG Yun
WEN Yang
Abstract：Objective To analyze clinical characters and MRI findings of central neural system in glutaric aciduria type 1 (GA-I) and to improve the diagnosis .Methods It was analyzed that the clinical characters and MRI findings of 18 cases of GA-I in central neural system clinically proved .Results The 18 patients presented with epilepsy ,convulsion ,physical and mental retardation ,diarrhea ,GA and 3-OH-GA .MRI findings demonstrated atrophy of frontal and temporal lobes , abnormal signal of the lenticular nucleus and the caudate nucleus ,and wideness of extra-cranial space and lateral fissure . Conclusion The clinical characters and MRI findings of central neural system in glutaric aciduria type 1(GA-I) are rela-tively characteristic ,which are award to the diagnosis of GA-I .
Keywords：Glutaric aciduria type 1Magnetic resonance imagingLeucodystrophy
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 505-507,526 )