title: CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients.
abstract: The results of CT and/or MRI of the brain in 107 patients with different types of organic acidemia are presented. The CSF spaces were wide in more than two-thirds of the patients, in 46 slightly-to-moderately and in 26 markedly-to-severely dilated. Marked widening of the operculae was found in all 5 patients with glutaric acidemia type 1, but open opercula was also found in other organic acidemias. White matter changes were found in about half the patients, in 28 mildly-to-moderately pronounced, in another 28 marked or severe. Basal ganglia or central pathway pathology was seen in a total of 34 patients, i.e. 32%. These changes in 25 patients involved the caudate and/or lentiform nuclei: in 14 cases the T2 signal was increased and volume loss was present, in 9 cases increased T2 signal with preserved volume was found (in one of these the changes were transient). In 2 patients, both with ethylmalonic aciduria (cause unknown), only small high T2 spots were seen in the caudate heads and the putamina. In 4 patients, all suffering from methylmalonic acidemia, only the globus pallidus was affected. In 3 patients, all with beta-ketothiolase deficiency, high T2 intensity changes were seen only in the postero-lateral putamina. The remaining 8 patients represent a variety of different locations of lesions. The CT or MRI findings in many patients with organic acidemias should alert the radiologist that a neurometabolic disorder may be present; in some cases the location and appearance of the lesions may even suggest the correct diagnosis.
authors.affiliation: Department of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: J
authors.initials: J
authors.lastname: Brismar
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
mesh_terms: D000138:Acidosis / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000473:pathology / Q000652:urine; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000473:pathology / Q000652:urine; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000473:pathology* / Q000652:urine; D014057:Tomography, X-Ray Computed; D014815:Vitamins / Q000378:metabolism
chemical_list: D005227:Fatty Acids; D014815:Vitamins