Neuroimaging findings in patients with cerebral organic acid disorders Neuroimaging findings in patients with cerebral organic acid disorders. A. Transversal NMR image of a 7-year-old girl who had been diagnosed with propionic aciduria in infancy and had been successfully treated since then. While in good metabolic control, she suddenly became comatose. Massive infarction of the basal ganglia had occurred, and the child died a few days later. Spin echo technique. (Reproduced with permission from Drs R Haas and WL Nyhan, Department of Pediatrics, University of California, San Diego.) B. Two 2-weighted images of a 7-month-old boy with biotinidase deficiency. The image on the right shows absence of normal myeline signal, cerebral atrophy, and symmetrical hyperintense lesions of both thalami. The image on the left displays absence of normal myeline signal in the cerebellum as well as hyperintense signal in both pyramidal tracts. (Reproduced with permission from Dr T Bast, Department of Pediatric Neurology, University of Heidelberg, Germany.) C. Axial T1-weighted spin echo NMR image of a 3½-year-old boy with glutaryl-CoA dehydrogenase deficiency. He was diagnosed neonatally, never suffered an encephalopathic crisis, and developed no major neurological deficit. In addition to marked extension of Sylvian fissures (frontotemporal atrophy), the central white matter, especially around the occipital horns, appears attenuated. D. Axial T2-weighted spin echo image of a 14-month-old girl with glutaryl-CoA dehydrogenase deficiency 2 months after acute encephalopathic crisis. In addition to marked extension of sylvian fissures (frontotemporal atrophy), marked shrinkage and hyperintensity of the putamen and the caudate nucleus are obvious as well as diffuse attenuation of both, the central as well as peripheral white matter. (Reproduced with permission from Kolker S, Mayatepek E, Hoffmann GF. White matter disease in cerebral organic acid disorders: Clinical implications and suggested pathomechanisms. Neuropediatrics. 2002;33(5):225–231.)  E. T2-weighted axial and coronal MR images of a 66-year-old man with glutaryl-CoA dehydrogenase deficiency demonstrating confluent white matter changes, wide temporopolar and insular CSF spaces, and cortical atrophy, but normal signal of basal ganglia. The previously healthy man presented from the age of 50 with slowly progressive neurologic disease, including seizures, dementia, and speech problems. Aggressive behavior as well as acoustic and visual hallucinations led to the suggestion of psychiatric disease. (Reproduced with permission from Kulkens S, Harting I, Sauer S, et al. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 2005;64(12):2142–2144.) F. Axial T1-weighted spin echo image of a 2-month-old girl with D-2-hydroxyglutaric aciduria. The lateral ventricles are highly dilated, occipital more than frontal, the cerebral maturation is delayed. (Reproduced with permission from Kolker S, Mayatepek E, Hoffmann GF. White matter disease in cerebral organic acid disorders: Clinical implications and suggested pathomechanisms. Neuropediatrics 2002;33(5):225–231.) G. Axial T2-weighted spin echo image of an 8½-year-old boy with L-2-hydroxyglutaric aciduria. Subcortical white matter is severely deficient with much less involvement of the internal capsule and the periventricular white matter. Please note signal changes in the putamen. (Reproduced with permission from Kolker S, Mayatepek E, Hoffmann GF. White matter disease in cerebral organic acid disorders: Clinical implications and suggested pathomechanisms. Neuropediatrics 2002;33(5):225–231.) H. Axial T2-weighted spin echo image of an 8½-year-old boy with L-2-hydroxyglutaric aciduria. Note hyperintense lesions in both dentate nuclei. I. Axial fast spin echo image of an 6½-year-old girl suffering from aspartoacylase deficiency. Note the marked discrepancy between the severely affected subcortical white matter and the relatively spared central white matter, at least frontally. (Reproduced with permission from Kolker S, Mayatepek E, Hoffmann GF. White matter disease in cerebral organic acid disorders: Clinical implications and suggested pathomechanisms. Neuropediatrics. 2002;33(5):225–231.) Source: Organic Acidurias, Pediatric Endocrinology and Inborn Errors of Metabolism, 2e Citation: Sarafoglou K, Hoffmann GF, Roth KS. Pediatric Endocrinology and Inborn Errors of Metabolism, 2e; 2017 Available at: http://accesspediatrics.mhmedical.com/DownloadImage.aspx?image=/data/books/2042/saraped2_ch14_f014i.png&sec=154110751&BookID=2042&ChapterSecID=154110397&imagename= Accessed: December 22, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved