1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-5-53-a 10.15844/pedneurbriefs-5-7-6 Metabolic and Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Magnetic Resonance Spectroscopy in Canavan’s Disease http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 1991 01 07 2016 5 7 53 53 Copyright: © 1991 The Author(s) 1991 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan’s disease: a case report

The neuroradiological evaluation of Canavan’s disease in a 38 month-old girl is reported from the Alfred I. duPont Institute, Wilmington, DE and Children’s Hospital, Philadelphia, PA.

 Magnetic Resonance Spectroscopy Canavan’s Disease N-Acetylaspartic Acid

The neuroradiological evaluation of Canavan’s disease in a 38 month-old girl is reported from the Alfred I. duPont Institute, Wilmington, DE and Children’s Hospital, Philadelphia, PA. A female child of Ashkenazic Jewish heritage presented at age 5 months with psychomotor retardation and macrocephaly. At age 7 months cerebral brain biopsy confirmed a suspected diagnosis of Canavan’s disease. Over the last 30 months she developed severe spastic quadriparesis, optic atrophy and dysphagia which was treated by gastrostomy at age 27 months. CT showed diffuse symmetrical low attenuation values of the subcortical and deep cerebral white matter. MRI demonstrated symmetrical diffuse low signal density on T1-weighted images and high signal intensity on T2-weighted images. Magnetic resonance spectroscopy showed elevated levels of N-acetylaspartic acid in the occipital lobe. The in vivo measurement of N-acetylaspartic acid in the brain by magnetic resonance spectroscopy offered an additional non-invasive diagnostic test for Canavan’s disease. [1]

COMMENT. Canavan’s disease or spongy degeneration of the brain in infancy is a rare autosomal recessive leukodystrophy most prevalent among Ashkenazi Jews and Saudi Arabians. Matalon and co-workers have demonstrated an excessive amount of acetylaspartic acid in urine, blood, CSF and a deficiency of aspartoacylase in cultured skin fibroblasts and brain tissue in children with Canavan’s disease [2]. The diagnosis may now be confirmed by magnetic resonance imaging followed by localized 1H magnetic resonance spectroscopy.

 Marks HG Caro PA Wang ZY Detre JA Bogdan AR Gusnard DA Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan’s disease: a case report Ann Neurol 1991 Jul 30 1 106 110 10.1002/ana.410300120 1929222 Matalon R Michals K Sebesta D Deanching M Gashkoff P Casanova J Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease Am J Med Genet 1988 Feb 29 2 463 471 3354621