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Journal of Child Neurology
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Magnetic Resonance Spectroscopy and Magnetic Resonance Imaging Findings in Krabbe's Disease

Maria K. Zarifi, MD

Department of Radiology, Children's Hospital Harvard Medical School Boston, Massachusetts

A. Aria Tzika, PhD

Department of Radiology, Children's Hospital Harvard Medical School Boston, Massachusetts

Loukas G. Astrakas, MS

Department of Radiology, Children's Hospital Harvard Medical School Boston, Massachusetts

Tina Young Poussaint, MD

Department of Radiology, Children's Hospital Harvard Medical School Boston, Massachusetts

Douglas C. Anthony, MD, PhD

Department of Pathology, Children's Hospital Harvard Medical School Boston, Massachusetts

Basil T. Darras, MD

Department of Neurology Children's Hospital Harvard Medical School Boston, Massachusetts

Two twins with late infantile globoid cell leukodystrophy or Krabbe's disease were studied with conventional magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy. Brain MRI demonstrated brain atrophy with extensive bilateral symmetric abnormal T2 signal in the posterior periventricular white matter, parietal lobes, corona radiata, centrum semiovale, and splenium of the corpus callosum. Magnetic resonance imaging-guided proton magnetic resonance spectroscopy revealed prominent peaks from choline-containing compounds, total creatine, and inositols. The N-acetylaspartate peak was markedly reduced, and the choline-to- N-acetylaspartate ratio was abnormally high; in one of the twins, lactic acid was also detected. The constellation of magnetic resonance spectroscopy findings is indicative of extensive demyelination, gliosis, and loss of axons in the involved white matter; the latter two events occur in the later stages of globoid cell leukodystrophy. In conjunction with brain MRI, these magnetic resonance spectroscopy findings may alert clinicians to the possibility of leukodystrophy in children with progressive encephalopathy. (J Child Neurol 2001;16:522-526).

Journal of Child Neurology, Vol. 16, No. 7, 522-526 (2001)
DOI: 10.1177/088307380101600713
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