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Images in Neurology
March 2018

Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy

Author Affiliations
  • 1Department of Neurology, Peking University Third Hospital, Beijing, China
JAMA Neurol. 2018;75(3):374-375. doi:10.1001/jamaneurol.2017.4527

A 45-year-old man with no family history of psychiatric or neurological diseases presented with acute psychiatric symptoms. He had been in prison for 8 months before symptom onset. The first magnetic resonance image (MRI) was acquired 2 months after symptom onset and the results demonstrated focal hyperintensity in the right occipital white matter on fluid-attenuated inversion recovery (Figure, A). The patient initially received a diagnosis of catatonic schizophrenia. His psychiatric symptoms improved gradually after antipsychotic treatment, although spastic paresis of lower limbs remained. However, the patient became irritable again 18 months after symptom onset and the second MRI results indicated a mild expansion of the right occipital white matter lesion. His condition deteriorated rapidly and turned into a stupor state. The third MRI was obtained 21 months after symptom onset, and the results demonstrated confluent white matter lesions that were distributed asymmetrically in bilateral centrum semiovale and periventricular areas on fluid-attenuated inversion recovery and diffusion-weighted images (Figure, B and C). Spotlike and linear hypointensity in bilateral parietal lobes were found on T2-weighted MRI results. Because the arylsulfatase A (ARSA) enzyme activity in the patient’s leukocytes was half of the normal lower limit, he was clinically suspected of having metachromatic leukodystrophy and underwent a gene test.

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