Journal of Inherited Metabolic Disease

, Volume 31, Supplement 3, pp 477–481

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report

Authors

    • Medical Genetics InstituteCedars-Sinai Medical Center
  • B. D. Pressman
    • Department of Imaging, Section of Neuroradiology & Head and Neck Radiology, S. Mark Taper Foundation Imaging CenterCedars-Sinai Medical Center
  • W. R. Wilcox
    • Medical Genetics InstituteCedars-Sinai Medical Center
    • Department of PediatricsUCLA School of Medicine
Short Report

DOI: 10.1007/s10545-007-0791-8

Cite this article as:
Vatanavicharn, N., Pressman, B.D. & Wilcox, W.R. J Inherit Metab Dis (2008) 31: 477. doi:10.1007/s10545-007-0791-8

Summary

We report a 24-year-old patient with underlying classical homocystinuria who developed acute neurological deterioration apparently induced by malnutrition secondary to poor compliance with treatment and pancreatitis. Neurological examination revealed stupor, tremor of the upper extremities, spasticity, and Babinski responses of the bilateral lower extremities. The biochemical profile, including marked hypermethioninaemia, hyperhomocysteinaemia, and decreased cystine in plasma, is consistent with cystathionine β-synthase deficiency. Brain MRI showed reversible diffuse white-matter changes without evidence of thrombosis. The clinical features and neuroimaging including diffusion-weighted MRI suggest a demyelinating process similar to other inborn errors of the transsulfuration pathway such as methylenetetrahydrofolate reductase deficiency, disorders affecting methylcobalamin metabolism (cobalamin C, D, E, and G disorders), and methionine adenosyltransferase deficiency. She was left with residual spastic paraparesis despite normal follow-up MRI. Our observation suggests that reversible demyelination is another neurological manifestation of classical homocystinuria; however, the pathophysiology is unknown.

Abbreviations

CBS

cystathionine β-synthase

ERCP

endoscopic retrograde cholangiopancreatography

FLAIR

fluid-attenuated inversion recovery

TPN

total parenteral nutrition

Copyright information

© SSIEM 2008