Journal of Inherited Metabolic Disease

, Volume 31, Supplement 3, pp 477–481 | Cite as

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

Short Report

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

Notes

Acknowledgement

This work was supported by the UCLA Intercampus NIH/NIGMS Medical Genetics Training Program Grant GM08243 (N.V.), and a Winnick Family Scholar’s Award (W.R.W.).

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Copyright information

© SSIEM 2008

Authors and Affiliations

  • N. Vatanavicharn
    • 1
  • B. D. Pressman
    • 2
  • W. R. Wilcox
    • 1
    • 3
  1. 1.Medical Genetics InstituteCedars-Sinai Medical CenterLos AngelesUSA
  2. 2.Department of Imaging, Section of Neuroradiology & Head and Neck Radiology, S. Mark Taper Foundation Imaging CenterCedars-Sinai Medical CenterLos AngelesUSA
  3. 3.Department of PediatricsUCLA School of MedicineLos AngelesUSA

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