Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

@article{Birnbaum2008MethylenetetrahydrofolateRD,
  title={Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult},
  author={Tobias Birnbaum and Henk J. Blom and Holger Prokisch and Miriam Hartig and Thomas Klopstock},
  journal={Journal of Neurology},
  year={2008},
  volume={255},
  pages={1845-1846}
}
JO N 3043 sis. He became bed-ridden within eight weeks. He had reported on mild gait difficulties of unknown etiology for three years. One of his seven siblings had presented with psychomotor retardation in early childhood. Cranial MRI revealed generalized cerebral atrophy and leukoencephalopathy (Fig. 1). Spinal MRI and CSF analysis were normal. Adrenoleukodystrophy was ruled out by normal amounts of very long chain fatty acids. Laboratory testing revealed marked hyperhomocysteinemia (186 μmol… CONTINUE READING
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