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JIMD Rep. 2013;11:7-11. doi: 10.1007/8904_2013_215. Epub 2013 Feb 21.

Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.

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Division of Neurology, University of Toronto, Toronto, Canada, M5G 1X8, lance.rodan@sickkids.ca1.


A 10-year-old boy with transcobalamin II (TCII) deficiency on oral cyanocobalamin therapy presented with acute right hemiparesis and sensory axonal neuropathy in the context of an intercurrent viral illness. MRI demonstrated unilateral globus pallidus stroke with normal MRA. Echocardiogram was normal. Methylmalonic acid in serum was mildly elevated at 10.29 μmol/L (normal < 0.37 μmol/L), which was an 18-fold increase from his previous baseline. The patient was switched to IM cyanocobalamin and serum methylmalonic acid levels normalized over 6 months to 0.01 μmol/L. After 4 months of IM cyanocobalamin therapy, the neuropathy had resolved. Repeat MRI 4 months after the sentinel stroke demonstrated a chronic-appearing contralateral globus pallidus stroke of uncertain timing.


We are describing the first case of metabolic stroke and peripheral neuropathy in TCII deficiency. The neuropathy was responsive to parenteral hydroxycobalamin. Unilateral globus pallidus stroke in the appropriate clinical context should not exclude a metabolic etiology as it may herald contralateral involvement and may provide an opportunity for early recognition and treatment. IM hydroxycobalamin should be strongly considered in all patients with TCII, particularly when they reach later childhood. This case highlights the selective vulnerability of the globus pallidus to increased levels of methylmalonic acid of various causes, which is important for both diagnosis and ultimately understanding the mechanisms of neurological injury in this group of conditions. Metabolic stroke may occur with lower levels of methylmalonic acid than previously reported in the context of an intercurrent bioenergetic stressor.

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