BMC Res Notes, 2017 · DOI: 10.1186/s13104-016-2344-4 · Published: January 18, 2017
This case report describes a patient with subacute combined degeneration of the spinal cord (SACD) due to cobalamin (vitamin B12) deficiency, even with normal cobalamin serum levels. The patient's condition rapidly improved with cobalamin supplementation. The patient initially presented with neurological symptoms, but standard blood tests for cobalamin were normal. Further testing revealed elevated methylmalonic acid (MMA) and homocysteine levels, indicating a cobalamin deficiency. The cause of the cobalamin deficiency was found to be autoimmune gastritis, which impaired the absorption of cobalamin. Treatment with cobalamin injections led to a rapid recovery.
In patients presenting with neurological symptoms suggestive of SACD, consider testing MMA and homocysteine levels even if cobalamin levels are within the normal range.
Initiate cobalamin supplementation promptly in patients diagnosed with cobalamin deficiency, tailoring the dosage and administration route to the underlying cause and severity of the deficiency.
Investigate the underlying cause of cobalamin deficiency, such as autoimmune gastritis, to guide long-term management and prevent recurrence.