Téma:  Case Studies

Neurological disorders in vitamin b12 deficiency - case report

Ivan Martinka1, Peter Kosoň1,2, Miriam Sosková1, Imrich Borský3, František Jurčaga1

Vitamin B12 plays an important role in organism as a cofactor of important enzymes of intermediary metabolism. Lack of vitamin B12 is caused by malabsorption in the gastrointestinal tract, insufficient nourishment by food or genetic deficiency of methylmalonyl-CoA mutase enzyme. Vitamin B12 deficiency usually presents with various hematological, neurological and psychiatric manifestations. Neurological manifestations include myelopathy, neuropathy and, rarely, optic nerve atrophy. Myelopathy in vitamin B12 deficiency presents as subacute combined degeneration of spinal cord (funicular myelosis), characterized by degeneration of the lateral and posterior columns. We report a 56-year-old man who presented with 9-month history of gradually progressing ataxia, parenthesis and muscle weakness. On examination, deep tendon reflexes were markedly increased, Babinski´s sign was positive bilateral, ataxia and positive Romberg´s sign were present. Vibration, joint position sense and touch sensitivity were diminished. Laboratory data revealed mild macrocytic anemia and vitamin B12 deficiency (59 ug/l). Magnetic resonance imaging of the cervical spinal cord demonstrated abnormal hyper intensive signal changes on T2-weighted imaging of the posterior columns. Electrophysiological studies showed a mild axonal-demyelinating sensory-motor polyneuropathy. The treatment with intramuscular vitamin B12 was initiated. Following the treatment patient´s neurological symptoms remitted markedly or disappeared completely. Untreated deficiency of vitamin B12 is a serious condition which can lead to bed-ridden stage. However in early diagnostics and treatment there is a very good chance to achieve a complete reversal of neurological dysfunction.

Ročník 2010  Témy časopisu Neurology 3 / 2010

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