Pitfalls in the diagnostic evaluation of subacute combined degeneration

We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy. On clinical examination, deep tendon reflexes were preserved and muscle strength was 5/5 everywhere. Gait was ataxic wi...

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Bibliographic Details
Published in:BMJ case reports 2015-05, Vol.2015, p.bcr2014208622
Main Authors: Ulrich, A, Müller, D, Linnebank, M, Tarnutzer, A A
Format: Article
Language:English
Subjects:
Acids
Adult
Dietary Supplements - adverse effects
Embolisms
Europe (West)
Gastrointestinal surgery
Homocysteine
Homocysteine - metabolism
Humans
Laboratories
Male
Malnutrition
Metabolism
Metabolites
Methylmalonic Acid - metabolism
Proteins
Reminder of Important Clinical Lesson
Spinal cord
Subacute Combined Degeneration - drug therapy
Subacute Combined Degeneration - etiology
Subacute Combined Degeneration - physiopathology
Treatment Outcome
Vitamin B 12 - administration & dosage
Vitamin B 12 - adverse effects
Vitamin B 12 Deficiency - complications
Vitamin B 12 Deficiency - drug therapy
Vitamin B 12 Deficiency - physiopathology
Vitamin B Complex - administration & dosage
Vitamin deficiency
White
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Summary:We report a case of a 43-year-old man presenting with a 2-week history of painless ascending sensory disturbances, suspected to be suffering from acute inflammatory polyneuropathy. On clinical examination, deep tendon reflexes were preserved and muscle strength was 5/5 everywhere. Gait was ataxic with positive Romberg test. Lumbar puncture was normal and electroneurography demonstrated demyelination. With spinal cord involvement centred on the posterior tracts on MRI, differential diagnosis focused on cobalamin deficiency. Initial laboratory work up showed nearly normal holotranscobalamin (43 pmol/L, normal>50) suggesting no vitamin B12 deficiency. Surprisingly, further testing including methylmalonic acid (3732 nmol/L, normal
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-208622