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Review Question - QID 106777

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QID 106777 (Type "106777" in App Search)
A 59-year-old female presents to your office with complaints of progressive numbness and tingling in her fingers and toes over the last several months. She also reports "feeling weak" in her arms and legs. The patient's past medical history is significant for hypertension and Crohn's disease, which has been well-controlled since undergoing an ileocolectomy 7 years ago. Physical examination is significant for the following findings: decreased sensation to light touch, temperature, and vibration in the bilateral lower extremities; ataxia; positive Romberg sign. Deficiency of which of the following is most likely responsible for this patient's symptoms?

Vitamin B1

2%

3/191

Vitamin B2

1%

2/191

Vitamin B3

1%

1/191

Vitamin B6

4%

7/191

Vitamin B12

90%

171/191

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This patient's presentation of progressive neurologic deterioration after ileal resection is most suggestive of subacute combined degeneration due to vitamin B12 deficiency.

Vitamin B12 functions as a cofactor for both homocysteine methyltransferase and methylmalonyl-CoA mutase. It is found only in animal products (meat and dairy); however B12 may be stored in the liver, with reserves often lasting many years. Deficiency may be caused by pernicious anemia, gastric bypass surgery, terminal ileum resection, malabsorption, bacterial overgrowth of the bowel, or a vegan diet. Deficiency of vitamin B12 presents as a macrocytic, megaloblastic anemia with hypersegmented neutrophils as well as peripheral and central neurologic symptoms, paresthesias and suabacute combined degeneration.

Langan et al. review the screening, diagnosis, and management of vitamin B12 deficiency. Initial workup in a patient with suspected vitamin B12 deficiency should include a complete blood count, serum B12 level, homocysteine level, and methlymalonic acid level. A grossly low B12 level is diagnostic of deficiency; however, in cases of a low-normal or borderline serum B12 level, increased homocysteine and methylmalonic acid levels can be used to confirm a deficiency.

Briani et al. discuss the clinical and radiographic manifestations of subacute combined degeneration. It is characterized by symmetrically distributed abnormal sensation to light touch, temperature, and vibration. Additionally, subacute combined degeneration manifests with distorted proprioception and spastic weakness of the limbs. MRI shows a symmetric increase in T2 signal intensity in the posterior and lateral columns in the thoracic and cervical spinal cord.

Illustration A is a spinal cord specimen showing myelin degeneration/lesions in the dorsal columns and lateral corticospinal tracts. Illustration B shows a hypersegmented neutrophil, a common finding in vitamin B12 deficiency.

Incorrect Answers:
Answer 1: Vitamin B1 deficiency, most commonly caused by alcoholism or malnutrition, presents with Wernicke-Korsakoff syndrome or beriberi.
Answer 2: Vitamin B2 deficiency presents with cheilosis, corneal vascularization, and a magenta colored tongue.
Answer 3: Vitamin B3 deficiency presents with glossitis and pellagra (diarrhea, dermatitis, dementia).
Answer 4: Vitamin B6 deficiency manifests with convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias, and cheilosis.

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