Objective: To report the case of a young man that developed cerebellar ataxia due to vitamin E deficiency secondary to intestinal malabsorption.

Background: Cerebellar ataxia is rarely caused by vitamin E (α-Tocopherol) deficiency due to its dietary abundance within the developed world. However, malabsorptive disorders can lead to vitamin E deficiency, as one of the few fat-soluble vitamins.

Method: Case report

Results: A 25-year-old man with past medical history of surgically corrected biliary atresia and gut malrotation with subsequent small bowel syndrome presented with tremor and lack of coordination to the movement disorder clinic. He was initially assessed by inpatient service for seizures and abnormal movement a year prior after undergoing emergent abdominal surgery. He had no significant family history of movement disorders. Neurological examination demonstrated titubation of the head, globally depressed reflexes, bilateral upper extremity intention tremor (left dominant), left-sided dysdiadochokinesia, finger dysmetria, bilaterally positive heel to shin test, difficulty with tandem walk, positive Romberg, and normal plantar responses. No sensory abnormalities were observed. These findings, although mild, negatively impacted patient’s activities of daily living, most notably writing and typing. Laboratory evaluation showed normal CBC, CMP, ANA, ESR, Gliadin Ab, Vit B12, MMA, Vit B1, TSH, Syphilis, Gad Ab, and SPEP. Vitamin E level was significantly decreased at 0.6 mg/L (reference range 5.9 – 19.4 mg/L). MRI of the brain did not reveal cerebellar volume loss or other intracranial abnormalities.

Conclusion: The patient’s cerebellar ataxia is likely due to vitamin E deficiency caused by gut malabsorption and was started on a therapeutic dose of 1200 IU/day of vitamin E. Genetic testing will be undertaken if the patient does not clinically improve, including TTPA gene for familial vitamin E deficiency.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-ataxia-due-to-vitamin-e-deficiency/