History

Patients with vitamin E deficiency may show signs and symptoms of hyporeflexia that progress to ataxia, including limitations in upward gaze.

Patients may present with profound muscle weakness and visual-field constriction.

Patients with severe, prolonged vitamin E deficiency may develop complete blindness, cardiac arrhythmia, and dementia.

Physical Examination

Neurologic findings follow a pattern of progression that can be divided into early and late stages, as follows^{[3, 23]}:

Early findings include hyporeflexia, decreased proprioception, decreased vibratory sense, distal muscle weakness, nyctalopia (night blindness), and normal cognition.
With continued deficiency, neurologic symptoms progress and patients can develop truncal and limb ataxia, as well as diffuse muscle weakness.^[24] Further eye problems may develop, including limited upward-gaze nystagmus and dissociated nystagmus.
Late manifestations include areflexia, loss of proprioception and vibratory sense, dysphagia and dysarthria, cardiac arrhythmias, ophthalmoplegia, and possible blindness. Cognition may be affected in later stages, and dementia can occur.

By contrast, patients with abetalipoproteinemia tend to have a predominance of eye problems, including decline in visual fields and pigmented retinopathy. Children with cholestatic disorders and patients with isolated vitamin E deficiency almost never develop retinopathy. Patients with cholestatic liver disease have a high incidence of behavioral and personality disorders.

Results of certain tests, such as finger-to-nose and rapid, alternating movement tests, are notably affected in vitamin E deficiency. After treatment, patients' ability to perform such tests may remain somewhat impaired but should show some improvement.

Differential Diagnoses

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