A patient with vitamin E deficiency may present with a variety of clinical findings.
Clinical features:
(1) progressive gait ataxia
(2) night blindness
(3) loss of vibration and proprioception
(4) loss of muscle stretch reflexes
(5) loss of superficial and cremasteric reflexes
(6) extensor plantar response
(7) ophthalmoplegia
(8) pigmented retinopathy
(9) dysarthria
(10) head titubation
(11) ptosis
Laboratory features:
(1) decreased serum vitamin E (alpha-tocopherol) levels (for < 13 years of age < 0.3 mg/dL; for >= 13 years < 0.5 mg/dL)
(2) hemolytic anemia
where:
• Titubation is a staggering gait with shaking of the head and/or trunk.
• 1 mg/dL alpha-tocopherol = 23.22 µmol/L
