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Ataxia with vitamin E deficiency — SCE Neurology MCQ

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HardMovement DisordersAtaxia with vitamin E deficiencySCE Neurology

A 22-year-old woman presented with progressive gait ataxia and areflexia with fat malabsorption history. On examination, there was impaired vibration sense and dysarthria. Initial investigations showed: serum vitamin E was low and genetic Friedreich testing was negative. What is the most appropriate investigation?

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Correct answer: D — Clinical movement-disorder assessment with targeted DaTSCAN when uncertain

Clinical movement-disorder assessment with targeted DaTSCAN when uncertain is the best answer because the vignette describes Ataxia with vitamin E deficiency: sensory ataxia with malabsorption and low vitamin E is treatable vitamin E deficiency. Video-EEG telemetry is plausible in a neighbouring presentation, but the chronology, examination or investigation pattern does not match the key discriminator here. DaTSCAN and Lumbar puncture with CSF microscopy, culture and PCR are less appropriate because they would require different localisation, timing or test findings; CT angiography of the head and neck would fit a different syndrome. Clinical pearl: Friedreich ataxia usually begins earlier and has GAA expansion.

Reference: NICE NG71; Movement Disorder Society consensus criteria