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Epilepsy – Medication Change Seizure — SCE Neurology MCQ

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HardEpilepsy & Seizure DisordersEpilepsy – Medication Change SeizureSCE Neurology

A 55-year-old has progressive dysarthria, dysphagia, gait ataxia, sleep apnoea and orthostatic hypotension. MRI shows striking atrophy and T2 hyperintensity of the medulla and upper cervical cord, with relative pontine sparing. CSF inflammatory studies are negative. Which investigation is most likely to establish the diagnosis?

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Correct answer: A — A pathogenic heterozygous GFAP variant

Explanation lettering: C = shown as A · D = shown as C · A = shown as D

C is correct: adult Alexander disease can present with bulbar, ataxic and autonomic dysfunction, and its characteristic lower-brainstem or upper-cervical pattern should prompt confirmatory GFAP genetic testing. RFC1 disease requires the sensory-neuronopathy and bilateral vestibular-arreflexia spectrum. AQP4 disease is inflammatory and generally produces attacks rather than steadily progressive medullary atrophy. A synuclein biopsy might support multiple-system atrophy but would not explain this distinctive MRI distribution. The option wording names the same GFAP gene product, not the GFAP autoantibody used in astrocytopathy.

Reference: Diagnosing Alexander disease in adults: https://pn.bmj.com/content/25/6/507