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ILAE 2017 – Focal Impaired Awareness Seizure — SCE Neurology MCQ

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HardEpilepsy & Seizure DisordersILAE 2017 – Focal Impaired Awareness SeizureSCE Neurology

A 66-year-old has recurrent encephalopathic episodes, bladder dysfunction, cognitive decline and parkinsonism. MRI repeatedly shows a high-signal ribbon at the corticomedullary junction on diffusion imaging. Which paired diagnostic approach most specifically supports the leading diagnosis?

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Correct answer: A — Skin biopsy for p62-positive inclusions plus NOTCH2NLC repeat testing

Explanation lettering: E = shown as B · B = shown as D · D = shown as E

A is correct: the corticomedullary diffusion ribbon plus episodic and progressive neurological dysfunction is characteristic of neuronal intranuclear inclusion disease; skin can show p62-positive intranuclear inclusions, and a NOTCH2NLC GGC repeat assay may establish the molecular diagnosis. B fits adult polyglucosan body disease. C targets mitochondrial disease. D targets hereditary transthyretin amyloidosis. E targets Alexander disease and would require an incompatible brain biopsy.

Reference: Neuronal intranuclear inclusion disease: clinical and diagnostic review: https://pmc.ncbi.nlm.nih.gov/articles/PMC10117695/