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Sporadic Creutzfeldt–Jakob disease presenting as epilepsia partialis continua and non‐ictal nystagmus
Author(s) -
Cunha Inês Antunes,
Gomes Inês,
Gens Helena,
Guimarães Susana,
Martins Ana Inês,
Bento Conceição
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14847
Subject(s) - epilepsia partialis continua , medicine , ictal , nystagmus , status epilepticus , electroencephalography , pathology , myoclonic jerk , epilepsy , hyperintensity , magnetic resonance imaging , audiology , radiology , psychiatry
Background and purpose Creutzfeldt–Jakob disease (CJD) is a rare form of rapidly progressive neurodegenerative disorder. Seizures are uncommon in the early stage of CJD, increasing diagnostic difficulty. Methods An autopsy‐proven case of CJD presenting initially as an epilepsia partialis continua is reported, in which the initial workup was unremarkable. Retrospectively, the presence of nystagmus, which proved to be non‐epileptic, pointed to a cerebellar lesion before a diagnosis of clinically probable CJD was made. Results A 70‐year‐old man presented with a 3‐week history of intermittent rhythmic jerking tremors in his left limbs, interfering with his gait. Examination showed left body clonic movements. Electroencephalography revealed an ictal right centroparietal pattern of focal status epilepticus. Video‐oculography revealed right‐beating nystagmus (mean slow phase velocity [SPV] 3.4º/s) in the dark and left‐beating nystagmus (SPV 2.6º/s) in the light, left‐beating nystagmus after head shaking (SPV 4º/s) and during mastoid vibration (SPV 11º/s) and mildly hypoactive horizontal head impulses. Search for occult malignancy, serologies, cerebrospinal fluid analyses, anti‐onconeural antigen, auto‐immune panel and brain magnetic resonance imaging were unrevealing. Rapid neurological decline was observed. Three weeks later, cerebrospinal fluid was positive for 14.3.3 protein, electroencephalography showed generalized periodic sharp wave complexes and brain magnetic resonance imaging revealed diffusion restriction and T2/fluid‐attenuated inversion recovery hyperintensities in the cerebellum, basal ganglia, thalamus and cortex. He died 1 month later. Neuropathological study confirmed the diagnosis of CJD. Conclusion This case highlights that CJD should be considered in the differential diagnosis of new onset epilepsia partialis continua and that neuro‐ophthalmological examination can be helpful in pointing to early asymmetric cerebellar involvement.