Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation

Sakuma, Toshiro; Watanabe, Satoshi; Ouchi, Ayumi; Sakanishi, Yoshihito; Mizota, Atsushi; Ebihara, Nobuyuki

doi:10.1159/000503274

Cited by 5 publications

(5 citation statements)

References 13 publications

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“…A selective reduction in the amplitude of the β-wave in the electroretinograms was found in some CJD patients, and the magnitude was correlated with CJD progression. This abnormality may result from degenerative changes in the outer plexiform layer of the retina and Müller cells, implying damage to bipolar cells [ 6 , 11 ]. It is possible that the anti-recoverin antibody plays a role in the degeneration of bipolar cells as well as photoreceptors in CJD patient, which is similar to the pathogenesis of melanoma-associated retinopathy [ 8 ], and eventually result in clinical visual disturbance.…”

Section: Discussionmentioning

confidence: 99%

Anti-recoverin antibody positive Heidenhain variant CJD: a case report

Chung

Jao

2023

Prion

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The Heidenhain variant Creutzfeldt-Jakob disease (CJD) is characterized by isolated visual symptoms at disease onset, which may mimic numerous ophthalmological disorders. Anti-recoverin autoantibody can be found in patients with autoimmune-related retinopathies. The presence of this antibody with visual symptoms might be confusing in the early stages of the Heidenhain variant CJD. We describe the first case of an anti-recoverin antibody found in the Heidenhain variant CJD who presented with progressive blurred vision then memory deterioration proceeded later. This presentation reinforces the concept that the presence of the anti-recoverin antibody could not exclude the possibility of the Heidenhain variant of CJD in highly suspicious patients with initial isolated visual disturbance.

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Section: Discussionmentioning

confidence: 99%

Anti-recoverin antibody positive Heidenhain variant CJD: a case report

Chung

Jao

2023

Prion

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“…The pathognomonic MRI findings in the Heidenhain variant of sCJD are the DWI cortical ribboning appearances involving the occipital lobes; 14 temporal and parietal lobe involvement without basal ganglia signal change, as seen in our patient’s neuro-imaging, have also been described. 15 The differential diagnoses for these MRI abnormalities are relatively narrow, 16 which we investigated in our diagnostic work-up as per Table 1 . The typical EEG findings of periodic sharp waves develop later in disease, so may not be picked up in the Heidenhain variant as it tends to have a sharper decline; if found, the EEG abnormalities tend to be more posterior predominant.…”

Section: Discussionmentioning

confidence: 99%

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Sokhi¹,

Yakub²,

Sharma³

et al. 2021

IMCRJ

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Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare prion disease that causes rapidly progressive fatal neurodegeneration. The rarer Heidenhain variant of sCJD presents with visual symptoms and is rarely reported in the literature from sub-Saharan Africa. We report the case of a 57-year-old male with a three-week history of losing direction when driving home and visual hallucinations described as seeing rainbows. Magnetic resonance imaging (MRI) of the brain revealed unilateral parieto-occipital sulcal hyperintensities with restriction on diffusion-weighted imaging (DWI), and electroencephalography (EEG) showed right para-central slowing leading to an initial diagnosis of non-convulsive status epilepticus. He was treated with anti-epileptic medication but was re-admitted less than a month later with worsening spatial memory, aggression, ataxia, dysarthria, myoclonic jerks and a positive startle response, later developing generalised tonic-clonic seizures. Repeat MRI brain scan showed widespread posterior-predominant sulcal DWI restriction in a cortical ribboning pattern pathognomonic for sCJD. EEG showed diffuse slowing, and cerebrospinal fluid was analyzed for abnormal prion protein using real-time quaking-induced conversion but was inconclusive due to suboptimal sample collection. The patient fulfilled the diagnostic criteria for probable sCJD, Heidenhain variant; the family declined brain biopsy for definitive diagnosis. He was subsequently palliated at a local hospice where he died approximately three months after the onset of symptoms. Our case highlights the presence of a rare form of sCJD, and the diagnostic challenges faced in our resource-limited setting.

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“…Quantitative analysis of the oculomotor function in sCJD has rarely been reported and is frequently associated with prominent cognitive dysfunction [2]. Saccadic pursuit, spontaneous nystagmus and slow saccades are among the most common findings [4].…”

Section: Discussionmentioning

confidence: 99%

“…Seizures are uncommon in the early stage of CJD and most of these are non‐convulsive focal seizures or general tonic–clonic seizures [1]. Abnormal eye movements are reported features of CJD [2], but detailed analysis is rarely provided.…”

Section: Introductionmentioning

confidence: 99%

Sporadic Creutzfeldt–Jakob disease presenting as epilepsia partialis continua and non‐ictal nystagmus

Cunha

Gomes

Gens

et al. 2021

Euro J of Neurology

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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.

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Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation

Cited by 5 publications

References 13 publications

Anti-recoverin antibody positive Heidenhain variant CJD: a case report

Anti-recoverin antibody positive Heidenhain variant CJD: a case report

Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: First Reported Case from East Africa

Sporadic Creutzfeldt–Jakob disease presenting as epilepsia partialis continua and non‐ictal nystagmus

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