Objective: To report an unusual presentation of probable Creutzfeldt-Jakob disease (CJD) subtype VV1 in a 27-year-old man.

Background: CJD is a rare prion neurodegenerative disorder categorized into three distinct forms: sporadic (sCJD), genetic (gCJD), and acquired (iCJD). The primary manifestations include rapid neuropsychiatric changes and cognitive decline, typically progressing to mortality within one year of symptom onset. Among the subtypes of sCJD, VV1 is the least prevalent, with few cases documented in the literature.

Method: Case report.

Results: A 27-year-old man initially presented with hypersexual behavior in December 2023. Subsequently, he developed persistent vomiting, hiccups, and significant weight loss by March 2024. Neurological examination revealed bradyphrenia, scanning speech, cerebellar ataxia, and choreoathetoid hand movement. Additionally, he had bilateral optic nerve atrophy, sluggish pupillary reflexes, and bilateral sixth cranial nerve palsy. MRI showed symmetrical cortical atrophy, thinning of the corpus callosum, and basal ganglia iron deposition. On the FLAIR sequence, there was a slight and diffuse hypersignal in the subcortical white matter and periventricular parieto-occipital regions, bilaterally. Laboratory findings included negative whole exome sequencing (WES), autoimmune, and infectious panels in various serum and cerebrospinal fluid (CSF) analyses, except for the very high 14.3.3 protein, but negative RT-QuIC for prion disease. Despite intensive immunotherapy with plasmapheresis, methylprednisolone, and cyclophosphamide, the patient is alive and had no clear improvement, with a fast neurological decline requiring assistance for all activities of daily living and percutaneous endoscopic gastrostomy tube.

Conclusion: CJD is a rare and fatal neurodegenerative disease. The VV1 subtype is the least common, with an incidence of 1 in 100 million per year, manifesting as progressive dementia at a younger age and a longer clinical course (mean, 15 months). The characteristic MRI pattern consists of hyperintense signals in the basal ganglia, and RT-QuIC often yields negative results despite a sensitivity of approximately 90% and specificity of 100%. Considering these atypical features, early suspicion is crucial for the appropriate diagnosis and management. Diagnosis can only be confirmed by brain biopsy.

References: 1. Uttley L, Carroll C, Wong R, Hilton DA, Stevenson M. Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation. Lancet Infect Dis. 2020 Jan;20(1):e2-e10.
2. Puoti G, Bizzi A, Forloni G, Safar JG, Tagliavini F, Gambetti P. Sporadic human prion diseases: molecular insights and diagnosis. Lancet Neurol. 2012 Jul;11(7):618-28.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/progressive-ataxia-in-a-young-patient-atypical-presentation-of-a-probable-creutzfeldt-jakob-disease-variant-vv1/