Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series

Gómez‐Mayordomo, Víctor; Kojović, Maja; López‐Valdés, Eva; Alonso-Frech, Fernando; Horga, A; Fernández-Rodríguez, Rebeca; Pareés, Isabel

doi:10.1007/s00415-022-11376-5

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…On the other hand, reports of misdiagnosis of other neurological disorders as FMD include the following: prionic disorders (Gómez-Mayordomo et al, 2023; Jiang et al, 2019), dystonia (Erro et al, 2014; Yilmaz et al, 2011), Kleine-Levin syndrome (Masi et al, 2000), acute disseminated encephalomyelitis (Abay et al, 2005), paresis/paralysis (Fishbain & Goldberg, 1991), Guillain-Barrè syndrome (Edelsohn, 1982; Wherry et al, 1991), progressive supranuclear palsy (van Meerkerk-Aanen et al, 2017), spinal cord arteriovenous malformation (Spratt & Thomas, 2008).…”

Section: Functional Neurological Symptom Disorder Mimicsmentioning

confidence: 99%

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report

Baglioni,

Esposito,

Bernardi

et al. 2024

Clin Child Psychol Psychiatry

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Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as “functional” solely because other conditions can be excluded.

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Section: Functional Neurological Symptom Disorder Mimicsmentioning

confidence: 99%

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report

Baglioni,

Esposito,

Bernardi

et al. 2024

Clin Child Psychol Psychiatry

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show abstract

“…Some studied regional or national geographical distribution or temporal occurrence, but their cases occurred during periods of 9 to 15 years ( 14 – 18 ). Few case series focused on cases with similar clinical presentation without patients' geographic information ( 19 , 20 ), or on cases over 5 years in the same region ( 21 ).…”

Section: Introductionmentioning

confidence: 99%

Case report: Two clusters of Creutzfeldt–Jakob disease cases within 1 year in West Michigan

et al. 2023

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BackgroundCreutzfeldt–Jakob disease (CJD) is a rare, rapidly progressive, and uniformly fatal neurodegenerative disease. The reported incidence of CJD is 1 to 2 per million people worldwide annually, with fewer than 1,000 cases in the United States per year. In this study, we report a unique case series on temporo-spatial clusters of CJD cases in West Michigan.MethodsA total of five CJD cases consisting of two temporal clusters were seen from July 2021 to June 2022 at Corewell Health West hospitals. All patients had brain MRI, EEG, and CSF tests. Four patients underwent autopsies.ResultsAll patients' MRIs showed characteristic CJD patterns. Four patients had positive CJD panels in CSF. One patient had typical CJD EEG findings. Four patients were confirmed as sporadic CJD by autopsy. All patients died within 3 months after CJD was suspected.DiscussionAll patients lived within a 90-mile radius of Grand Rapids, MI, and two lived in the same county. West Michigan has a population of 1.6 million people, and the four counties where five patients lived have a combined population of 395,104, indicating CJD's new case rate of 3.1 and 12.5 per million people, respectively. Corewell Health is one of the three major healthcare systems in West Michigan. The actual incidence of CJD in West Michigan is likely even higher. This dense temporal and spatial cluster of CJD cases poses a serious public health challenge and warrants urgent investigation.

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2023

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Functional neurological symptoms as initial presentation of Creutzfeldt-Jakob disease: case series

Cited by 4 publications

References 11 publications

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report

Case report: Two clusters of Creutzfeldt–Jakob disease cases within 1 year in West Michigan

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