Journal of Dementia
Open Access

Creutzfeldt-Jakob disease; Nonconvulsive status epilepticus; Atypical presentation; Diagnostic challenges; Neurodegenerative disorder

Introduction

Creutzfeldt-Jakob disease is a rare and devastating neurodegenerative disorder characterized by rapidly progressive dementia, neurological symptoms, and eventually leading to death. While the classic presentation of CJD includes a triad of clinical features, such as rapidly progressive dementia, myoclonus, and periodic sharp wave complexes on electroencephalogram, atypical presentations can often pose diagnostic challenges. This article focuses on a unique manifestation of CJD - its presentation as nonconvulsive status epilepticus, shedding light on the importance of recognizing this unusual clinical phenotype [1].

Creutzfeldt - jakob disease

Creutzfeldt-Jakob disease belongs to a family of diseases known as transmissible spongiform encephalopathies (TSEs) characterized by the accumulation of an abnormally folded isoform of the prion protein in the brain. These prions cause a cascade of events leading to neuronal death, resulting in the clinical manifestations of CJD.

Nonconvulsive status epilepticus

Status epilepticus is a state of continuous or recurrent seizures lasting for more than 5 minutes or a single seizure lasting longer than 30 minutes. In typical convulsive SE, patients exhibit motor convulsions; however, nonconvulsive status epilepticus is a form of SE characterized by absence of overt convulsive activity. Instead, patients present with altered mental status, behavioral changes, or subtle focal neurological deficits. NCSE can occur in various conditions, including metabolic disturbances, drug toxicity, or underlying structural brain abnormalities [2].

Unusual presentation of CJD as NCSE

CJD typically manifests with rapidly progressive dementia, myoclonus, and characteristic EEG findings showing periodic sharp wave complexes. However, in rare instances, CJD may present primarily as NCSE without the classic triad of symptoms. The non-specific clinical features of NCSE, such as altered mental status, confusion, and focal neurological deficits, can mimic other more common conditions, leading to potential misdiagnosis [3].

Diagnostic challenges

The atypical presentation of CJD as NCSE can lead to a delay in diagnosis, as the clinical features may initially suggest other causes of NCSE, such as metabolic or toxic etiologies. EEG findings in CJDrelated NCSE may show a variety of patterns, including generalized or focal slowing, periodic lateralized epileptiform discharges (PLEDs), or non-specific abnormalities. These findings can further complicate the diagnosis, as they may resemble other epileptic or non-epileptic conditions [4].

Importance of early recognition

Timely recognition of CJD-related NCSE is crucial for appropriate management and prognostication. CJD is an incurable disease, and the focus of treatment is primarily supportive. However, prompt identification of NCSE as the underlying cause can guide therapy with antiepileptic drugs, such as benzodiazepines and antiepileptic agents, which may help control seizures and potentially improve outcomes. Additionally, accurate diagnosis allows for appropriate counseling of patients and their families regarding the progressive nature of the disease.

Discussion

The case of Creutzfeldt - Jakob disease (CJD) presenting as nonconvulsive status epilepticus highlights a diagnostic challenge that clinicians may encounter when evaluating patients with neurological symptoms. CJD is a rare, degenerative neurological disorder characterized by the accumulation of abnormal prion proteins in the brain, leading to progressive cognitive decline, neurological symptoms, and ultimately, death [5].

Status epilepticus is a state of prolonged seizure activity or a series of recurrent seizures without complete recovery of consciousness between seizures. Nonconvulsive status epilepticus (NCSE) refers to a subtype of status epilepticus where the seizure activity primarily manifests as altered mental status, behavioral changes, and absence of overt convulsive movements.

The case discussed likely involved a patient who initially presented with subtle cognitive and behavioral changes, which were attributed to the early stages of CJD. However, as the disease progressed, the patient’s symptoms evolved into a state of nonconvulsive status epilepticus. This atypical presentation of CJD as NCSE can complicate the diagnostic process, leading to delays in accurate identification and management of the condition [6].

There are several factors contributing to the diagnostic challenge in this case. First, CJD itself presents with a wide range of clinical manifestations, including cognitive decline, behavioral changes, movement disorders, and neurological symptoms, which can overlap with other neurological conditions. This variability in presentation makes it difficult to establish a definitive diagnosis solely based on clinical symptoms. Second, NCSE can be challenging to diagnose, especially when it presents without the typical convulsive features [7]. In these cases, the electroencephalogram (EEG) plays a crucial role in identifying and confirming the presence of ongoing seizure activity. However, EEG findings in NCSE can be subtle or nonspecific, necessitating prolonged or continuous EEG monitoring to capture and diagnose the condition accurately.

Third, the rarity of CJD and its atypical presentation as NCSE may not be widely recognized by clinicians, further contributing to diagnostic delays. Without a high index of suspicion, physicians may not consider CJD as a potential underlying cause, leading to the pursuit of other differential diagnoses.

To overcome these challenges, it is crucial to maintain a high level of clinical suspicion for CJD, particularly in patients with unexplained cognitive decline, behavioral changes, or neurological symptoms [8]. A comprehensive evaluation, including a detailed clinical history, neurological examination, neuroimaging studies (such as magnetic resonance imaging), cerebrospinal fluid analysis (looking for elevated protein 14-3-3 and tau), and EEG monitoring, should be pursued in suspected cases. Additionally, advancements in diagnostic techniques, such as real-time quaking-induced conversion (RT-QuIC) assay for prion protein detection, have shown promise in improving the early diagnosis of CJD. These novel diagnostic tools may aid in overcoming the challenges associated with identifying CJD, including its atypical presentations [9, 10].

Conclusion

Creutzfeldt-Jakob disease presenting as nonconvulsive status epilepticus is a rare and challenging clinical phenotype. The absence of classic symptoms, coupled with the non-specific EEG findings, can hinder prompt diagnosis and initiation of appropriate management. Clinicians should maintain a high index of suspicion for CJD when encountering patients with unexplained altered mental status and focal neurological deficits, even in the absence of overt convulsive activity. Increased awareness and early recognition of this atypical presentation are crucial for providing optimal care and support for individuals affected by this devastating disease. Further research is needed to elucidate the underlying mechanisms and develop more effective diagnostic tools and therapeutic interventions for this unique manifestation of CJD.

Conflict of Interest

None

Acknowledgement

None

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