Rare, Fatal Brain Disease Cases spark Renewed Focus on Early Detection
A new case series published in Practical Neurology details the diagnostic challenges and clinical presentation of Creutzfeldt-Jakob Disease (CJD) observed at a district general hospital, alongside a extensive review of existing literature. The findings underscore the critical need for heightened awareness of this rapidly progressive and invariably fatal neurodegenerative disorder among healthcare professionals.
CJD,a prion disease,affects approximately one to two people per million annually worldwide. While rare, misdiagnosis is common due to its varied initial symptoms, often mimicking more prevalent neurological conditions like Alzheimer’s disease or stroke. This delay in accurate diagnosis can hinder appropriate patient care and potentially delay family closure. The recent case series, encompassing five patients presenting between 2016 and 2022 at the Royal Preston Hospital, highlights the difficulties in distinguishing CJD from other neurological illnesses in a typical hospital setting, even with access to MRI and cerebrospinal fluid analysis. The study aims to provide practical guidance for clinicians encountering suspected cases, emphasizing the importance of considering CJD in patients with rapidly progressive dementia, myoclonus, or other atypical neurological features.
The Royal Preston Hospital case series revealed a median age of 72 years at symptom onset (range 62-82) and a median survival time of 6 months following diagnosis. Initial presentations were diverse, including cognitive decline, behavioral changes, and cerebellar ataxia. Diagnostic workup included MRI brain scans, which showed characteristic changes in four out of five cases, and cerebrospinal fluid analysis for 14-3-3 protein, a biomarker suggestive of CJD, which was positive in three cases. The authors, Dr. A.J. Thompson and colleagues, note that the definitive diagnosis of CJD often requires brain biopsy, a procedure not always feasible or desirable given the disease’s rapid progression.The literature review accompanying the case series details the different subtypes of CJD – sporadic (sCJD, the most common form, accounting for approximately 85% of cases), genetic (gCJD), acquired (iCJD), and variant CJD (vCJD). vCJD is linked to the consumption of beef contaminated with bovine spongiform encephalopathy (BSE), commonly known as “mad cow disease,” and peaked in the UK during the late 1990s and early 2000s. sCJD, the focus of the Royal Preston Hospital cases, arises spontaneously with no known cause.Currently, there is no cure for CJD.Management focuses on supportive care to alleviate symptoms and improve quality of life. The authors emphasize the importance of multidisciplinary involvement, including neurologists, palliative care specialists, and neuropsychologists. Further research is crucial to understand the underlying mechanisms of prion diseases and develop effective therapies. the Royal Preston Hospital team advocates for continued medical education and the establishment of national surveillance systems to improve CJD diagnosis and management.
