Kortz Michael W, Kongs Brian M, Middleton Lauren E
Neurosurgery, College of Osteopathic Medicine, Kansas City University, Kansas City, USA.
Neurology, College of Osteopathic Medicine, Kansas City University, Kansas City, USA.
Cureus. 2021 Apr 3;13(4):e14277. doi: 10.7759/cureus.14277.
Spongiform encephalopathy (SE) is a rare prion disorder characterized by progressive cognitive dysfunction and mortality. Affected patients can observe a wide variety of neurological symptoms, such as myoclonus, dementia, cerebellar signs, and others. We present a case of laboratory-confirmed SE in an otherwise healthy 57-year-old medical professional who initially presented with nonspecific and unique "head in a fish-bowl" dissociation and cognitive decline. No social risk factors were ever identified other than his healthcare career, but subsequent neuroimaging, serology, and lumbar puncture confirmed a diagnosis of sporadic SE due to unknown etiology. He was then treated symptomatically and referred ultimately to palliative care. The patient passed while in hospice care with time from the initial diagnosis to mortality being only 42 days. Given his vague but uniquely rapid deterioration and subsequent mortality, we highlight an opportunity to discuss diagnosis, management, quality improvement, and ethical concerns associated with SE prognosis. We aim to help primary care physicians and neurologists better elucidate the risk factors, signs and symptoms, and pathophysiology of SE to make an early diagnosis. Symptoms can then be managed effectively and palliative services coordinated via a legal and compassionate shared decision-making approach. We recommend that once a diagnosis is made, a discussion with the patient and their family about advance directives and end-of-life care be coordinated as soon as reasonably possible. This should be carried out by a multidisciplinary team consisting of the patient's primary care physician and neurologist, as well as a social worker, palliative care physician, and counselor (spiritual or otherwise). It is our hope that through a better understanding of these factors in SE care, quality of life improvement protocols in similarly-debilitating neurocognitive diseases can be developed.
海绵状脑病（SE）是一种罕见的朊病毒病，其特征为进行性认知功能障碍和死亡。受影响的患者可出现多种神经症状，如肌阵挛、痴呆、小脑体征等。我们报告一例经实验室确诊的SE病例，患者为一名57岁的健康医疗专业人员，最初表现为非特异性且独特的“置身鱼缸中头部”解离感和认知能力下降。除其医疗职业外，未发现其他社会风险因素，但随后的神经影像学、血清学和腰椎穿刺检查确诊为病因不明的散发性SE。随后对其进行了对症治疗，最终转诊至姑息治疗。患者在临终关怀期间去世，从最初诊断到死亡仅42天。鉴于其病情模糊但恶化迅速且随后死亡，我们强调有机会讨论与SE预后相关的诊断、管理、质量改进和伦理问题。我们旨在帮助初级保健医生和神经科医生更好地阐明SE的风险因素、体征和症状以及病理生理学，以便早期诊断。然后可以有效管理症状，并通过合法且富有同情心的共同决策方法协调姑息治疗服务。我们建议一旦确诊，应尽快与患者及其家属就预先指示和临终护理进行讨论。这应由一个多学科团队进行，该团队包括患者的初级保健医生和神经科医生，以及一名社会工作者、姑息治疗医生和顾问（精神或其他方面）。我们希望通过更好地了解SE护理中的这些因素，能够制定出改善类似衰弱性神经认知疾病患者生活质量的方案。
