Gattermeyer-Kell Lukas, Katschnig-Winter Petra, Kögl Mariella, Schwingenschuh Petra
Department of Neurology, Medical University of Graz, Graz, Austria.
Case Rep Neurol. 2025 Mar 24;17(1):41-49. doi: 10.1159/000545411. eCollection 2025 Jan-Dec.
Parkinson's disease (PD) is a common neurodegenerative disorder, and its diagnosis remains a clinical one. Hence, the emergence of new symptoms warrants consideration of a new diagnostic work-up even at later disease stages. Important differential diagnoses include atypical or symptomatic parkinsonism, like multiple system atrophy, normal pressure hydrocephalus, or rarely, superficial siderosis (SS).
A 66-year-old woman with longstanding PD presented to our clinic with a 4-year history of progressive ataxia and gait impairment. The emergence of a new symptom (ataxia) prompted us to conduct a new, broad diagnostic work-up. Clinical examination revealed both parkinsonian (hypomimia, dyskinesias, right dominant bradykinesia and rigidity, intermittent resting tremor) and cerebellar signs (scanning dysarthria, gaze-evoked nystagmus, severe ataxia of extremities and gait). No signs or symptoms of autonomic dysfunction were present. Magnetic resonance imaging of brain and spine showed extensive hemosiderin depositions and ventral intraspinal fluid collection, establishing a diagnosis of SS. No apparent dural leak was detected in cerebrospinal fluid scintigraphy. The patient was treated with epidural blood patch.
The occurrence of new symptoms in PD, especially "red flags" or exclusion criteria, calls for a repeated diagnostic work-up to exclude potentially treatable causes of parkinsonism. While SS has been reported as a cause of symptomatic parkinsonism, we favor a diagnosis of idiopathic PD and comorbid SS in this case. This case report highlights the clinical importance of diagnostic criteria in differentiating PD from atypical parkinsonian disorders or symptomatic parkinsonism as well as signs and symptoms, pathophysiological aspects, and treatment of SS.
帕金森病（PD）是一种常见的神经退行性疾病，其诊断仍依赖临床判断。因此，即使在疾病后期出现新症状时，也需要重新考虑进行全面的诊断检查。重要的鉴别诊断包括非典型或症状性帕金森综合征，如多系统萎缩、正常压力脑积水，或罕见的浅表性铁沉积症（SS）。
一名患有长期帕金森病的66岁女性因进行性共济失调和步态障碍4年就诊于我们的诊所。新症状（共济失调）的出现促使我们进行了一项新的、全面的诊断检查。临床检查发现既有帕金森病症状（表情减少、运动障碍、右侧为主的运动迟缓及僵硬、间歇性静止性震颤），也有小脑体征（吟诗样言语、凝视诱发性眼球震颤、四肢及步态严重共济失调）。未出现自主神经功能障碍的体征或症状。脑和脊柱的磁共振成像显示广泛的含铁血黄素沉积和脊髓腹侧脑脊液聚集，确诊为浅表性铁沉积症。脑脊液闪烁造影未检测到明显的硬脑膜漏。患者接受了硬膜外血贴治疗。
帕金森病出现新症状，尤其是“警示信号”或排除标准时，需要再次进行诊断检查以排除帕金森综合征潜在的可治疗病因。虽然浅表性铁沉积症已被报道为症状性帕金森综合征的病因之一，但在本病例中，我们倾向于诊断为特发性帕金森病合并浅表性铁沉积症。本病例报告强调了诊断标准在鉴别帕金森病与非典型帕金森综合征或症状性帕金森综合征以及浅表性铁沉积症的体征和症状、病理生理方面及治疗中的临床重要性。
