杉山 淳比古

Abstract Background Multiple system atrophy (MSA) is a progressive, incurable, life-threatening neurodegenerative disease uniquely characterized by the risk of sudden death, which makes diagnosis delivery challenging for neurologists. Empirical studies on breaking a diagnosis of MSA are scarce, with no guidelines currently established. This study aimed to investigate neurologists’ current practices and experiences in delivering the diagnosis of MSA. Methods We conducted a multicenter online survey and employed a mixed-methods (quantitative and qualitative) study design in which responses to open-ended questions were analyzed qualitatively using critical incident technique. Results Among the 194 neurologists surveyed, 166 opened the survey (response rate = 85.6%), of whom 144 respondents across various Japanese regions completed the survey. Accordingly, 92.3% and 82.8% of the participating neurologists perceived delivering the diagnosis of MSA and explaining the risk of sudden death as difficult, respectively. Factors independently associated with difficulties in diagnosis delivery included explaining the importance of the family decision making process in life-prolonging treatment, perceived difficulties in delivering information regarding the risk of sudden death, and perceived difficulties in differential diagnosis of MSA. Conclusions Our findings showed that the majority of neurologists perceived delivering the diagnosis of MSA and explaining the risk of sudden death as difficult, which could have been associated with the difficulty of breaking the diagnosis of MSA. Difficulty in conveying bad news in MSA are caused by various factors, such as empathic burden on neurologists caused by the progressive and incurable nature of MSA, the need to explain complex and important details, including the importance of the family decision-making process in life-prolonging treatment, difficulty of MSA diagnosis, and communication barriers posed by mental status and cognitive impairment in patients or their family members. Neurologists consider various factors in explaining the risk of sudden death (e.g., patient’s personality, mental state, and degree of acceptance and understanding) and adjust their manner of communication, such as limiting their communication on such matters or avoiding the use of the term “sudden death” in the early stages of the disease. Although neurologists endeavor to meet the basic standards of good practice, there is room for the multiple aspects for improvement.

We report the case of a woman in her 40s who presented with sensory disturbances in all 4 limbs and left facial palsy. MRI revealed asymmetric enlargement of the dorsal root ganglia, which was enhanced by gadolinium-a chest CT scan identified enlarged supraclavicular, mediastinal, and hilar lymph nodes. A biopsy of a hilar lymph node showed noncaseating epithelioid granulomas, confirming a sarcoidosis diagnosis. Prednisolone treatment led to symptomatic improvements. In sarcoidosis of the peripheral nervous system, there might be observable enlargement of the dorsal root ganglion alongside enhanced gadolinium contrast. Obtaining a biopsy from the dorsal root ganglion poses challenges, and radiologists should be mindful of this specific imaging characteristic.

Multiple system atrophy with predominant parkinsonism (MSA-P) can hardly be distinguished from Parkinson’s disease (PD) clinically in the early stages. This study investigated whether a standardized T1-weighted/T2-weighted ratio (sT1w/T2w ratio) can effectively detect degenerative changes in the middle cerebellar peduncle (MCP) associated with MSA-P and PD and evaluated its potential to distinguish between these two diseases. We included 35 patients with MSA-P, 32 patients with PD, and 17 controls. T1w and T2w scans were acquired using a 1.5-T MR system. The MCP sT1w/T2w ratio was analyzed via SPM12 using a region-of-interest approach in a normalized space. The diagnostic performance of the MCP sT1w/T2w ratio was compared between the MSA-P, PD, and controls. Patients with MSA-P had significantly lower MCP sT1w/T2w ratios than patients with PD and controls. Furthermore, MCP sT1w/T2w ratios were lower in patients with PD than in the controls. The MCP sT1w/T2w ratio showed excellent or good accuracy for differentiating MSA-P or PD from the control (area under the curve (AUC) = 0.919 and 0.814, respectively) and substantial power for differentiating MSA-P from PD (AUC = 0.724). Therefore, the MCP sT1w/T2w ratio is sensitive in detecting degenerative changes in the MCP associated with MSA-P and PD and is useful in distinguishing MSA-P from PD.

The most common genetic Creutzfeldt-Jakob disease (gCJD) in Japan is caused by a point mutation in which isoleucine replaces valine at codon 180 of the prion protein (PrP) gene (V180I gCJD). Evidence suggests that cerebral cortex swelling, which appears as abnormal hyperintensities on diffusion-weighted imaging (DWI), is a characteristic magnetic resonance imaging (MRI) finding of V180I gCJD. However, no study has directly compared the MRI findings between V180I gCJD and sporadic CJD (sCJD). The current study, therefore, aims to clarify the imaging features of V180I gCJD, which would lead to prompt genetic counselling and analysis of the PrP gene, particularly focusing on cerebral cortex swelling. We included 35 patients with sCJD (n = 23) or V180I gCJD (n = 12). Cerebral cortex swelling on T2-weighted imaging (T2WI) or fluid-attenuated inversion recovery (FLAIR) wherein abnormal cortical hyperintensities were observed on DWI, and the distribution of grey matter hyperintensities on DWI were visually evaluated. V180I gCJD patients had significantly more cerebral cortex swelling (100% vs. 13.0%, p < 0.001), an overall correct classification of 91.4%, and parahippocampal gyrus hyperintensities on DWI (100% vs. 39.1%, q = 0.019) than sCJD patients. Cerebral cortical hyperintensities on DWI with swelling on T2WI or FLAIR are characteristic imaging findings of V180I gCJD and are useful for differentiating it from sCJD.