Clinical Neurology最新文献

Functional neurological disorder (FND) has been increasingly reconsidered as a diagnostically and therapeutically tractable entity; however, significant ethical challenges remain in clinical practice. This review summarizes the recent literature and classifies the ethical issues regarding FND into four categories: (1) stigma, (2) misdiagnosis and iatrogenic harm, (3) discrepancies in pathophysiological understanding and neglect of patient experiences, and (4) gender-related and historical biases. Patients with FND are frequently stigmatized, which may compromise their dignity and quality of life. A misdiagnosis can result in unnecessary and potentially harmful interventions. Moreover, persistent gaps between patients' and clinicians' perceptions regarding symptom voluntariness and meaning often lead to inadequate communication and care. Historically, FND has been disproportionately attributed to women, reflecting deep-seated gender biases that continue to influence diagnosis and treatment. Addressing these issues requires careful application of the four principles of biomedical ethics-autonomy, beneficence, non-maleficence, and justice-in clinical decision-making and patient care.

A 58-year-old male was transported by ambulance to our hospital due to shivering, headache, and abnormal behavior, with a high fever, impaired consciousness, and neck stiffness. The cerebrospinal fluid (CSF) tests revealed increase in mononuclear cell count. Cryptococcal antigen tests were positive in both the serum and CSF samples, especially with remarkably high titer in the latter. According to these findings, he was diagnosed with cryptococcal meningoencephalitis (CM). Antifungal therapy was partially effective for the initial neurological symptoms and in the abnormal CSF findings, but on the 17th day of hospitalization, severe neck pain and paralysis were developed. Spinal MRI showed abnormal signal areas in the spinal cord, extending longitudinally from the C2 to Th3 level. Steroid pulse therapy was administered, followed by post-therapy with oral prednisolone. Afterwards, the spinal lesions diminished, and the patient was able to walk independently upon discharge on the 91st day. While late deterioration in CM after antifungal treatment is known, effectiveness of steroid therapy for late-onset myelitis has not been reported so far. This case suggests usefulness of steroid therapy for longitudinal extensive transverse myelitis as late deterioration.

The patient, a 71-year-old woman, was admitted for a generalized tonic-clonic seizure. Initial investigations, including plasma ammonia, were normal, and she was treated for status epilepticus. Consciousness recovered to Japan Coma Scale (JCS) 0, but on day 4 her alertness declined; plasma ammonia exceeded 500 ‍μg/dl, and a dietary preference for beans became apparent. Plasma citrulline was markedly elevated, and genetic analysis confirmed adult-onset type II citrullinemia (CTLN2). A low-carbohydrate, high-fat diet enriched with medium-chain triglyceride oil was initiated, yet higher order cognitive deficits persisted. Because CTLN2 exhibits diurnal fluctuations in blood ammonia, in cases of unexplained impaired consciousness it is essential to ask about food preferences and to measure plasma ammonia repeatedly to enable timely diagnosis and treatment.

In recent years, advances in imaging analysis technologies, including CT perfusion, MRI, and AI analysis, have extended the therapeutic time window for acute ischemic stroke to as long as 24 hours. In Japan, however, while MRI remains the predominant modality, the dissemination and utilization of perfusion imaging are still limited, and institutional challenges persist. Moreover, even among neurologists specializing in stroke, the understanding and integration of perfusion imaging and AI technologies remain insufficient. This article provides an overview of these developments, and it is anticipated that future strategies will focus on constructing novel diagnostic approaches that integrate AI technologies with Japan's unique MRI environment.

Amyotrophic lateral sclerosis (ALS) is an intractable motor neuron disease characterized by progressive degeneration of motor neurons with varying degrees of frontotemporal lobe dysfunction. This English summary of the addendum to the Japanese clinical practice guidelines for ALS outlines major recent advances in pharmacological therapy in Japan. Following the development of the 2023 guidelines, three additional medications-oral edaravone, high-dose intramuscular mecobalamin, and tofersen-have been introduced. Oral edaravone, with its ease of administration, demonstrates pharmacokinetics comparable to the intravenous formulation. High-dose mecobalamin reduces functional decline when initiated early in the disease course. Tofersen, an antisense oligonucleotide, is the first gene-targeted therapy approved in Japan for patients with copper/zinc superoxide dismutase gene-related ALS, highlighting the importance of genetic testing and counseling in all ALS cases. This addendum provides updated expert consensus recommendations for the use, dosing, and monitoring of these therapies, while emphasizing the need for thorough communication about the ethical and psychological dimensions of genetic testing. It also addresses practical considerations for combination therapy, noting that up to three or four anti-ALS agents are now available in Japan. The long-term safety and efficacy of these therapies, as well as their potential synergistic or additive effects, remain to be clarified through real-world data and prospective registries. The objectives of this addendum are twofold: to present these advances and recommendations in English to foster international collaboration, and to inform the global ALS community about the latest therapeutic strategies in Japan. In addition, ongoing efforts to harmonize clinical evaluation standards and promote international clinical trials are highlighted, with the goal of improving patient outcomes and advancing ALS research worldwide.

The patient was a male in his 50s. He had been aware of headache since the end of April, X year, and was admitted to the Neurosurgery Department of X Hospital in early May; however, his headache and posterior neck pain worsened. He was discharged from the previous hospital and admitted to this hospital in late May. His consciousness was clear, and there were no abnormalities in his cranial nerves or limb motor systems. Tendon reflexes were normal and Babinski's sign was negative. He complained of posterior neck pain and remained in bed all day with his neck flexed backward. Head MRI showed a high fluid-attenuated inversion recovery (FLAIR) signal, high diffusion-weighted imaging (DWI) signal, and low T₂* signal around the inferior horn of left lateral ventricle, and contrast-enhanced MRI showed a diffuse contrast effect on the cerebral surface, brainstem, and spinal cord soft membrane. Cerebrospinal fluid (CSF) analysis showed 98 cells/μl (66% mononuclear cells, 34% polymorphonuclear cells), protein level of 140 ‍mg/dl, and glucose level of 32 ‍mg/dl (simultaneous blood glucose 160 ‍mg/dl); cytology was negative. Malignant lymphoma, fungal/tuberculous meningitis, meningeal carcinomatosis, and granulomatous disease were suspected; however, no abnormalities were observed. In mid-June, the patient's condition suddenly deteriorated, and he died. Autopsy revealed an epithelioid glioblastoma (isocitrate dehydrogenase [IDH]-wild-type, World Health Organization [WHO] grade IV) near the left subventricular angle, with diffuse infiltration of the glioblastoma on the cerebral surface, brainstem, and spinal cord pia mater. The patient was diagnosed with glioblastoma with diffuse leptomeningeal spread.

The case involves a 60-year-old female with a history of more than five years of treatment with a thrombopoietin receptor agonist (TPO-RA) for idiopathic thrombocytopenic purpura (ITP). She presented to our hospital with complaints of headache and left hemiparesis. Diffusion-weighted MRI of the head showed mild hyperintensity from the right thalamus to the basal ganglia, suggesting edematous changes. The patient was diagnosed with cerebral venous sinus thrombosis caused by thrombocytopenia induced by TPO-RA therapy. It is necessary to consider that there is a risk of thrombosis not only in the early stages after starting TPO-RA therapy but also in cases such as this one, even after a long period of time.

A 51-year-old woman presented with left drop foot at age 20, numbness in the right fourth and fifth fingers at age 45, and numbness in both lower extremities at age 51. Lumbar MRI revealed multiple cauda equina nodules, while ultrasonography of the peripheral nerve identified enlarged nerve bundles in several locations, including the right ulnar and left peroneal nerves. Nerve conduction studies and upper extremity MRI findings were consistent with these observations, and head MRI confirmed the absence of auditory schwannomas. Schwannomatosis (SWN) is a rare disease characterized by the formation of multiple peripheral schwannomas, associated with genetic abnormalities such as SMARCB1 and LZTR1. When multiple peripheral nerve tumors are detected, SWN should be considered as part of the differential diagnosis.

Perioperative complications of MR-guided focused ultrasound therapy for Vim-targeted tremor are often reported, such as weakness and paresthesia. In this paper, five cases of dysgeusia after MR-guided focused ultrasound therapy targeting the Vim in patients with essential tremor are presented. All patients also suffered from sensory disturbances. In most cases, dysgeusia is mild, but there have been reports of patients with severe weight loss. Dysgeusia has also been reported in deep brain stimulation therapy. Dysgeusia is a complication that should be considered in the treatment of Vim-targeted tremor. Our own cases of taste disorder are reported, along with a review of the literature.