Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy caused by impaired glucose transport across the blood-brain barrier, and ketogenic diet therapy is the first-line treatment. The patient was a 21-year-old woman. In childhood, she developed postexercise hemiparesis and decreased activity during the fasting period. Cerebrospinal fluid testing revealed low glucose levels. Subsequent genetic testing identified a pathogenic SLC2A1 variant, leading to the diagnosis. Her symptoms improved with ketogenic diet therapy. After discontinuation at 18 years of age, she remained stable. However, fasting-related fatigue recurred at the age of 20 years. At 21 years of age, she developed brief (~20 s) episodes of impaired awareness with decreased muscle tone. The EEG showed 3-4 Hz generalized spike-and-wave complex. Ketogenic diet therapy was reintroduced with a ketogenic ratio of 1.5:1, leading to reduced EEG abnormalities and symptomatic improvement. Although symptoms usually lessen in adulthood, the reintroduction of ketogenic diet therapy should be considered when symptoms relapse after adolescence.
An 84-year-old man had experienced unsteadiness while walking and coldness in both lower limbs for about 18 months, with gradual progression. Neurological examination revealed decreased tendon reflexes in the lower extremities, a positive Romberg sign, and a wide-based gait. MRI demonstrated spinal canal stenosis in the cervical and lumbar regions. Because concomitant peripheral neuropathy was suspected, electrophysiological studies were performed. Nerve conduction studies showed no evidence of peripheral neuropathy. Tibial nerve somatosensory evoked potentials (SEP) revealed prolonged N21-P38 interpeak latency and reduced P38 amplitude, suggesting a predominant central conduction disturbance. Based on these findings, thoracic MRI was performed and revealed the most severe spinal cord compression at the T9/10 level. Discectomy and posterior decompression at this level resulted in improvement of gait. Tibial nerve SEP can be useful for identifying the responsible level in tandem spinal stenosis.
A previously healthy 20-year-old woman was admitted to our hospital because of psychobehavioral alterations, generalized seizure, and post-ictal drowsiness. Six weeks before this admission, depression developed, followed by dysgeusia, anorexia, hearing loss, auditory hallucinations, logoclonia, and generalized seizures, leading to the first hospitalization. On admission, the temperature was 37°C. She was awake, well oriented, but had logoclonia. Brain MRI and electroencephalography (EEG) were both unremarkable, but cerebrospinal fluid (CSF) analysis revealed 7 cells/μl. After admission, she began to exhibit a variety of psychosomatic symptoms, such as altered sense of time, visual disturbances, visual hallucinations, and phonological paraphasia, and logoclonia. On day 4 she was once discharged home, but 4 days later, she was re-admitted to the hospital because of recurrence of seizure. An EEG recorded on day 1 revealed epileptiform discharges arising from the Cz and Pz. CSF-restricted oligoclonal bands were detected. Because of the suspicion of autoimmune encephalitis, the patient was treated with 3 cycle of intravenous high-dose methylprednisolone and 4 rounds of plasma exchanges, resulting in resolution of seizures; however, cognitive impairment and an altered sense of time persisted. Antibody test results came back positive for GluN1 (estimated CSF antibody titers, 1:4) with neuropil staining on rat brain immunohistochemistry, confirming the diagnosis of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, but no myelin oligodendrocyte glycoprotein antibodies were detected. No ovarian teratoma was found. Following rituximab therapy, cognitive function improved. This case highlights that a forme fruste of anti-NMDAR encephalitis can be attributed to low titers of GluN1 antibodies, and cause a variety of psychosomatic symptoms, without development of typical spectrum of anti-NMDAR encephalitis. Careful assessment is required for appropriate diagnosis and treatment.
A 32-year-old woman developed preeclampsia (PE) with hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome at 34 weeks of gestation. Despite undergoing emergency cesarean section, adequate blood pressure control, and platelet transfusion, she experienced eclamptic seizures and posterior reversible encephalopathy syndrome (PRES) within 24 hours postpartum, which rapidly progressed to a massive subcortical intracerebral hemorrhage. Multidisciplinary management enabled survival, but she was left with severe neurological sequelae. This case highlights the complex pathological interplay in which endothelial dysfunction associated with PE and HELLP syndrome may precipitate eclampsia and PRES, trigger thrombotic microangiopathy, and ultimately result in catastrophic intracranial hemorrhage. In pregnant women with preeclampsia complicated by HELLP syndrome, early recognition of overlapping manifestations and the risk of postpartum deterioration is essential, underscoring the need for comprehensive multidisciplinary care.
A 67-year-old woman underwent total hysterectomy for cervical cancer followed by chemotherapy, achieving partial remission. Post-treatment, lymph node metastases to the left obturator region remained decreased in size compared with pre-treatment. Nine months prior to the last chemotherapy, she developed abnormal sensations and muscle weakness in her left lower limb. Nerve conduction studies revealed axonal damage in the left tibial, peroneal, and sural nerves. Pelvic CT and lumbar MRI showed continuous contrast enhancement and enlargement of the left L5, S1, and S2 nerve roots originating from the left lumbosacral plexus. We considered this to be metastasis from the lumbosacral plexus near the lymph node metastasis site of cervical cancer to the lumbosacral nerve roots. When multiple peripheral nerves in the lumbosacral region are involved in patients with cervical cancer, the possibility of direct tumor infiltration into the adjacent nerve plexus followed by progression along axons to the nerve roots must be considered, even when the primary tumor is controlled.
Obstetric medicine is a specialized field providing medical care to women with internal diseases who wish to conceive or whose conditions manifest during pregnancy. It bridges the gap between internal medicine and obstetrics by addressing the medical complexities that arise when the physiological changes of pregnancy unmask or exacerbate pre-existing conditions. In clinical practice, Japanese physicians rely heavily on electronic package inserts, which are notably conservative; approximately 21.6% of drugs are contraindicated for pregnant women in Japan, compared to only 4.3% in Australia. This discrepancy arises because Japanese labeling often prioritizes animal developmental toxicity data over human epidemiological evidence. However, these inserts do not have absolute binding force, and clinical judgment based on medical validity should prevail. Since pre-marketing clinical trials for pregnant women are ethically nonexistent, risk assessment relies on post-marketing observational studies. We present evidence from an integrated database of 12,971 pregnancy cases, encompassing findings on various medications such as domperidone, fluoroquinolones, and triptans, among others. Regarding multiple sclerosis (MS) therapies, recent data from the German MS Pregnancy Registry on S1P receptor modulators indicate no increased risk of major malformations but suggest potential fetal toxicity, such as an increased risk of small-for-gestational-age (SGA) infants. Through the Japan Association of Medical Sciences' TEAM project, cross-cutting guidelines have been developed to support patients' reproductive goals. We aim for a society where patients can make informed, autonomous choices through shared decision-making with healthcare providers regarding their treatment and pregnancy.
For young doctors and students, presenting a case at a regional meeting may be the first step in their academic careers. Such presentations require appropriate case selection, a satisfactory literature search, discussion with a mentor, writing an abstract, making slides, and providing an effective response to the audience's questions. The sequential process from case experience to presentation provides a valuable learning experience for young physicians and students and enhances their clinical abilities. On the day of the meeting, presenters should ensure that the presentation stays strictly within the allotted time and speak without reading from a prepared script. A good presentation requires (i) simple and understandable slides, (ii) a clear "learning point" for the audience, and (iii) effective spoken delivery.
With the advancement of genetic medicine, opportunities to perform genetic testing in neurology practice are increasing. To address this trend, we conducted a survey on the involvement of neurologists in genetic medicine. A total of 658 respondents (9.6%) participated, and 94.4% reported experience in performing genetic testing. The increased opportunity to perform genetic testing was attributed to the recent emergence of disease-modifying therapies, which are beneficial for the early diagnosis and treatment of patients, as well as the growing need to consider reproductive options such as prenatal testing and preimplantation genetic testing for monogenic disorders. Educational opportunities aimed at improving the genetic medicine skills of all neurologists are urgently needed.
Encephalitis and meningitis are neurological emergencies in which delayed diagnosis may lead to severe neurological sequelae, necessitating accurate and rapid etiological identification. In recent years, metagenomic next-generation sequencing (mNGS), which enables comprehensive analysis of microbial genomes without prespecified hypotheses, has attracted increasing attention. Its clinical application in neuroinfectious diseases has contributed to improved diagnostic yield and the detection of rare pathogens. In particular, mNGS has been shown to be useful in clinically challenging situations such as culture-negative cases, anaerobic infections, mixed infections, and immunocompromised hosts. However, the technology also has inherent limitations, including enormous data volume, challenges in interpreting pathogenic relevance, limited turnaround time, high cost, and a lack of standardized analytical pipelines. Thus, although mNGS represents a valuable complementary tool to conventional diagnostic methods, it is not universally applicable, and its results must be carefully interpreted within appropriate clinical contexts.
A 53-year-old woman presented with chronic anorexia and gait disturbance. During evaluation at another hospital, brain MRI revealed abnormal high signal intensities in both supratentorial and infratentorial regions, prompting referral and admission to our hospital. On admission, she exhibited non-lateralized hypertension, decreased responsiveness, hypophonia, masked face, bradykinesia, shuffling gait, and hyperreflexia. Blood tests showed mild inflammatory markers. Based on her hypertension and MRI findings, posterior reversible encephalopathy syndrome (PRES) was diagnosed, and antihypertensive therapy was initiated. Her symptoms and imaging findings improved, though some abnormalities persisted. During further evaluation for the cause of hypertension, she contracted COVID-19. Despite recovery, low-grade fever and inflammatory response persisted. Contrast-enhanced CT revealed perivascular enhancement around the aortic arch branches, leading to a diagnosis of Takayasu arteritis. This case highlights PRES as a clinical trigger for the diagnosis of Takayasu arteritis.
A 68-year-old man presented with numbness and pain of the hands. Neurological examination revealed distal limb weakness, diminished tendon reflexes, sensory disturbances in all extremities, tremors, ataxia, and orthostatic hypotension, which caused repeated fainting spells and falls. The nerve conduction studies revealed definite demyelinating abnormalities. The cerebrospinal fluid protein levels were markedly increased at 638 mg/dl. The contrast-enhanced MRI neurography revealed nerve root enlargement and enhancement, and the 123I-metaiodobenzylguanidine myocardial scintigraphy revealed abnormalities, indicating postganglionic sympathetic small fiber disturbance. This patient was initially diagnosed with a distal acquired demyelinating symmetric type of chronic idiopathic demyelinating polyradiculoneuropathy (CIDP). Intravenous immunoglobulin (IVIg) therapy was nearly ineffective, which was different from typical CIDP, and corticosteroids demonstrated mild efficacy. Five years after his initial visit, anti-neurofascin-155 (NF155) autoimmune nodopathy was suspected based on his pathognomonic symptoms, examination results, and ineffectiveness of IVIg. Anti-NF155-IgG4 antibodies were negative; however, anti-NF155-IgG antibodies tested positive, leading to a final diagnosis of anti-NF155 antibody-positive autoimmune nodopathy. This case highlights the clinical significance of non-IgG4 class anti-NF155-IgG antibodies and the involvement of postganglionic sympathetic small fibers in anti-NF155-IgG-related autoimmune nodopathy.
Domestic studies examining word fluency tasks in patients with Parkinson's disease (PD) are limited. This study compared quantitative and qualitative features of a word fluency task included in the Japanese version of the Montreal Cognitive Assessment (MoCA-J) between patients with PD and patients attending a memory clinic. We retrospectively analyzed the MoCA-J word fluency task requiring the generation of words beginning with the Japanese syllable "ka" in 100 patients with PD and 100 memory clinic patients. The number of recalled words and linguistic characteristics of the responses were evaluated. Cognitive function was assessed using the Mini-Mental State Examination (MMSE) and MoCA-J. The mean MMSE scores were higher in the PD group than in the memory clinic group (27.6 vs. 24.4), as were MoCA-J scores (23.5 vs. 18.7). The mean number of recalled words did not differ between groups (PD: 9.1; memory clinic: 9.2) and showed positive correlations with cognitive scores. The PD group produced 318 unique words, whereas the memory clinic group produced 285. The proportion of adjectives was lower in the PD group. No significant between-group differences were observed in semantic category classifications, including object names, motion-related words, and emotion/state-related words. Although global cognitive function was relatively preserved in patients with PD, their word fluency performance was comparable to that of memory clinic patients, with subtle differences in linguistic characteristics.
BACKGROUND:Sleep-wake problems and sleep-related disorders, which are common attributes of neurological diseases, often remain under-recognized and under-treated. Insufficient education in sleep medicine might contribute to this gap. METHODS:The Sleep Medicine Section of the Japanese Society of Neurology conducted a nationwide, web-based survey of its full-member physicians (N = 9,703), assessing neurologists' education, clinical practice, and interest in sleep medicine. RESULTS:Of the 904 survey participants, only 10% considered their undergraduate education on sleep-wake problems and sleep-related disorders as adequate, whereas 86% rated it as insufficient. Furthermore, nearly 90% of the participants recognized the importance of these education gaps in neurological practice, and more than 90% expressed a desire for further education. Regarding clinical management, fewer than 5% felt confident and 15% expressed anxiety or a tendency to avoid such cases. Approximately 87% reported encountering such problems and disorders in clinical practice, and 47% reported managing them at least weekly. Insomnia, circadian rhythm sleep-wake disorders, and hypersomnia were considered the most difficult to treat. Respondents showed strong interest in lectures and on-demand webinars on rapid eye movement sleep behavior disorder (71.1%), restless legs syndrome (62.3%), and the relationship between sleep-wake problems or sleep-related disorders and neurodegenerative diseases (77.1%) or dementia (68.3%). CONCLUSIONS:Although the importance of sleep-wake problems and sleep-related disorders and additional educational opportunities are well-recognized, confidence in diagnosis and treatment remained low. This survey revealed an unmet clinical need in sleep medicine among Japanese neurologists, underscoring the importance of structured, accessible education at undergraduate and postgraduate levels.
Opsoclonus-myoclonus syndrome (OMS), characterized by symptoms including rapid eye movements, myoclonus, and cerebellar ataxia, is one of the paraneoplastic neurological syndrome. A 68-year-old woman was admitted with oscillopsia, dizziness, and gait disturbance caused by postural tremor. Clinical evaluation led to a diagnosis of Kelch-like protein 11 (KLHL11)-associated paraneoplastic OMS, secondary to small cell lung cancer (cT1cN3M1a, stage 4A). In most cases, the improvement of the neurological symptoms is limited unless the underlying malignancy is effectively treated. Therefore, cancer therapy in combination with immunotherapy is essential, even in patients with poor performance status. Here, we report a case in which both immunotherapy and cancer treatment led to improvement in neurological symptoms associated with KLHL11-related paraneoplastic OMS.
Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegeneration with brain iron accumulation (NBIA) disorder caused by autophagy abnormalities. Clinical features of BPAN include global developmental delay in early childhood, followed by progression of cognitive dysfunction and parkinsonism in adulthood. A 32-year-old woman diagnosed with BPAN and confirmed by genetic analysis showed motor symptoms that rapidly progressed after the age of 30 years. Baclofen was administered for spasticity, though a high fever and elevated serum CK level were observed, and the symptoms persisted for several months even after stopping the drug. It was suspected that rhabdomyolysis have been due to muscle tissue fragility associated with autophagy impairment in BPAN, in combination with increased muscle tone.
A 68-year-old female was admitted to our hospital because of a right-sided headache since one year, an inability to perform housework, and a decrease in speech since March of that year. Upon admission, higher brain dysfunctions, including attention disorder, aphasia, and apraxia, were observed. Contrast-enhanced MRI revealed dural thickening in the bilateral frontal to parietal lobes and FLAIR imaging revealed high signal intensities in the bilateral frontal brain sulcus. Blood tests revealed a high IgG4 level (273 mg/dl). Dural biopsy revealed infiltration of IgG4-positive plasma cells into the tissue, and IgG4-related hypertrophic pachymeningitis was diagnosed. Administration of prednisolone resulted in resolution of the dural thickening, an absence of FLAIR imaging high signal intensities of the cerebral sulcus, and a considerable improvement of the higher brain dysfunctions. In patients with headache and higher brain dysfunctions, hypertrophic pachymeningitis should be considered in the differential diagnosis.
The Japanese Society of Neurology's Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care initiatives undertaken by various healthcare professionals. The following points were addressed: (1) The Osaka Transitional Care Support Center reported on assistance for patients and families through consultations and pre-transition conferences; (2) The Shikoku Medical Center for Children and Adults introduced a collaborative approach in which transitional support is developed together with children and their families; (3) A staff member with dual qualifications as a certified genetic counselor and a certified intractable disease nurse described transitional care practices at Kanazawa University Hospital; and (4) The Tokyo Metropolitan Transitional Care Support Center presented several programs promoting transitional care, including a "Support Program for Guardians of Patients with Decision-making Difficulties" and a "Chronic Disease Transition App." Collectively, these presentations highlighted the importance of advancing transitional care through effective multidisciplinary collaboration.
