Clinical Neurology最新文献

A 50-year-old Japanese man, who experienced cold symptoms for 11 days, presented to our hospital complaining of hoarseness and dyspnea from the morning of the day of the visit. Laryngoscopy revealed bilateral vocal cord paralysis, and tracheotomy was performed. Specific post-admission interviews revealed that he had suffered from postural finger tremor from 30 years of age, fasciculations of his facial muscle from 47 years of age, and mild dysphagia from 49 years of age. Blood tests showed high serum CK levels, chest computed tomography (CT) revealed gynecomastia, and needle electromyography showed neurogenic changes. An abnormal expansion of the CAG repeat in the androgen receptor gene (47) was found, and spinal and bulbar muscular atrophy (SBMA) was diagnosed. Although SBMA is a rare cause of vocal cord paralysis, this disease should be considered as a differential diagnosis in patients with history or physical findings that are characteristic of SBMA.

The patient is a 17-year-old male. He had a history of hospitalization for influenza at the age of 11, and Brain MRI at that time showed reversible brain lesions in the splenium of the corpus callosum and cerebral white matter. Fifteen months ago, he visited the pediatrics department due to dysphagia, dysarthria, facial paralysis, and muscle weakness. Brain MRI revealed lesions similar to those observed here, and nerve conduction study revealed demyelinating neuropathy. He was treated with intravenous immunoglobulin (IVIg) and intravenous methylprednisolone, and his symptoms disappeared within a few days and Brain MRI 5 weeks after treatment revealed that the lesions had disappeared. Three months ago, while walking, the patient developed a knee strain, which was thought to be a recurrence of the immune-mediated neuropathy. His subjective symptom disappeared after administration of IVIg. The patient was diagnosed with X-linked Charcot-Marie-Tooth disease (CMTX1) based on genetic testing, which revealed a pathological variant of GJB1, c.124A>T (p.Ser42Cys). Peripheral neuropathy in CMTX1 may present with fluctuating symptoms and can be responsive to IVIg treatment. Recurrent brain lesions should also be considered in the diagnosis of CMTX1.

Frontotemporal lobar degeneration (FTLD) encompasses frontotemporal dementia and related neurological disorders including motor neuron disease and movement disorders. During the 21th century, analyses of aggregative proteins suggested powerful hypotheses of gain-of-neurotoxicity or loss-of-function for aggregation-related proteins. However, recent translational researches in collaboration of basic studies and human pathology indicate that FTLD arises from more complex molecular mechanisms than dyshomeostasis of single molecules. Additionally, accumulation of clinicopathological evidences from various countries, genetic backgrounds or clinical specialties (e.g. neurology and psychiatry), suggests diverse phenotypes of FTLD, which are indicative of future paradigm-shift in the concept of FTLD. In this paper, we discuss FTLD pathomechanism on the basis of human pathology.

There are very few organ transplants from brain-dead donors (BD transplants) in Japan compared with other countries. The neuroemergency section of the Japanese Society of Neurology (JSN) conducted a survey on the participation of neurologists in BD determination. The target of the survey was educational and quasi-educational institutions of the JSN. It was found that neurologists served as doctors to legally declare BD in 38% of institutions. Many institutions had neurological staffs with the skills required for BD determination, such as EEG reading (97%), neurological evaluations of BD (93%), judgment of the apnea test (75%), or interpretation of auditory brainstem responses (67%). As many as 96% of the responders considered that neurologists should participate in legal BD determination, although 20% felt that the lack of human resources prevented them from active participation. An inquiry to the Japan Organ Transplant Network revealed that neurologists served as a doctor to legally declare BD in around 80% of legal BD determination cases so far. The neuroemergency section conducted another survey regarding the duration of high-sensitivity and bipolar recording in EEG for BD determination. This was because simplification of EEG recording was planned for the revision of the official manual for legal BD determination. It was found that high-sensitivity and bipolar recording was conducted for 15 minutes or shorter in 52% of institutions. Many existing overseas as well as Japanese guidelines require 30-minute EEG recording for BD determination. However, the only basis was the reports of two cases with drug intoxication in whom EEG reappeared after 20 minutes' electrocerebral inactivity: such patients would not be candidates for donors according to the Japanese guideline. Based on the present results, the minimal required duration of (high-sensitivity and bipolar) EEG recording for legal BD determination was shortened to 15 minutes in the revised manual.

Case: A woman in her 70s. In May, a pancreatic tumor was detected during a medical checkup, and she visited the Department of Gastroenterology of our hospital. She had no subjective symptoms, but she was diagnosed with primary pancreatic cancer and multiple bone metastases. She was undergoing outpatient chemotherapy. In November of the same year, she became aware of numbness in the right cheek area and was referred to our department. Neurologically, abnormal sensation in the area of the second branch of the right trigeminal nerve was observed. Head computed tomography (CT)/MRI showed a mass lesion in the right Meckel's cave, and FDG-PET showed multiple bone lesions as well as abnormal accumulation in the right Meckel's cave. Based on the above, we diagnosed the patient with numb cheek syndrome due to metastasis of pancreatic cancer to Meckel's cave. Neurologists should be aware that numb cheek syndrome can occur in association with an underlying malignancy.

A 65-year-old man was admitted to our hospital following a sudden loss of consciousness and seizures. He presented with fever, and a head MRI revealed lesions in the left medial and lateral temporal lobes, as well as the thalamus. Initially, he was treated for suspected limbic encephalitis, including herpes simplex encephalitis (HSE). While his seizures resolved, aphasia persisted. Subsequent tests ruled out infections or autoimmune encephalitis, and a repeat MRI showed dilation of the left Labbe's vein. Further vascular examination, including MRA, 4D-CTA, and digital subtraction angiography (DSA), confirmed the presence of a dural arteriovenous fistula (dAVF), which drained from the left occipital artery and middle meningeal artery via the left Labbe's vein into the superior sagittal sinus. The patient underwent transarterial embolization for treatment. This case highlights the need to consider a dAVF in the differential diagnosis when a patient presents with seizures, fever, and temporal lobe lesions.

A woman in her 60s had been experiencing numbness in her hands and feet for two weeks prior to the hospitalization, and had difficulty walking. Five years ago, eradication therapy for Helicobacter pylori was attempted twice, but was deemed unsuccessful. Current symptoms: redness of the tongue, stocking-glove type paresthesia, decreased deep sensation in the lower limbs, and trunk ataxia. Blood vitamin B12 levels were low, and a thoracic spinal cord MRI showed symmetric high signals in the posterior columns of the spinal cord. Subacute combined degeneration of the spinal cord was suspected, and vitamin B12 injections were started, allowing the patient to walk independently. Anti-intrinsic factor and anti-gastric parietal cell antibodies were positive, and atrophic gastritis was found on gastroscopy. Based on the above, it was determined that the cause was impaired vitamin B12 absorption due to autoimmune gastritis. In recent years, it has been pointed out that autoimmune gastritis is common among cases of repeated failure of H. pylori eradication, and there is a possibility that this may lead to vitamin B12 deficiency neurological disorders.

The patient was a male in his 30s, under treatment for Crohn's disease of the small intestine since his 20s. He was admitted to the hospital due to worsening renal function. Two days after admission, he suddenly developed left upper and lower extremity paralysis followed by generalized convulsions and decreased level of consciousness. Head MRI showed multiple abnormal signal areas in the bilateral cerebral white matter and multiple microhemorrhages inside the lesions. CSF examination showed 11,136 cells/mm³ (98% polymorphonuclear cells, 2% mononuclear cells), 311 ‍mg/dl protein, 76 ‍mg/dl sugar, and MBP > 2,000 pg/ml. Chest X-ray showed infiltrate and multiple nodular shadows in both lung fields, and venous blood culture detected Staphylococcus epidermidis. Her general condition and neurological symptoms gradually improved after continuation of antimicrobial agents, methylprednisolone pulse therapy, and continuous hemodiafiltration. Acute hemorrhagic leukoencephalitis is a type of severe acute disseminated encephalomyelitis, and cases of marked improvement such as the present case are rare. We report this case with some discussion.

A 32-year-old man presented with the symptoms of a floating sensation, weakness on the right side of the body, and tremor of the right hand. Head MRI was performed, and T₂-weighted images showed high-signal lesions around the lateral ventricles, subcortical white matter, and dorsal medulla oblongata. Moreover, MRI of the cervical spine showed multiple high-signal lesions without contrast enhancement. Based on these findings, the patient was diagnosed with primary progressive multiple sclerosis (PPMS) and was treated with steroid pulse therapy, plasma exchange, and oral fingolimod. However, the patient's condition deteriorated slowly, and he died at the age of 43 years. An autopsy revealed multiple demyelinating lesions in the central nervous system. No inflammatory cell infiltration or macrophage accumulation was observed, and there was no evidence of an active lesion. Herein, we present this rare autopsy case of PPMS in Japan with a review of the literature.