We analyzed the records of inpatients with amyotrophic lateral sclerosis (ALS) treated at 27 specialized institutions for muscular dystrophy in Japan from 1999 to 2013 registered in a database on October 1 of each year. The total number of ALS inpatients in 1999 was 29, then that showed rapid increases in 2006 and 2007, and reached 164 in 2013. Age regardless of year was predominantly greater than 50 years. In 1999, the respirator dependent rate was 68.9% and then increased to 92.7% in 2013, while the oral nutritional supply rate was 41.4% in 1999 and decreased to 10.4% in 2013. The number of deaths from 2000 to 2013 was 118. Cause of death was respiratory failure in 26 of 30 patients who maintained voluntary respiration at the time of death and in 5 of 6 with non-invasive ventilation. On the other hand, the main cause of death in patients with tracheostomy invasive ventilation was respiratory infection, which was noted in 26 of 82, while other causes varied. It is expected that the number of ALS patients admitted to specialized institutions with muscular dystrophy wards will continue to increase.

A 60-year-old man developed aphasia and transient right upper limb paresis in the presence of chronic subdural hematoma and was transferred to our hospital at an early stage. Cranial MRI within an hour after onset showed diffusion-weighted image (DWI) hyperintensity in the left parietal, temporal, and insular cortex and the pulvinar, and decreased apparent diffusion coefficient (ADC) in the left parietal cortex and pulvinar, suggesting a differential diagnosis of hyper-acute ischemic stroke. However, the distribution and timing of the MRI abnormalities were considered to be atypical for hyper-acute ischemic stroke. The area with both DWI hyperintensity and decreased ADC included the cerebral cortex adjacent to the hematoma and the ipsilateral pulvinar, and fluid-attenuated inversion recovery (FLAIR) hyperintensity co-existed with DWI hyperintensity within only an hour from onset. Furthermore, FLAIR images showed infiltration of the hematoma content into the subarachnoid space, which might have triggered the attack. These findings collectively led us to diagnose an epileptic seizure. The present case suggests that the distribution and timing of MRI abnormalities are essential to differentiate epileptic seizures from hyper-acute ischemic stroke.

A 54-year-old woman presented at the hospital with headache and posterior neck pain, which worsened when standing or in the sitting position and improved when in the supine position. A diagnosis of rheumatoid arthritis was made at the age ofin 33 years, and the patient has been taking methotrexate and methylprednisolone. Cervical MRI and magnetic resonance myelography showed the appearance of CSF leakage, resulting in a diagnosis of spontaneous intracranial hypotension. A diagnosis of atlantoaxial subluxation was also made based on the abnormal anterior position of the atlas (C1) in the cervical X-ray image. The CSF leakage corresponded with the atlantoaxial subluxation region, which indicated that spontaneous intracranial hypotension was caused by the compression of the dura mater. These symptoms were improved following treatment with the intravenous drip of the extracellular fluids, and she was discharged from the hospital on day 25. The disruption of the dura matter induced by atlantoaxial subluxation is a rare complication but is worth considering when determining the etiology of spontaneous intracranial hypotension.

A 47-year-old man who was previously hospitalized three times due to bacterial meningitis experienced a headache and posterior neck pain in May. He was admitted to our hospital because of a fever 3 h later. He was fully conscious and febrile, with a headache and signs of meningeal irritation. A cerebrospinal fluid examination showed an increased number of cells with polynuclear cell predominance and decreased glucose levels, leading to the diagnosis of bacterial meningitis. Steroid and antibiotic treatment was initiated, at which time, large amounts of nasal discharge were observed. Cisternal scintigraphy was performed, and cerebrospinal fluid was detected in the nasal discharge. The cause was idiopathic, and endoscopic repair was performed. The nasal fluid leakage was suggested to be the cause of the recurrent bacterial meningitis in this case.

A 90-year-old woman presented with a multimodal (face and voice) person recognition disorder. Although she had moderate general cognitive impairment, her visual cognitive capacity, other than face recognition, was well preserved. She could identify the faces and voices of family members but could not recall the names and voices of relatives whom she met infrequently, famous individuals, or the medical staff. She could remember the first names and some information about prominent individuals when supplied with their surnames. Therefore, we thought that her person-specific semantic memory was intact but she was unable to access it through their faces and voices. MRI revealed predominantly right-sided bilateral anterior temporal lobe and hippocampal atrophy. SPECT images showed decreased blood flow in the bilateral anterior temporal lobes and inferior parietal lobule (heavily and predominantly right-sided), right posterior cingulate gyrus, and precuneus. Progressive person recognition disorder or prosopagnosia has been considered a right temporal variant of frontotemporal lobar degeneration because abnormal behaviors and psychiatric symptoms frequently coexist. However, no such symptoms were observed in this case, therefore we suspected dementia of the Alzheimer type.

A 76-year-old woman with a 7-year history of dementia presented to our hospital with generalized convulsive seizure for the first time. Contrast-enhanced brain magnetic resonance imaging revealed leptomeningeal enhancement mainly in the right occipital lobe and multiple lobar microbleeds in the bilateral cerebral and cerebellar subcortex. No white matter lesions were observed. A brain biopsy of the right parieto-occipital lobe revealed cerebral amyloid angiopathy (CAA). White matter lesions appeared in the right parieto-occipital lobe three days after the biopsy, and we considered inflammatory CAA. Three courses of methylprednisolone pulse followed by oral prednisolone therapy gradually reduced leptomeningeal and white matter lesions. An apolipoprotein E genotype investigation identified the ε2/ε3 genotype. In patients with inflammatory CAA, a risk of exacerbation should be considered after brain biopsy, in which the ε2 allele might play a role.

All three patients were men in their 70s. All cases were solitary onset and the chief complaint was gait disturbance. All patients had miosis and limb and trunk ataxia, MMSE score was declined in two patients, and FAB score was declined in all patients. Head MRI showed leukoencephalopathy, cerebellar atrophy, and DWI high intensity signal in corticomedullary junction. However, two of the three patients were not followed up without further examination. Skin biopsies in all cases showed ubiquitin-positive and p62-positive intranuclear inclusions. Genetic testing showed CGG repeat expansion of NOTCH2NLC. The diagnosis of neuronal intranuclear inclusion disease (NIID) was made based on the above findings in all cases. Most patients are diagnosed with NIID due to memory loss, but sometimes they are diagnosed due to gait disturbance with ataxia. It is important to proceed with the diagnosis by skin biopsy and genetic diagnosis based on the characteristic MRI findings of the head.

A 49-year-old woman with intellectual disability and a food preference for fried chicken entered a nursing home. After nursing home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic food preference and the negative results for brain and liver imaging studies suggested urea cycle disorder. A high plasma citrulline level on amino acid analysis and a genetic test for citrine gene confirmed a citrine deficiency (adult-onset type II citrullinemia). Although a low-carbohydrate diet was insufficient, a combination therapy of a low-carbohydrate diet and a medium-chain triglyceride (MCT) oil was effective. MCT oil may be a promising treatment option.

There are only a few reports on Go-induced epilepsy. We hereby report a case of Go-induced epilepsy and its ictal electroencephalography (EEG) findings, and treatment. A 71-year-old man reported to our hospital for seizures that lasted for several minutes after he had played Go for approximately an hour. Ictal EEG showed focal to bilateral tonic-clonic seizures of right parietal origin. He was administered levetiracetam 500 mg before the games, and he participated without seizures for more than a year. Go-induced epilepsy is considered to have a focal onset, and it may be controlled with antiepileptic drugs before the games.