Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism. The copper accumulates in the liver, brain, cornea, kidney, and other organs. This disease should be considered any individual with liver abnormality except infant, any patient older than teenage with neurological (especially for extra pyramidal signs) or neuropsychiatric disorder with or without liver disease and sibling of Wilson disease patient. Typically, a combination of low serum ceruloplasmine levels and high levels of urinary copper contents is sufficient to establish a diagnosis. As other diagnostic tests, measurement of hepatic copper content and ATP7B gene analysis are available. The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents, such as D-penicillamine or Trientine, and/or zinc acetate. The author recommend zinc acetate monotherapy for mild to moderate hepatic disorder, Trientine mono therapy for mild to moderate neurologic disorder and combination therapy of Trientine and zinc acetate for sever hepatic or neurologic disorder.

Here, we describe a case involving an 83-year-old woman who was admitted to our hospital for rehabilitation after pseudogout treatment. She had temporal and spatial disorientation. Neuropsychological assessment revealed frontal dysfunction, memory impairment, and executive dysfunction, in addition to general cognitive impairment. Subsequent laboratory examination revealed euthyroid status and elevated titers of anti-thyroid autoantibodies. MRI of the brain revealed no abnormal finding. However, electroencephalography revealed diffuse slowness. We diagnosed Hashimoto’s encephalopathy on the basis of the clinical symptoms and laboratory findings. Administration of low-dose prednisolone (5 mg/day) alleviated general cognitive impairment and the laboratory findings; however, memory impairment and construction disorder remained. Previous studies suggest that the characteristics and clinical course of higher brain-function disorder associated with Hashimoto’s encephalopathy vary on an individual basis, wherein some patients may respond well to low-dose steroid therapy. Here, we also encountered such a case, that showed good response to a low-dose steroid therapy.

A 66-year-old man was admitted to our department with anterograde amnesia. He was diagnosed with transient global amnesia (TGA) because of the symptom lasting for several hours and no abnormal findings on MRI and EEG. About a year after the episode, he recurred amnesia lasting only for 20 minutes. MRI diffusion weighted image (DWI) revealed a small hyperintense signal in the right hippocampus, while there was no abnormality on EEG. We diagnosed him with recurrent TGA. This case may be interesting in that symptom duration and MRI-DWI finding are much different between two attacks of TGA.

Many cases of acute flaccid paralysis occurred during an enterovirus D68 (EV-D68) outbreak in North America in the fall of 2014, and this epidemic has been newly defined as a distinct disease entity named acute flaccid myelitis (AFM). This disease entity is relatively popular among pediatricians, whereas it remains little-known among neurologists in Japan. We reported a 7-year-old girl with AFM, in whom severe limb weakness and respiratory failure developed five days after appearance of respiratory symptoms. Clinical features of our case were mimicked by those of acute axonal motor neuropathy at early stage of the disease, and this resulted in delayed diagnosis of AFM. DNA of EV-D68 was not detected. There are few reported cases of severe AFM, in which artificial ventilation is needed for a long time including both acute and recovery phases of the illness, and functional prognosis of AFM is discussed by literature.

A 53-year-old man was referred to our hospital because of fever and disturbed consciousness with a left-sided toothache from 5 days ago. Neurological examinations revealed a low level of consciousness, nuchal rigidity, bilateral mydriasis, and positive Babinski sign. A lumbar puncture yielded clouded fluid with a WBC 22,698/μl (polynuclear cell 98%), 681 mg/dl of protein and 0 mg/dl of glucose. The antigen of Streptococcus pneumoniae in urine and cerebrospinal fluid (CSF) were positive. Streptococcus pneumoniae was isolated from CSF culture. Brain CT on admission showed a communicating hydrocephalus. Diagnosis of pneumococcal meningitis with hydrocephalus was made and we treated with ceftriaxone and dexamethasone. The lumbar drainage placed at L 3/4 level became occluded, thus, extra-ventricular drainage was performed. Intracranial pressure (ICP) was 20 cmH₂O upon insertion of the ICP sensor. At Day 2, the ICP decreased to 10 cmH₂O and never increased during his course of hospitalization. Repeat brain CT showed no hydrocephalus. He responded to antimicrobial therapy and became lucid and afebrile. At Day 4, the extra-ventricular drainage was removed because of bleeding from right choroid plexus on brain CT. We treated with antimicrobial therapy until Day 21. He was transferred to another hospital for rehabilitation with mild neurological sequelae at Day 31. The cases presenting with hydrocephalus in the acute phase of bacterial meningitis has a high mortality rate. The presence of hydrocephalus is a poor prognostic factor. Although the therapeutic value of extra-ventricular drainage for hydrocephalus has been unclear, his report represents a case for neurologists to consider performing extra-ventricular drainage for hydrocephalus.

A 24-year-old man, who had been treated for 3 years as Asperger syndrome in adolescence due to behavioral disturbances, lack of social awareness and inability to socialize, was referred to our hospital shortly after tremors developed. On the basis of clinical features, laboratory findings and the brain MRI, a diagnosis of Wilson’s disease (WD) was made. WD was further confirmed by genetic testing (the mutation of ATP7B gene). He was started with trientine hydrochloride 500 mg/day, and after 1 year of follow-up, his psychiatric symptoms have improved. Since psychiatric symptoms may precede the neurological symptoms, the possibility of WD should be always considered in the differential diagnosis of psychiatric disorders in young adults.

A 72-year-old man presented with continuous hyperCKemia and intermittent claudication. He exhibited no calf muscle hypertrophy at that time or afterward. Other than an increased creatine kinase (CK) level (1,525 U/l), none of the laboratory tests was abnormal, including that for myositis-related autoantibodies. Electromyography showed neurogenic changes in the left gastrocnemius. Lumbar magnetic resonance imaging revealed spinal canal stenosis (L3/4, L4/5), left L4 radiculopathy, and bilateral S1 radiculopathy. T₂-weighted and short tau inversion recovery images showed high signal intensity in the bilateral biceps femoris and gastrocnemius. Histopathological evaluation of a specimen obtained from the right gastrocnemius muscle revealed neurogenic changes. The patient was diagnosed with S1 radiculopathy caused by lumbar spinal canal stenosis with hyperCKemia. Although S1 radiculopathy with hyperCKemia is usually associated with calf muscle hypertrophy, we should consider S1 radiculopathy in patients with intermittent claudication and hyperCKemia even in the absence of calf muscle hypertrophy.

Background and Purpose: The purpose of this study was to elucidate the association between aseptic meningitis and jolt accentuation of headache (JAH) in adults. Subjects and Method: 87 patients with meningeal irritation (age; 35.6 ± 13.3 years old, 45 males) who were admitted to our hospital from 1st August 2013 to 31st August 2018 were included. The diagnosis was determined according to the following criteria:, aseptic meningitis was defined as cerebrospinal fluids (CSF) pleocytosis with no evidence of bacterial infection, fungal infection or carcinomatous findings; meningism was defined as the absence of CSF pleocytosis. None of these patients had consciousness disturbance and focal neurological abnormalities. The blood and CSF data were reviewed for analysis. Results: 61 patients were in aseptic meningitis group, 26 patients were in meningism group. Multiple logistic regression analysis showed older age (OR 1.059, 95% Confidence interval (CI) 1.012–1.108, P = 0.013), lower CRP (OR 0.803, 95%CI 0.697–0.925, P = 0.002) and absence of JAH (OR 0.048, 95%CI 0.004–0.554, P = 0.015) were significantly associated with aseptic meningitis. The sensitivity and specificity of JAH in aseptic meningitis were 68.9%, 3.8%.

An 85-year-old Japanese female was admitted with sudden onset of quadriparesis with areflexia. Preceding infection was not present. IgG anti-GT1b antibodies were prominently positive in serum. Nerve conduction study results suggested Guillain-Barré syndrome (GBS) classified as acute motor sensory axonal neuropathy (AMSAN). While intravenous immunoglobulin (IVIg) was started, bulbar palsy and respiratory failure progressed and the condition deteriorated. Although mechanical ventilation was required, second IVIg course led to gradual improvement of quadriparesis and bulbar palsy. In the present case with elderly-onset disease, the levels of anti-GT1b antibodies were elevated, which is relatively rare in GBS. It was suggested that anti-GT1b antibodies may be related to the development of axonal GBS with bulbar palsy.

A 68-year-old woman with a medical history of interstitial pneumonia associated with systemic sclerosis (SSc) presented with numbness of the lower limbs and left drop foot. She was diagnosed with multiple mononeuropathy based on the laterality of her symptoms, muscle weakness, thermal hypoalgesia, and nerve conduction study findings. Left sural nerve biopsy showed vasculitis, and steroid therapy was effective. This case highlights the importance of histopathological assessment to select an appropriate treatment strategy.