A 57-year-old man with no family history of amyotrophic lateral sclerosis (ALS) or diabetes was diagnosed with ALS, and placed in long-term care where an artificial respirator with tracheotomy was used. He was fed through a gastric fistula tube. He gradually lost the ability to communicate, and computed tomography revealed advanced atrophy of the frontotemporal lobe. He was abruptly suffered from polyuria 11 years after the onset of ALS, and was diagnosed with hyperosmolar hyperglycemic state (HHS). It recurred six years later with severe ascites and worsening of pleural effusion. He passed away 18 years after the onset of ALS. Pathological examination revealed a reduced numbers of Betz cells in the motor cortex, anterior horn cells in the spinal cord, and hypoglossal neurons. The remaining lower motor neurons and cells in the hippocampal dentate gyrus were positive for phosphorylated TDP-43. These corresponded to Type B on harmonized classification system for frontotemporal lobar degeneration (FTLD)-TDP pathology (Mackenzie, et al. 2011). Furthermore, the lateral, anterior, and anterolateral funiculi of the spinal cord, globus pallidus, thalamus, and brainstem tegmentum showed atrophy. The findings were compatible with ALS pathology in totally locked-in state (TLS). Hyalinized islets of Langerhans were observed scattered throughout the pancreas. The patient’s muscles were nearly completely replaced by white, firm fat tissue. We considered that the patient’s diabetic conditions contributed to the accumulation of excess fat in internal and external fat tissue as a result of the long-term dependence on enteral nutrition. Moreover, a disturbance in glucose metabolism in skeletal muscles that resulted from severe atrophy could have been another cause.

A 55-year-old woman with extreme obesity presenting with limb weakness since 1 year was diagnosed with amyotrophic lateral sclerosis (ALS) based on clinical findings and needle electromyography. She had a habit of overeating, and her body mass index (BMI) was 38.2. MRI showed an enlargement of the right central cerebral sulcus, and N-isopropyl-p-[‍¹²³I]-iodoamphetamine single-photon emission computed tomography demonstrated reduced blood flow predominantly in the right frontal lobes, suggesting overlapping frontotemporal dementia (FTD). She maintained adequate dietary intake, and her BMI was stable at 38.2 until 3 months after diagnosis. However, over the next 2 months, her dietary intake decreased owing to pronounced bulbar palsy and BMI decreased to 34.5. At this point, forced vital capacity decreased from 69.3% to 39.0%, while forced expiratory volume in 1 second decreased from 75.3% to 47.7%. Consequently, noninvasive ventilation at night was initiated, followed by tracheostomy invasive ventilation at the emergency department after 2 months. We assume that the frontotemporal lobar degeneration pathology progressed to the frontal lobe and hypothalamus over time, which increased the patient’s excessive appetite and body weight. Her obesity reduced the compliance of the thorax and increased the workload of the respiratory muscles, resulting in rapid respiratory deterioration. Additionally, the extensive neurodegeneration, extending to the area other than the primary motor cortex, might have played a pivotal role in rapid ALS progression. High-calorie nutritional management is generally recommended in patients with ALS. Although the prognosis of patients with ALS having BMI under 27 can be improved via high calorie intake and BMI maintenance, the nutritional management strategy for patients with ALS and high obesity (BMI ≥ 35) remains unclear. Through this case we emphasize that in patients with ALS and FTD excessive appetite and obesity can lead to rapid respiratory deterioration, and therefore, prudent calorie management is recommended.

We report the case of an 82-year-old male with subacute sensorimotor neuropathy associated with Epstein–Barr virus (EBV) infection, who presented with diplopia followed by gait disturbance due to limb weakness. Pathological findings of a biopsied cervical lymph node showed a high frequency of EBV-positive cells. EBV-DNA was detected in blood. A nerve conduction study suggested a mixture of axonal damage and demyelination. Brain MRI showed multiple microbleeds in cerebellar cortices, but cerebrospinal fluid EBV-PCR was negative, suggesting bleeding due to EBV-related vasculitis. Corticosteroid therapy improved the neurological symptoms and the patient was able to walk independently four months later. The main pathogenesis of the neuropathy in this case is likely to be a mixture of vasculitic neuropathy and immune-mediated demyelinating neuropathy, which are considered to be due to EBV reactivation.

A 51-year-old Japanese man presenting with a several-month history of parasomnia, orthostatic hypotension and generalized myokymia was admitted to our hospital. He had a past medical history of unresectable recurrent thymoma, but chemotherapy for thymoma was discontinued according to the patient’s decision four years before this hospitalization, and the thymoma had enlarged. He exhibited symptoms of the peripheral nervous system (myokymia), central nervous system (parasomnia, short-term memory impairment), and autonomic nervous system (orthostatic hypotension), and his serum was positive for voltage-gated potassium channel (VGKC)-complex antibodies. Based on the above findings, Morvan syndrome was diagnosed. Resumption of chemotherapy for thymoma resulted in shrinkage of the thymoma accompanied by remission of Morvan syndrome. Subsequently, discontinuation of chemotherapy led to aggravation of thymoma with recurrence of Morvan syndrome. This clinical course suggests a strong correlation between the disease activity of thymoma and Morvan syndrome. In the present case of Morvan syndrome associated with unresectable thymoma, chemotherapy contributed to the remission of Morvan syndrome. Our patient suggests a possibility that chemotherapy for thymoma is a useful treatment for Morvan syndrome.

Three patients with multiple system atrophy (MSA) who have been hospitalized for aspiration pneumonia underwent aspiration prevention surgery. Laryngeal closure was performed in 2 cases, and laryngotracheal separation was performed in 1 case. Two patients were able to continue oral intake. No recurrence of aspiration pneumonia was observed in all cases after the operation for about two years, and the reduction in the number of aspirations at night improved the patient’s QOL and reduced the burden on the caregiver. It was considered that the appropriate time for surgery was when communication in vocal language became difficult. It was a time when the loss of vocal function was well accepted in 3 cases. Aspiration prevention surgery may be a useful treatment option because it may contribute to prolonging the prognosis of life by reducing the complications of respiratory infections.

We present a 71-year-old woman with an eight-year history of Parkinson’s disease (PD). She began to experience wearing-off at the age of 66 and subsequently developed dyskinesia. She had worsened dyskinesias for three days, followed by a high fever, and she was subsequently hospitalized. On admission, severe dyskinesia, hyperpyrexia, and elevation of serum creatine kinase were observed. Severe dyskinesia without rigidity continued throughout the day and she was diagnosed with dyskinesia-hyperpyrexia syndrome (DHS). She was treated with standard medical care and anti-parkinsonian medications were reduced drastically. Dyskinesia started to wane three days after admission and almost disappeared on day twelve. Prior to admission, the patient reported she had been taking two to three times the dose prescribed of istradefylline, which was the suspected to be a trigger of DHS. Because DHS is a rare but potentially life-threatening complication, early recognition and diagnosis is vital. A proper treatment strategy for DHS may include standard medical care together with reduced anti-parkinsonian medications.

We describe a 57-year-old female patient who experienced hypercortisolemia caused by adrenal Cushing’s syndrome. Two months post-adrenalectomy, she developed acute severe bilateral pain starting in her fingers and spreading up her arms. In the subsequent two weeks, the patient presented upper extremity patchy paralysis with extension disturbance of fingers. In the following two months, she experienced atrophy of the muscles in the hands and joint contracture. Consequently, we diagnosed her with neuralgic amyotrophy. Nerve conduction studies showed low compound muscle action potential of all the peripheral nerves in the forearms, suggesting motor neuron axonopathy. Gadolinium-enhanced MRI and ultrasound studies did not reveal any abnormalities in the brachial plexus and peripheral nerves of the forearms. The patient tested positive for anti-GalNAc-GD1a-IgM antibodies and received intravenous immunoglobulin 6 months after the onset of symptoms, which resulted in reduction of pain, muscle weakness, and contractures. This rare case of potentially immune-mediated bilateral patchy paralysis may have important implications in the understanding of clinical and pathological heterogenicity of neuralgic amyotrophy.

A 62-year-old Japanese man with a history of smoking, hypertension and paroxysmal atrial fibrillation presented sudden-onset disturbance of consciousness. He had a fluctuating consciousness, transient apnea, and vertical gaze palsy. Brain diffusion-weighted MRI showed hyperintense signals in the rostral midbrain and bilateral paramedian thalami, and the diagnosis of midbrain and bilateral thalamic infarction was made. The midbrain lesion corresponded with midbrain V sign, a characteristic finding of this infarction. Although there are several other deseases causing bilateral thalamic lesion, this sign is very helpful in distinguishing the disease from others. On the other hand, CT angiography visualized another variant of thalamoperforating arteries instead of Artery of Percheron (AOP), the common variant in bilateral thalamic infarction. This case indicates that other anatomical variants of thalamoperforating arteris besides AOP could cause this infarction.

A 56-year-old man with an unbalanced diet who preferred chicken was admitted to the hospital because of heart failure. He was treated with diuretics for heart failure, but muscle weakness in bilateral lower extremities appeared and gradually worsened. He was transferred to our hospital for weakness of bilateral lower extremities. Physical examination revealed mild disturbance of consciousness, pitting edema, weakness of bilateral lower extremities, and areflexia. Based on his current medical history and physical examinations, we considered him to have beriberi neuropathy. Treatment with thiamine rapidly resulted in improvement of his neurological symptoms. His blood vitamin B₁ level was 12 ng/ml (normal range 24–66 ng/ml). We diagnosed him with diuretic-induced beriberi neuropathy. Previous reports have shown that diuretic treatment excretes vitamin B₁ in the urine. His report represents a case for neurologists to consider to treat with vitamin B₁ for beriberi neuropathy when muscle weakness is observed during treatment for heart failure receiving diuretics.