We reported two patients with acute ischemic stroke who had presented with symptoms of thyroid storm. Case1: A 43-year-old man abruptly developed left hemiparesis caused by the right middle cerebral artery occlusion. Cardiac evaluations revealed atrial fibrillation and left atrial enlargement. He had successful recanalization after reperfusion therapies. Case 2: A 66-year-old woman with severe bilateral middle cerebral artery stenosis presented with right hemiparesis and dysarthria. MRI revealed the acute infarction in the left frontal and parietal lobe. In both cases, protein C activity was decreased which could be related to severe hyperthyroidism. They concomitantly had arterial lesions where blood stasis could occur. Severe hyperthyroidism which could evoke the decreasing of protein C activity could be responsible to develop acute ischemic stroke.

This case involved a 65-year-old woman, who had been suffered from weakness in both legs for 10 years. She had not been diagnosed of dystrophia myotonica type 1 (DM1) despite her son’s diagnosis of DM and her distinct facial features and gait anomaly. During her son’s recent clinical visit, she was finally suspected of having DM. She was sent to our institution, where a distinct muscle atrophy and grip myotonia were observed and a genetical examination was performed. The sequencing data confirmed her diagnosis of DM1 due to the distinct 230–900 CTG repeats found in the dystrophia myotonica protein kinase gene 3' untranslated region. A brain MRI revealed an abnormal lesion with irregular ring-enhancement at the right temporal lobe. Because of the steady growth of the lesion during one month observation, a surgical intervention was performed in our institution. The histopathological examination gave a diagnosis of glioblastoma multiforme (GBM). The clinical management of the patient required special cares during the perioperative periods due to the distinct pathological manifestation of DM. The risk of developing cancer in DM patients has been estimated about twice as much as general population. Since GBM developed in the DM patient is rarely reported, we present this rare case with a few insights: the difficulties of the clinical management of DM patients under the perioperative stress; the pathological contribution of DM to the malignant transformation of the glial cells.

A 71-year-old woman with schizophrenia and diabetes discontinued psychotropic drugs due to right purulent knee bursitis. Five days after discontinuation, she presented with a fever of >40°C, severe disturbance of consciousness, lead-pipe muscle rigidity, tachypnea, and hypertension. She was diagnosed with neuroleptic malignant syndrome (NMS) induced by the discontinuation of psychotropic drugs. The patient’s symptoms improved after dantrolene administration and systemic management. We investigated the clinical characteristics of cases with NMS induced by the discontinuation of psychotropic drugs reported in Japan, including the present case. When psychotropic drugs are discontinued, patients should be monitored for signs of NMS. Strict management of early onset NMS is needed to prevent the condition from worsening.

The patient exhibited plantarflexion during walking at the age of five. He then developed writer’s cramp at the age of six, dysphonia at 15 years, and action-induced dystonia with left knee elevation and trunk swinging when walking at 16 years, which subsequently spread to the right leg at 19 years. Levodopa therapy was ineffective for dystonia. Brain MRI showed no abnormalities. He was diagnosed with DYT28 after detecting a novel heterozygous mutation (c.433C>T, p.Arg145*) in the KMT2B gene using whole-exome sequencing at age 39. Furthermore, the patient’s parents exhibited normal alleles, confirming the de novo status of KMT2B gene mutation. We should consider DYT28 in addition to DYT1 and DYT5 in patients who developed leg dystonia in childhood.

We report the clinical course of three cases of anti-ganglionic acetylcholine receptor (gAChR) antibody positive auto-immune autonomic ganglionopathy (AAG) that have been followed for over 5 years. In all three cases, the symptoms improved by acute treatment, but ultimately relapsed. The first case was a female in her 20s who had a chronic history of photophobia, constipation and amenorrhea. The symptoms almost disappeared by plasma exchange, and menstruation resumed. During the course, it relapsed once after a cold. There was no recurrence of AAG during the two pregnancies. The second case was a male in his 60s who visited a hospital for the acute onset of orthostatic hypotension (OH) and psychological symptoms (infantilization and psychogenic pseudosyncope). Although IVIg was effective, it recurred frequently and was difficult to treat. However, all the symptoms disappeared eight years after the onset without any particular reasons. The third case was a female in her 80s who had a chronic history of OH. Acute treatment was effective, but AAG recurred repeatedly. Additionally, it was difficult to judge relapse because of the residual sequelae. During the course, cerebral hemorrhage due to supine hypertension or short-time blood pressure variability and femoral neck fracture caused by OH occurred. She eventually became a wheelchair. This report is clinically important because there are few reports of long-term follow-up of AAG.

A 41-year-old man visited our clinic because of headache with fever, suggestive of aseptic meningitis. His headache improved in a few days. His neurological examination showed positive jolt accentuation and myoclonus of the thoracoabdominal muscles extending to extremities upon patellar tapping. His myoclonus had been occurring spontaneously from early adolescence, especially in relaxed states such as drowsiness. The myoclonus was not triggered by tactile, auditory, or visual stimulation. Polymyography revealed that the myoclonus originated around the T4 spinal level and slowly propagated both upward and downward. These findings were indicative of spontaneous and reflex propriospinal myoclonus (PSM). No abnormalities were seen on brain and spinal MRI. Furthermore, the amplitude of the cortical component of the somatosensory evoked potential (SEP) after electrical stimulation of the tibial nerve was enlarged bilaterally. It was speculated that the ascending signals from the myoclonus generator at T4 to S1 may have modulated the excitability and inhibitory function of S1 in this patient. This report may be the first case of idiopathic PSM accompanied by giant SEP.

A 35-year-old Japanese man had been treated for alcoholism until 6 months before coming to our hospital, after which he discontinued treatment for alcoholism. He noticed dizziness from two weeks ago. He visited our hospital because his dizziness was worsened and he noticed diplopia from two days ago. Physical examination revealed bilateral abducens nerve palsy, decreased limb tendon reflex, and ataxia. His blood vitamin B₁ level was 16 ng/ml (normal range 24–66 ng/ml). FLAIR images on brain MRI showed high signal intensity lesions in the bilateral abducens nuclei and mammillary body. We diagnosed him as Wernicke encephalopathy (WE) with lesions in the bilateral abducens nuclei. Treatment with thiamine rapidly resulted in improvement of his neurological symptoms and MRI findings. He was discharged from our department on the 10th hospitalization day. Previous reports have shown that abducens nerve palsy and horizontal gaze evoked nystagmus may occur in the early state of WE. This case report highlights the importance to comprehend the atypical MRI findings of WE to treat a patient at the early stage.

The patient was a 32-year-old man with no HIV infection and possible syphilis infection at the age of 22 years. At the age of 29 years, he visited an ophthalmologist for diplopia due to right oculomotor nerve palsy. He underwent diplopia strabismus surgery for unexplained oculomotor nerve palsy. At the age of 31 years, he had a left oculomotor nerve palsy and was referred to our department. He was diagnosed with neurosyphilis based on positive serum and cerebrospinal fluid syphilis antibodies. MRI showed aneurysm, asymptomatic cerebral hemorrhage, and contrast enhancement of the left oculomotor nerve, leading to the diagnosis of meningovascular syphilis. The patient’s symptoms improved with penicillin and corticosteroids. The oculomotor nerve palsy may be due to microcirculatory disorder caused by syphilitic cerebral endarteritis.