Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date, more than 50 different CYP27A1 mutations, including missense mutations, frameshifts, and splice site mutations, have been reported worldwide in patients with CTX. Clinical presentation is characterized by neonatal jaundice or cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and progressive neuropsychiatric disturbances; however, combinations of symptoms vary from patient to patient. Neuropsychiatric abnormalities include mental retardation or dementia, psychiatric symptoms, cerebellar signs, pyramidal signs, progressive myelopathy, peripheral neuropathy, extrapyramidal manifestations, and seizures. Replacement treatment with chenodeoxycholic acid in the early stage of the disease has been reported to improve or even prevent clinical symptoms of CTX. After significant neurological pathology is established, the effect of the treatment is limited and the deterioration of clinical manifestations may continue; therefore, early diagnosis of CTX is crucial.

Kumamoto Earthquakes in 2016 severely affected medical circumstances and condition of each patient with neuro-muscular diseases, in addition to having destroyed life circumstances of local residence. Number of neuro-muscular disease patients admitted to the Department of Neurology, Kumamoto University, the only university hospital in the prefecture, increased approximately twice compared to usual years. Most of the related facilities were able to admit emergency patients with neuro-muscular diseases although the hospital buildings were damaged in various degrees. A number of issues remained unsolved as to emergency contact system, securement of emergency beds for severe neuro-muscular diseases, and information system for these patients.

Objective: Myasthenia gravis (MG) is an immunological disorder of the neuromuscular junction, characterized by easy fatigability and weakness of the skeletal muscles. However, it has sometimes been reported that heart diseases including cardiomyopathies leading to sudden death have been observed in patients with MG. We studied the prevalence of electrocardiographic (ECG) abnormalities and heart disease in patients newly diagnosed with MG who had not received immunotherapy. Methods: Fifty-three patients with MG were enrolled in our study. We reviewed the ECG recordings of all patients on admission, and assessed the prevalence of ECG abnormalities and heart diseases associated with MG. Results: Thirty-three (62.2%) patients had ECG abnormalities, including early repolarization (15 patients), negative T waves (9 patients), left ventricular hypertrophy (5 patients), and prolonged QTc (4 patients). A higher frequency of early repolarization was observed in patients with MG compared to healthy subjects. Discussion: ECG abnormalities in patients with MG were more prevalent in our series than in the general population. This may be because of the increasing incidence of MG in the elderly. However, we also observed that younger patients developed severe heart disease, indicating the possibility of other mechanisms, such as the presence of antimyocardial antibodies. Clinicians should be aware of the complications of heart disease in patients with MG, especially during the perioperative period for thymectomy or thymomectomy.

We recently developed a new clinical test named card placing test (CPT) which can assess a subject’s ability to deal with visuospatial information. The CPT requires a subject to recreate an array of three cards, each of which was randomly placed on eight grids around the subject, before (CPT-A) and after the subject’s rotation (CPT-B). With this design, the CPT can assess a subject’s ability to represent visuospatial information either egocentrically (CPT-A) or allocentrically (CPT-B). We administered the test on two patients with topographical disorientation; one with egocentric disorientation and another with heading disorientation. The patient with egocentric disorientation demonstrated poor performances on both CPT-A and CPT-B. The patient with heading disorientation, on the other hand, showed good record results for CPT-A but poor ones for CPT-B. An implication is that the patient with egocentric disorientation had disorder in an egocentric reference frame per se, while the patient with heading disorientation could not integrate information on the spatial locations derived from an egocentric reference frame with that on changes of the body directions. We suggest that the CPT is a simple and useful clinical test to evaluate patients with topographical disorientation.

A 64-year-old man presented with acute onset of generalized seizure and encephalopathy. FLAIR images of brain MRI showed multifocal high-intensity lesions of the white matter. Within few days after the treatment with intravenous methylprednisolone (1,000 mg/day for 3 days), amelioration of clinical symptoms and recovery of MRI findings were observed. Six months after the withdrawal of oral steroid therapy, recurrent lesions were observed at the same locations as initially revealed on admission. Due to the concomitant development of peripheral lymphocytosis, a brain biopsy was performed from a right frontal lesion. Histological findings suggested extensive demyelination accompanied by infiltration of inflammatory lymphocytes and macrophages. In spite of the temporary remission after re-initiation of oral steroid therapy, reduction of oral steroid dosage resulted in new lesion formation apart from the initial locations. Based upon clinical features, MRI findings and histological examination, he was diagnosed with multiphasic disseminated encephalomyelitis (MDEM). Acute disseminated encephalomyelitis (ADEM) is one of common causes of demyelinating disease among children. However, multiphasic form of ADEM is particularly rare in adult patients. Here we reported a rare case of adult-onset MDEM, in which clinical, radiological and histological features were described, and efficacy of steroid therapy was highlighted.

A 61-year-old woman was admitted to our hospital for speech disturbance and mild consciousness impairment. Despite the absence of seizures or loss of consciousness, electroencephalographic abnormalities were observed, and the cerebral blood flow scintigraphy revealed an increase in cerebral blood flow in the left temporal lobe. These findings suggested a diagnosis of non-convulsive status epilepticus. On the third day, a twelve-lead electrocardiogram showed a negative T-wave in I, II, aVf, and V2–6. Moreover, a transthoracic echocardiogram revealed left ventricular apical akinesis. However, the coronary angiography showed no evidence of vascular stenotic lesions. We expect the present case report to contribute to the identification of non-convulsive status epilepticus with Takotsubo cardiomyopathy.

A 35-year-old man showed a convulsive attack with consciousness loss and was suspected of having Brugada syndrome 6 months prior to admission to our hospital. At the initial examination, the patient showed conjugate deviation, followed by left limb convulsions and consciousness loss. He regained consciousness after 1 minute, though cardiac arrest from ventricular fibrillation was noted during an electroencephalography (EEG) examination. Sinus rhythm recovered with defibrillation, though the convulsions persisted and a Status Epilepticus developed. The patient was diagnosed with Brugada syndrome and received implantable cardioverter defibrillator (ICD). After ICD, he has suffered no further convulsive attacks. Brugada syndrome is an inheritable cardiac disease causing sudden death by ventricular fibrillation. It is important to consider both epilepsy and arrhythmia in diagnosis of the seizures.

A 79 year-old female was admitted to our hospital because of high serum creatine kinase level together with proximal muscle weakness and pain on grasping. MRI revealed inflammatory changes in femoral muscles on both sides. Muscle biopsy showed size irregularity of muscle cells, and necrosis and regeneration of fibers. Study of antibodies was also consistent with the diagnostic criteria of anti-signal recognition particle (anti-SRP) antibody-positive myopathy. On admission, the patient required pericardiocentesis for the management of exudative pericarditis. Accompanying the aggravation of myositis, negative T wave in precordial leads on ECG, ventricular extrasystoles and non-sustained ventricular tachycardia were observed. These abnormalities were resolved with the improvement of myositis by immunosuppressive treatment. These observations suggest that the myopericarditis was associated with anti-SRP antibody-positive myopathy.

Many claim that they do not have enough neurologists in Japan, but supply and demand of neurologists remains to be analyzed. To investigate the recruitment for the Japanese Society of Neurology (JSN), the subcommittee of JSN for education performed a questionnaire-based survey in 80 medical universities and 271 board-certified education facilities throughout Japan. The response rate to the questionnaire was 77.5% in medical universities and 42.4% in education facilities. It was shown that each department of neurology in university recruits average 2.2 doctors, while they supposed that more than 4 doctors to be recruited every year. The questionnaire survey included what measures JSN should take in order to promote recruitment for JSN.