Since the discovery of spinocerebellar ataxia type 31 (SCA31) gene, we identified 6 patients whose SCA type had been unkown for a long period of time as having SCA31 in our hospital and realized that SCA31 is not a rare type of autosomal dominant spinocerebellar ataxia in this region. We examined and compared the clinical details of these six SCA31 patients and the same number of SCA6 patients, finding that some SCA31 patients had hearing loss in common while there are more wide range and complicated signs of extra cerebellum in SCA6 such as pyramidal signs, extrapyramidal signs, dizzy sensations or psychotic, mental problems. There is a significant difference in the number of extracerebellar symptoms between SCA31 and SCA6. There are differences also in MRI findings. Cerebellar atrophy starts from the upper vermis in SCA31, as well as some SCA types, whereas the 4th ventricule becomes enlarged in SCA6 even in the early stage of disease. We suggest that these differences in clinical and MRI findings can be clues for accurate diagnosis before gene analysis.

View full abstract

Transient neurological attacks (TNAs) are attacks with temporary (< 24 h) neurological symptoms, and reported in 1975. Ischemic cerebral infarction often occurres after transient neurological symptoms which are not sometimes involved in transient ischemic attack (TIA) criteria. The purpose of this study was to clarity transient neurological symptoms before the onset of ischemic stroke. Consecutive acute stroke and TIA patients within 7 days of onset between July 2011 and December 2012 were studied. Questionnaire survey of transient neurological symptoms was done and we investigated the history of transient neurological symptoms and divided the patients into three groups, TIA group (history of TIA), TNAs group (history of TNAs), and no past history group. We compared clinical characteristics, the rate of posterior circulation lesions, and number of attacks among three groups. 184 patients (male 112 patients, mean 73 years old) were enrolled into the present study. TNAs group had 13 (7%) patients, and TIA had 20 (11%). Neurological symptoms of TNAs group were 5 (38%) transient dizziness, 3 (23%) disturbance of consciousness, 2 (23%) weakness of legs, 1 (8%) sensory disturbance of legs, 1 (8%) gait disturbance, and 1 (8%) sensory disturbance of lips. Five (38%) TNAs group had multiple attacks. In 33 transient neurological symptom patients, 17 (52%) patients did not have hospital visit, and 7 (21%) patient did not have antiplatelet and anticoagulant drug. TNAs group more frequently had hyperlipidemia, diabetes mellitus, and posterior circulation lesions among three groups. 20% posterior circulation lesion patients had TNAs history, and posterior circulation might be examined in TNAs patients.

View full abstract

A 60-year-old man was admitted to our hospital complaining of fever, headache and vertigo. Neurological examination on admission showed mild ataxic gait. Brain magnetic resonance imaging showed linear high intensity in the left parietal lobe on diffusion-weighted imaging (DWI) and laboratory data revealed elevated serum lactate dehydrogenase and soluble interleukin-2 receptor. Although intravascular lymphoma was suspected from these findings, bone marrow and skin biopsies were negative. Two months later, he presented with sensory disturbance of the left upper limb, and new lesions in the right frontal and bilateral parietal lobes were detected on DWI. A systemic evaluation showed multiple low-density lesions in the bilateral kidneys on computed tomography. Based on the results of a renal biopsy, we made a histological diagnosis of intravascular large B-cell lymphoma (IVLBCL). As IVLBCL is quite rare and often has a poor prognosis, a systemic evaluation to determine the proper biopsy site is needed for early diagnosis.

View full abstract

The patient was a 53-year-old male. He showed steppage gait at the age of 11 and equinus foot at 13. He walked unaided with shoe-insoles to support his heels. Atrial fibrillation and cardiac hypertrophy were found in his 30s, and ventricular tachycardia (VT) was observed at the age of 48. Electrophysiological studies were performed, but VT was not sustained, symptomatic, or showed signs of infra-Hisian block, and a pacemaker was not indicated. At 53, he was introduced to a neurologist because of tetraplegia after the first episode of syncope. A spinal MR showed ossification of posterior longitudinal ligament (OPLL) and central cervical cord injury. Furthermore, he presented not only contracture in his shoulder, elbow, and ankles but also atrophy in his scapulohumeral and gastrocnemius muscles. In accordance with a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD), provocative testing of VT was carried out, and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted. Later, a mutation analysis of the LMNA gene disclosed a known missense mutation of p.Arg377His, and we diagnosed him as EDMD2 (laminopathy). Contractures could be the clue to diagnose EDMD and indicate the need for pacemakers and defibrillators in patients with cardiac conduction disorders.

View full abstract

We report two cases of cerebral venous thrombosis as a complication of nephrotic syndrome. No urine protein or kidney disease was noted in either case. The patients were diagnosed with nephrotic syndrome after admission to our hospital. Case 1: The patient was a 46-year-old man. He experienced headache and vomiting the day after he drank heavily. Contrast brain computed tomography (CT) and magnetic resonance imaging (MRI) revealed a defect in the transverse sinus, straight sinus, and superior sagittal sinus. His blood was hemo-concentrated, and blood test results indicated high D-dimer and fibrinogen levels and decrease of antithrombin III. Case 2: The patient was an 89-year-old woman. After the diarrhea lasted suffering from ischemic colitis, she developed left hemiplegia and headache. Brain CT revealed hematoma in the subcortical region of the right frontal lobe and a high signal in the straight sinus. The superior sagittal sinus showed high-signal intensity on T₁-weighted MRI and mild high-signal intensity on T₂-weighted MRI. High fibrinogen levels were detected in the blood. Patients with nephrotic syndrome have a thrombotic tendency; both venous thrombosis and arterial thrombosis may occur. In the literature, the number of published cases of cerebral venous thrombosis was 10-fold that of cerebral artery thrombosis as a complication of nephrotic syndrome in individuals aged <20 years. In adults, however, the number of cerebral venous thrombosis was 2-fold that of cerebral artery thrombosis cases were reported. Nephrotic syndrome shows a thrombotic tendency, but cerebral venous thrombosis may develop as a result of another thrombotic factor. Management of life along with the conventional treatment of nephrotic syndrome is important.

View full abstract

A 48-year-old woman with no previous neurological diseases was transferred to our hospital because of sudden-onset unconsciousness. On arrival, she showed consciousness disturbance (E1V1M3 on the Glasgow Coma Scale), tetraplegia, right conjugate deviation and bilateral pathological reflexes. These symptoms resulted in a NIH stroke scale score of 32. Brain diffusion-weighted MR imaging (DWI) showed multiple hyper-intense lesions, and MR angiography revealed occlusions of the basilar artery (BA) and superior branch of the right middle cerebral artery (MCA). Transthoracic echocardiography disclosed a 51 × 24 mm myxoma in the left atrium. These findings led to diagnosis of acute ischemic stroke due to embolization from cardiac myxoma. Thrombolytic therapy with intravenous tissue plasminogen activator (IV tPA) was started 120 min after onset because there were no contraindications for this treatment. However, the symptoms did not resolve, and thus endovascular therapy was performed immediately after IV tPA. Angiography of the left vertebral artery initially showed BA occlusion, but a repeated angiogram resulted in spontaneous recanalization of the BA. However, the left posterior cerebral artery remained occluded by a residual embolus. Subsequently, occlusion found in the superior branch of the right MCA was treated by intra-arterial local thrombolysis using urokinase and thrombectomy with a foreign body retrieval device, but the MCA remained occluded. DWI after endovascular therapy showed new hyper-intense lesions in the bilateral medial thalamus and left occipital cortex. Clinically, neurological status did not improve, with a score of 5 on the modified Rankin Scale. IV tPA can be used for stroke due to cardiac myxoma, but development of brain aneurysms and metastases caused by myxoma is a concern. Given the difficulty of predicting an embolus composite from a thrombus or tumor particle, aspiration thrombectomy may be safer and more effective for stroke due to cardiac myxoma to avoid delayed formation of brain aneurysms and metastases.

View full abstract

A 42 years-old male noticed alopecia in 2006. Three years later, he had loss of hair in the whole body and weakness in the left upper limb. Prednisolone treatment failed to alleviate these symptoms. In 2011, he was diagnosed multifocal acquired demyelinating sensory and motor neuropathy and treated by intravenous immunoglobulin (IVIg), which improved muscle strength eventually. Three years later, he had remitting weakness of the limbs, and thus underwent again IVIg with amelioration of both alopecia and weakness in the limbs. Association of multifocal acquired demyelinating sensory and motor neuropathy and alopecia, and their improvement by immunomodulatory treatment strongly suggest a role of immunological pathomechanism.

View full abstract

A 62-year-old man complained of resting tremor and posture tremor. In spite of presence of the tremor, other parkinsonian component was very mild. [¹¹C]2β-carbomethoxy-3β-(4-fluorophenyl)-tropane ([¹¹C]CFT) PET showed asymmetrical reduction of the uptake and [¹¹C]raclopride PET showed slightly increased uptake in the striatum. Although he was diagnosed as having benign tremulous parkinsonism (BTP), anti-parkinsonian medications, including anti-cholinergic agent, dopamine agonist and l-dopa, were not effective for his tremor. His tremor gradually deteriorated enough to disturb writing, working, and eating. Because his quality of life (QOL) was disturbed by the troublesome tremor, deep brain stimulation of the subthalamic nucleus (STN-DBS) was performed. After STN-DBS, his tremor was dramatically improved. According to clinical course of our patient as well as previous reports, STN-DBS should be considered as a therapeutic option for BTP patients with severe tremor.

View full abstract

Pure trigeminal motor neuropathy is a rare clinical manifestation, and its etiology remains obscure. Here, we report the case of a 67-year-old woman who presented with jaw deviation to the right. Neurological examination revealed atrophy of the right temporal and masseter muscles and jaw deviation to the right. Absence of other cranial nerve abnormalities, such as loss of sensation in the trigeminal nerve territory, suggested involvement of only the motor component of the right mandibular nerve. Results of laboratory tests, including hematologic, serologic, and biochemical analysis, were unremarkable, except for the finding of lymphocytic pleocytosis in the cerebrospinal fluid on symptom onset. Brain MRI revealed no abnormality in the brainstem or trigeminal nerve. Electromyography indicated chronic denervation in the right temporal muscle. A few days before the occurrence of the neurological signs, the patient had experienced flu-like symptoms; this suggests that post-infection neuropathy may be a possible cause of the right motor trigeminal neuropathy observed in our case.

View full abstract

A 36-year-old woman with a 4 year history of lower legs edema, hypermenorrhea and melena without medical treatment was admitted to our hospital. At 18 days before admission, anasarca and general fatigue appeared and she was admitted to another hospital. Her hemoglobin concentration was 1.4 g/dl and chest X-ray showed cardiomegaly. Heart failure with severe chronic anemia was diagnosed, and blood transfusion was performed. Her hemoglobin concentration increased to 10 g/dl and the anasarca disappeared. The day after discharge, she was referred to our hospital with generalized convulsion. We diagnosed posterior reversible encephalopathy syndrome (PRES) from the typical MRI imaging. We started treatment and her consciousness recovered steadily. At a week after admission, left hemiparesis appeared. Her brain imaging revealed multiple intracranial hemorrhages. In addition, her visual disturbance revealed vitamin A and vitamin K deficiency. PRES sometimes occur secondary to blood transfusion, but secondary brain hemorrhage is rare. Her fat-soluble vitamin deficiency, which resulted from a peculiar eating habit, may have contributed to the brain hemorrhage.

View full abstract

[in Japanese]

View full abstract