Clinical Neurology最新文献

Beta-propeller protein-associated neurodegeneration (BPAN) encompasses a group of refractory neurodegenerative diseases that are caused by excessive iron deposition in the brain, especially in the basal ganglia. We reported a case of BPAN with a novel variant of the WDR45 gene at Xp11.23. Our patient was a 31-year-old woman who has had an intellectual disability since childhood. Approximately 3 years ago, she developed asymmetric parkinsonism affecting the distal right upper and lower limbs. Consistent with her neurological findings, dopamine transporter single-photon emission computed tomography demonstrated the differences between the left and right sides. She was diagnosed as BPAN according to genetic analysis, which showed a novel heterozygous variant (c.345-3C>G) in WDR45. To the best of our knowledge, only a few previous case reports on asymmetric BPAN have described the quantitative differences in neuroimaging parameters between the left and right sides. These neuroimaging features were similar to those of Parkinson's disease, among the other neurodegenerative diseases. Our report may provide clues to elucidate the pathological mechanism of BPAN which is a refractory neurodegenerative disease.

The patient was a 64-year-old woman who had been diagnosed with amyotrophic lateral sclerosis 8 years ago, and had been under artificial ventilation with tracheotomy for 6 years. Computed tomography indicated a dilated tracheal diameter of 29.6 ‍mm at the cuff, and a high cuff pressure of 80 ‍cmH₂O. An adjustable flange tracheostomy tube with an optional length setting was used to extend the effective length by 28 ‍mm. A previously evident air leak disappeared with the change in cuff level, and cuff pressure decreased to 25 ‍cmH₂O. X-ray images indicated a reduction in the size of the previous cuff area. Tracheal dilatation due to improper management of cuff pressure is a contributing factor to air leakage at the cuff area, and using an adjustable flange tracheostomy tube in an effort to resolve such air leaks is a valid option.

The patient was a 51-year-old man who had undergone living donor liver transplantation for type B cirrhosis at the age of 37 years, and had a history of immunosuppressive drug use. He had developed focal seizures starting from his right upper limb, and MRI showed a lesion in the subcortical white matter of his left parietal lobe. Sensory disturbance and paralysis progressed in his right upper and lower limbs, and his brain lesion rapidly enlarged. A brain biopsy revealed diffuse large B-cell lymphoma, and Epstein-Barr virus-encoded small RNA in situ hybridization was positive. The patient was diagnosed with primary central nervous system post-transplant lymphoproliferative disorder (PCNS-PTLD) with no lesions in other organs. There are few reports of PCNS-PTLD cases after living donor liver transplantation in Japan. Although rare, it is nevertheless important to consider this disease in patients receiving immunosuppressive drugs after organ transplantation who develop brain lesions, regardless of which organ was transplanted.

A 42-year-old Japanese man with a history hepatitis C who had undergone bone marrow transplantation for Burkitt lymphoma. He visited our hospital after developing a fever and sore throat. A computed tomography scan of the chest revealed pneumonia, and the patient was admitted to our hospital. After admission, he experienced a transient alteration of consciousness. Increased IL-6 levels in the cerebrospinal fluid and brain magnetic resonance imaging revealed clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). He received steroid pulse therapy and was discharged on the 14th hospital day. A neutralization test of paired serum revealed more than 4-fold increase in the adenovirus type 3 antibody titer, and a diagnosis of adenovirus-induced pneumonia was made. MERS was suspected to be involved in the pathology of encephalitis or encephalopathy following the adenovirus type 3 infection.

Meningeal carcinomatosis is known to cause a variety of symptoms. Here, we report a case of meningeal carcinomatosis due to lung cancer in which the patient developed short, frequently recurrent localized symptoms originating from the right midbrain. We considered a diagnosis of meningeal carcinomatosis based on a similar reported case. The underlying mechanisms of the symptoms are unknown, but we suspect that epileptic seizures of brainstem origin or hemiplegic migraine-like symptoms with brainstem symptoms are possible causes. While meningeal carcinomatosis can be challenging to diagnose, the characteristic symptoms in the present case may aid in its diagnosis in future.

The long-term outcomes of patients with stroke or transient ischemic attack (TIA) after widespread use of direct oral anticoagulants (DOACs) were investigated. Patients with ischemic stroke or TIA admitted between April 2014 and September 2015 were prospectively enrolled and followed for up to 5 years after the index stroke or TIA. Primary outcome measures were any cause of death and stroke recurrence. A total of 555 consecutive patients (323 men; mean age, 75 years; ischemic stroke, n = 520; TIA, n = 35) were analyzed. The follow-up rate was 93%, and the mean follow-up period was 48 ± 20 months. DOACs accounted for 52% of anticoagulants at discharge. During follow-up, 162 patients died, for cumulative mortality rates of 30% (particularly, 53% in cardioembolism) at 5 years. Recurrent stroke occurred in 90 patients, with cumulative risks of stroke recurrence of 19% at 5 years. The 5-year mortality rate remain even after widespread use of DOACs, and further treatment approaches are warranted.

Propriospinal myoclonus at sleep onset (PSM-S) is a sudden myoclonic jerk that occurs during the transition from wakefulness to sleep. It is a sleep-related movement disorder that causes difficulty falling asleep due to involuntary movements that spread caudally and rostrally through the propriospinal tract. Diagnosis requires observation of movements and polysomnography (PSG), and there are few reports. An 80-year-old man was referred to our center for insomnia due to abdominal movements at sleep onset. During the EEG test, we observed the caudal and rostral propagation of movements emanating from the abdomen. Attended video-PSG with additional surface electromyography revealed that myoclonic jerks occurred during the transition from wake to stage N1 and disappeared during sleep stage N2. EMG activity originated from the rectus abdominis muscle, followed by rostral and caudal propagation. Here, we report a case demonstrating that PSG with additional surface electromyography is important and useful for the diagnosis of PMS at sleep onset.

We present a case of a 53-year-old man who was admitted with lower back pain and bilateral lower limb weakness. Neurologically, he exhibited paralysis of both lower limbs, complete sensory loss below the 10th thoracic spinal level, and bladder and rectal dysfunction. Spinal MRI revealed intramedullary high-signal lesions extending from the 10th vertebral level to the conus medullaris on diffusion-weighted and T₂-weighted images. By the 10th day, the extensive intramedullary lesion had progressed to the 2nd vertebral level. Although aortic angiography on the 3rd day showed no vascular abnormalities, concurrent infarction of the paraspinal muscles at the 2nd lumbar vertebral level was confirmed. Based on the spinal vascular anatomy, it was deduced that both the spinal cord and the paraspinal muscle lesions had the same vascular etiology. Therefore, the spinal cord lesion was diagnosed early as spinal cord infarction. In cases of acute spinal symptoms, the coexistence of paraspinal muscle infarction observed on contrast-enhanced CT can assist in diagnosing spinal cord infarction.