Search

A 40‐year‐old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2‐weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1‐weighted imaging showed a halo in the nigra. Because the patient's symptoms and history were similar to those of patients with neurodegeneration with brain iron accumulation, we ran an exome analysis to investigate neurodegeneration with brain iron accumulation‐associated genes. We identified a c.700 C>T (p.Arg 234*) mutation in exon 9 of the WDR45 gene, which had not been reported in Japanese patients with beta‐propeller protein‐associated neurodegeneration (a neurodegeneration with brain iron accumulation subtype). Sanger sequencing confirmed a heterozygous mutation in this patient that was absent in both her parents, so it was judged to be a de novo nonsense mutation.

Recent studies have revealed the clinical, histological, and pathophysiological characteristics in a group of inflammatory myopathies with selected autoantibodies. We retrospectively compared the clinical manifestations and histological features between 8 anti-mitochondrial (anti-M2) antibody-positive and 33 antibody-negative patients. Patients with anti-M2 antibodies have been previously reported to have delayed diagnostic confirmation and frequent cardiopulmonary complications in comparison to those without the antibodies. In our study, clinical characteristics in patients with the antibodies were as follows: lesser degree of limb muscle weakness and atrophy as well as lymphocytic infiltration in muscle biopsy specimens, and frequent paravertebral muscle atrophy. Anti-M2 antibody appeared to be a biomarker related to not only cardiopulmonary complications, but also characteristic ­distributions of affected muscles.

A 76-year-old female was referred to our department because of diplopia for two months and intermittent claudication for five months. She showed medial longitudinal fasciculus (MLF) syndrome. Brain MRI (T2WI) showed multiple infarctions in the right pontine tegmentum and left paramedian midbrain. A biopsy of superficial temporal artery showed the characteristic findings of glanulomatous inflammation indicative of giant cell arteritis. We thought the mechanism of this cerebral infarction as artery to artery embolization or intracranial arteritis. Treatment with oral prednisolone (1 mg/kg/day) improved her limb claudication and normalized serum C-reactive protein level.

Background Although the usefulness of susceptibility-weighted imaging (SWI) for detecting basal ganglia germinoma has been reported, the technique is not widely used. We recently encountered an unusual case of primary cerebellar germinoma, presenting with progressive ataxia and cranial nerve palsy, characterized by gradually enlarging low-intensity lesions visible with both T2*-weighted imaging (T2*WI), which were the key to the diagnosis. Case presentation A 30-year-old man was referred to our hospital because of slowly progressive dizziness and mild ataxia. Magnetic resonance imaging (MRI) revealed a small, low-intensity spot in the left cerebellar peduncle on the T2*WI and SWI without enhancement. Cerebral angiography revealed no vascular abnormality. The serum α-fetoprotein value was normal. A steroid-pulse was administered as a therapeutic and diagnostic trial, but the symptoms improved little. The patient was discharged from the hospital but soon developed brainstem dysfunction, characterized by dyspnea or hiccups, and he was readmitted. T2*WI imaging revealed expanded and extended spotty lesions in the cerebellum and brainstem, which had not enhanced with contrast agent previously. Targeted stereotactic biopsy of the newly enhanced cerebellar lesion was performed; histopathological examination of the tissue revealed pure germinoma. Serum and cerebral spinal fluid values of beta-human chorionic gonadotropin were not significantly elevated. Chemotherapy with carboplatin and etoposide was initiated. The enhanced lesion disappeared promptly, but the patient continued to require assisted automatic ventilation because of paralysis of respiratory muscles. Conclusions We conclude that enlarging low-intensity lesions on T2*WI and SWI may be a reliable clue to the diagnosis of germinomas, irrespective of their location, even without enhancement. Biopsy of the tumor at an early stage is the only way to make the diagnosis conclusively and enable prompt start of treatment. Electronic supplementary material The online version of this article (doi:10.1186/s12883-015-0516-9) contains supplementary material, which is available to authorized users.

Introduction Antimitochondrial antibodies are autoantibodies detected in 90% of primary biliary cirrhosis (PBC) patients. Some PBC cases are complicated by myositis, which is difficult to confirm due to minimal histological evidence of inflammation in limb muscles. Methods Our aim was to determine the extent of inflammatory changes in a truncal muscle biopsy specimen from a PBC patient. Results A 48-year-old woman with a 5-year history of atrial fibrillation and chronic heart failure was evaluated for elevated serum creatine kinase level. Antimitochondrial M2 antibodies were detected, and PBC was diagnosed. A biceps brachii biopsy specimen showed mild, non-specific myogenic changes; a second biopsy was performed on the rectus abdominis muscle, which showed typical inflammatory changes. Myositis with antimitochondrial M2 antibodies was confirmed. Conclusions In myositis patients with antimitochondrial M2 antibodies, muscles of the extremities are involved to a lesser extent. Radiological and histological examination focusing on truncal muscles, including a biopsy, is important. Muscle Nerve 47: 766–768, 2013

A 36-year-old female with systemic lupus erythematosus and antiphospholipid syndrome was referred to our department because of mild weakness of left arm and an episode of right amaurosis fugax for twenty days. Brain MRI showed right ACA/MCA/PCA border zone infarction on DWI/T2WI/FLAIR and MR angiography (MRA) showed multiple segmental stenosis in right internal carotid artery, right and left middle cerebral artery, and bilateral posterior cerebral arteries. Treatment with oral aspirin (100 mg/day) and continuous infusion of heparin kept her neurological symptoms and signs stable. MRA on 28 days revealed complete recovery of multiple stenotic lesions, thus, diagnosis of reversible cerebral vasoconstriction (RCVS) was made. RCVS should be considered as a cause of neurological deficit in patients with SLE regardless of thunderclap headache.

Objective: In Japan, MRI-based thrombolysis after CT screening is the most common imaging strategy prior to intravenous thrombolysis (IVT) with tissue plasminogen activator (tPA) within 3 h after ischemic stroke. A choice of MRI with MR angiography (MRA) provides a higher diagnostic accuracy, but may delay an initiation of thrombolysis. Methods: In our neuro-unit, brain CT is the first screening image for suspected stroke. We retrospectively examined a delay to thrombolysis, imaging modality, diagnostic accuracy, and clinical outcomes at 3 months by the modified Rankin Scale in patients receiving IVT within 3 h. Results: Among 67 patients receiving IVT with tPA, brain imaging prior to IVT was solely CT in 10 (15%) patients and CT + MRI/MRA in 57 (85%) patients. Final diagnosis of brain ischemia was 100%. Patients receiving CT + MRI had significantly shorter pre-hospital delay (mean 54 vs. 83 min; p = 0.012), but longer door-to-needle time (mean 90 vs. 57 min; p = 0.019) than those receiving CT only. Finally, time from onset to thrombolysis was not different between the two groups and clinical outcomes were also comparable. The earlier patients arrived, the longer door-to-needle times were (p < 0.001). Conclusions: The imaging strategy of initial CT screening with optional MRI/MRA scans prior to IVT was feasible. However, it resulted in an additional 30 min in-hospital delay of tPA administration, which may affect clinical outcomes.