Headache-Related Characteristics of Biopsy-Confirmed Giant Cell Arteritis and the Relationship of Transmural Inflammation With Artery Tenderness and Chordal Thickening.

INTRODUCTION: Giant cell arteritis (GCA) is characterized by headaches, but few studies have examined the detailed characteristics of pathologically confirmed cases. We investigated the characteristics of GCA patients, particularly headache, and their correlation with pathological findings. METHODS: We retrospectively analyzed 26 patients (median age: 77.5 years, male: 38.4%) with GCA who underwent superficial temporal artery (STA) biopsy at the Japanese Red Cross Shizuoka Hospital between May 2001 and February 2022. All patients fulfilled the American College of Rheumatology and European League Against Rheumatism classification criteria for GCA. We focused on the relationship between clinical features, especially headache, and pathological findings. RESULTS: Twenty-four patients had unilateral, nonpulsatile, intermittent headaches. Transmural inflammation (TMI), a characteristic pathology of GCA, was present in 14 patients. Bivariate analysis revealed significant associations between the TMI and STA-related tenderness (odds ratio [OR]=11, 95% confidence interval [CI]=1.14 to 106.43, p=0.046) and the TMI and STA-related chordal thickening (OR=0.19, 95% CI=0.068 to 0.52, p=0.021). CONCLUSIONS: Headache in GCA patients was often unilateral, nonpulsatile, and intermittent. This study highlights the significant association of TMI with STA tenderness and ligamentous thickening, which has not been reported previously. Abnormal STA findings were significantly associated with pathological changes in GCA patients, emphasizing the importance of these lesions in predicting GCA.

Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levels.

The identification of the m.4412G > A MT-TM (mt-tRNAMet) mutation was first reported in 2019. The affected individual presented with childhood-onset seizures and myopathy and bilateral basal ganglia changes, with heteroplasmy levels in muscle as high as 90%. Here, we describe another adult-onset patient with the same mutation and additional phenotypes, including hearing impairment, cerebellar ataxia, progressive dementia, and myopathy. The 10% heteroplasmy level observed in skin fibroblasts from this patient are lower than those in the previously reported patient. Our report suggests possible clinical heterogeneity in patients with mitochondrial tRNA mutations based on heteroplasmy levels.

Two distinct mechanisms of neuropathy in immunoglobulin light chain (AL) amyloidosis.

INTRODUCTION: Although polyneuropathy in patients with immunoglobulin light chain (AL) amyloidosis has been considered to be attributable to axonal degeneration resulting from amyloid deposition, patients with nerve conduction parameters indicating demyelination that mimics chronic inflammatory demyelinating polyneuropathy (CIDP) have also been reported anecdotally. METHODS: We evaluated the electrophysiological and pathological features of 8 consecutive patients with AL amyloidosis who were referred for sural nerve biopsy. RESULTS: Although findings of axonal neuropathy predominantly in the lower limbs were the cardinal feature, all patients showed one or more abnormalities of nerve conduction velocities or distal motor latencies. In particular, 2 of these patients fulfilled the definite electrophysiological for CIDP defined by the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS). On electron microscopic examination of sural nerve biopsy specimens, Schwann cells apposed to amyloid fibrils became atrophic in all patients, suggesting that amyloid deposits directly affect neighboring tissues. Additionally, detachment of the neurilemma from the outermost compacted myelin lamella was seen where amyloid fibrils were absent in 4 patients. Electrophysiological findings suggestive of demyelination were more conspicuous in these patients compared with the other patients. The detachment of the neurilemma from the outermost compacted myelin lamella was particularly conspicuous in patients who fulfilled the definite EFNS/PNS electrophysiological criteria for CIDP. CONCLUSION: Abnormalities of myelinated fibers unrelated to amyloid deposition may frequently occur in AL amyloidosis. Disjunction between myelin and the neurilemma may induce nerve conduction abnormalities suggestive of demyelination.

Increase of serum vascular endothelial growth factors in wet beriberi: two case reports.

Beriberi is a disease caused by thiamine deficiency resulting in peripheral neuropathy and myocardial dysfunction. Increases in vascular endothelial growth factor (VEGF) are seen in polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes, called POEMS syndrome. We present herein two cases of wet beriberi accompanied by a moderate increase in VEGF level. Serum VEGF decreased after treatment in both cases. Our experience with these cases suggests that beriberi should be considered in the differential diagnosis of polyneuropathy with a moderate increase in serum VEGF, and that the serum VEGF level may be a therapeutic marker for beriberi.

Clinical profile of cluster headaches in Japan: low prevalence of chronic cluster headache, and uncoupling of sense and behaviour of restlessness.

INTRODUCTION: This study examined the clinical profile of cluster headaches in Japan and the potential presence of features peculiar to Japan. Most previous studies of cluster headaches have focused on Caucasian populations. METHODS: Subjects comprised 86 consecutive new cluster headache patients (68 males, 18 females; mean age, 38.4 ± 12.2 years; range, 17-73 years). Mean age at onset was 31.0 years and the ratio of males to females was 3.8:1. RESULTS: Chronic cluster headache was observed in 3.5% of patients. More than half of patients (68.9%) reported feelings of restlessness during headache episodes and 42.9% reported restless behaviour. Patients with uncoupling of feelings of restlessness and restless behaviour forced themselves to keep still. Similar findings were reported in a Taiwanese study. CONCLUSION: Japanese patients in this study showed a relatively low prevalence of chronic cluster headaches, and uncoupling of a sense of restlessness and restless behaviour. These features of cluster headache may be more common in Japanese and Taiwanese patients than in Caucasian patients.

Ischemic stroke associated with cough and cold preparation containing methylephedrine and supplement containing Chinese herbal drugs.

Methylephedrine is generally harmless and is contained in many cough and cold preparations. Likewise, Chinese herbal drugs are considered to be effective and to have few side effects. A 32-year-old woman experienced ischemic stroke attributed to concomitant administration of a cough and cold preparation containing methylephedrine and a supplement containing Chinese herbal drugs. Computed tomography and magnetic resonance imaging of the brain showed acute infarctions bilaterally in the cerebellum. Conventional angiography and magnetic resonance angiography showed transient stenosis of the left vertebral artery. These findings suggested vasospasm or dissection, presumably related to hypertension and/or angiitis or vasoconstriction of large cerebral arteries leading to local thrombosis as a result of stasis and sympathomimetic-induced platelet activation. Combining methylephedrine and Chinese herbal drugs might carry a risk of stroke.

Relapse of polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome without increased level of vascular endothelial growth factor following successful autologous peripheral blood stem cell transplantation.

We report a patient with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome who experienced relapse after successful treatment with autologous peripheral blood stem cell transplantation (auto-PBSCT). Interestingly, although vascular endothelial growth factor (VEGF) levels were positively correlated with disease activity before and after auto-PBSCT, as expected, levels did not increase at the time of relapse. The patient was treated with doxorubicin, dexamethasone, and diuretics, followed by thalidomide, and remains clinically stable at one year after treatment. This case suggests that VEGF level may not always be indicative of relapse of POEMS syndrome, and that thalidomide is both useful and safe for patients with relapse following successful treatment with auto-PBSCT.

Legionnaires' disease with hypoperfusion in the cerebellum and frontal lobe on single photon emission computed tomography.

A 59-year-old man was admitted for further investigation of headache. Neurological examination revealed memory loss, disorientation, and bilateral intention tremor. Legionella pneumophila antigen was detected in the urine. Brain magnetic resonance diffusion-weighted images showed marked hyperintensity in the splenium of the corpus callosum without other abnormalities. Single photon emission CT with Tc-99m hexamethyl-propyleneamine oxime showed multi-focal hypoperfusion in the brain, involving mainly the cerebellum and frontal lobe. This is the first report demonstrating cerebellar and frontal lobe hypoperfusion without corresponding MRI abnormalities in a patient with central nervous system Legionnaires' disease.