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BACKGROUND: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a disease responsible for cognitive impairment in adult humans. It is caused by mutations in the colony stimulating factor 1 receptor gene (CSF1R) or alanyl-transfer (t) RNA synthetase 2 (AARS2) gene and affects brain white matter. Settlement of stages of the pathological brain lesions (Oyanagi et al. 2017) from the findings of brain imaging will be inevitably essential for prognostication. METHODS: MRI images of eight patients with ALSP were analyzed semiquantitatively. White matter degeneration was assessed on a scale of 0 to 4 (none, patchy, large patchy, confluent, and diffuse) at six anatomical points, and brain atrophy on a scale 0 to 4 (none, slight, mild, moderate, and severe) in four anatomical areas. The scores of the two assessments were then summed to give total MRI scores of 0-40 points. Based on the scores, the MRI features were classified as Grades (0-4). Regression analysis was applied to mutual association between mRS, white matter degeneration score, brain atrophy score, the total MRI score and disease duration. RESULTS: White matter degeneration score, brain atrophy score, and the total MRI score were significantly correlated with the disease duration. MRI Grades (2-4) based on the total MRI scores and the features of the images were well correlated with the pathological lesion stages (II - IV); i.e., 'large patchy' white matter degeneration in the frontal and parietal lobes (MRI Grade 2) corresponded to pathological Stage II, 'confluent' degeneration (Grade 3) to Stage III, and 'diffuse' degeneration (Grade 4) to Stage IV. CONCLUSION: MRI Grades (2-4) resulted from the total MRI scores were well correlated with the pathological lesion Stages (II - IV).
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Encéfalo , Leucoencefalopatias , Imageamento por Ressonância Magnética , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/patologia , Leucoencefalopatias/genética , Adulto , Substância Branca/patologia , Substância Branca/diagnóstico por imagem , Neuroglia/patologia , Idoso , Atrofia/patologiaRESUMO
In Japan, a significant number of adolescent females noted unusual symptoms after receiving the human papillomavirus (HPV) vaccination, of which the vast majority of them were initially diagnosed with psychiatric illnesses because of the absence of pathologic radiological images and specific abnormalities in laboratory test results. Later these symptoms were thought to be adverse effects of HPV vaccination. However, a causal link between HPV vaccination and the development of these symptoms has not been demonstrated. Between June 2013 and March 2021, we examined 200 patients who noted various symptoms after HPV vaccination. In total, 87 were diagnosed with HPV vaccination-related symptoms based on our proposed diagnostic criteria. The clinical histories of these 87 patients were analyzed. The age at initial vaccination ranged from 11 to 19 years old (mean ± SD: 13.5 ± 1.5 years old), and the age at the first appearance of symptoms ranged from 12 to 20 years old (mean ± SD: 14.3 ± 1.6 years old). The patients received an initial HPV vaccine injection between May 2010 and May 2013, but the first affected patient developed symptoms in October 2010, and the last affected developed symptoms in October 2015. A cluster of patients with a post-HPV vaccination disorder has not appeared in Japan during the last five years. Our study shows that, in Japan, the period of HPV vaccination considerably overlapped with that of a unique post-HPV vaccination disorder development. This disorder appears as a combination of orthostatic intolerance, chronic regional pain syndrome, and cognitive dysfunction, but its exact pathogenesis remains unclear.
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BACKGROUND: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an early onset dementia characterized by axonal loss in the cerebral white matter with swollen axons (spheroids). It had been reported that the preferential thinning and "focal lesions" of the corpus callosum were observed on T2-weighted MRI in ALSP patients. The present study aimed to reveal the pathologic basis of them in relation to brain lesion staging (I ~ IV: Oyanagi et al. 2017). METHODS: Seven autopsied brains of ALSP and five controls were neuropathologically examined. RESULTS: Even at Stage I, corpus callosum body showed evident atrophy, and the atrophy advanced with stage progression. Spheroid size and density were maximal at Stage II in both centrum semiovale and corpus callosum body, but spheroids were larger in corpus callosum body than in centrum semiovale. Microglia in the body at Stage II had a larger cytoplasm than those in centrum semiovale. But spheroids and microglia in the "focal lesions" were identical with those of centrum semiovale. CONCLUSION: Preferential thinning of corpus callosum was considered to be formed in relation to peculiar morphological alteration of microglia there in ALSP. Instead, "focal lesions" were formed in connection with the lesions in centrum semiovale.
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Background: Localized nodular deposits of AL amyloid are seen in different tissues/organs; however, the pathogenesis of this form of amyloidosis remains unclear. Recently, Sjögren syndrome combined with localized nodular AL amyloidosis has been noted. Here, we report Sjögren syndrome cases showing multifocal nodular AL amyloidosis and the followed benign course. Materials and methods: We investigated the clinical pictures and histopathological findings of three cases with both presence of Sjögren syndrome and localized nodular AL amyloidosis, paying a special attention to the distribution of amyloidoma. Results: All three cases were middle-aged females. In two of three cases localized deposits of AL amyloid preceded Sjögren syndrome. Amyloidoma was detected in scalp, eyelid, cheek, larynx, trachea, lung and breast, and around these amyloid-deposited lesions infiltration of plasma cells was seen. Pulmonary amyloidosis was consistently accompanied with parenchymal cystic lesions, but this amyloidosis did not produce any significant respiratory symptoms. Some of large pulmonary amyloidomas showed cavity formation and subsequent shrinkage. In two cases amyloid deposition was found on gastric mucosa. Two cases received small doses of oral prednisone, with no further appearance of amyloidoma. Conclusion: Sjögren syndrome-related plasma cell disorder may be responsible for the formation of this unique multifocal nodular AL amyloidosis.
Assuntos
Amiloidose/complicações , Granuloma de Células Plasmáticas/complicações , Pneumopatias/complicações , Plasmócitos/patologia , Síndrome de Sjogren/complicações , Adulto , Idoso , Amiloidose/diagnóstico por imagem , Amiloidose/patologia , Feminino , Granuloma de Células Plasmáticas/diagnóstico por imagem , Granuloma de Células Plasmáticas/patologia , Humanos , Pneumopatias/diagnóstico por imagem , Pneumopatias/patologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Síndrome de Sjogren/diagnóstico por imagem , Síndrome de Sjogren/patologia , Tomografia Computadorizada de EmissãoAssuntos
Neuropatias Amiloides Familiares/complicações , Benzoxazóis/uso terapêutico , Proteinúria/tratamento farmacológico , Idoso , Neuropatias Amiloides Familiares/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Pré-Albumina/genética , Proteinúria/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant white matter disease, typically characterized by juvenile cognitive decline and frontoparietal white matter lesions. A portion of HDLS patients exhibit preferential motor dysfunctions as their initial symptoms, mimicking multiple sclerosis (MS). However, there is no study comparing this phenotype of HDLS and primary progressive multiple sclerosis (PPMS), which greatly resemble each other. This is the first preliminary study to clarify the clinical and neuroimaging features of motor-predominant HDLS, and compare it with PPMS, using cases whose colony stimulating factor 1 receptor (CSF1R) were sequenced. METHODS: Clinical and radiological data from Japanese patients at the Department of Neurology, Kyushu University Hospital, Fukuoka, Japan, were evaluated retrospectively and cross-sectionally. Twenty-nine brain and 18 spinal cord magnetic resonance imaging (MRI) scans from four motor-predominant HDLS patients with CSF1R mutations and 15 PPMS patients without CSF1R mutations, were evaluated using an HDLS MRI scoring system. RESULTS: Two patients with HDLS were initially diagnosed with MS and received immunotherapy. Clinically, motor-predominant HDLS and PPMS patients resembled each other in onset age and disability. However, motor-predominant HDLS patients had a significantly higher frequency of frontal release signs, lower positivity rates of oligoclonal IgG bands (OCB), and lower IgG index values. Total HDLS MRI scores, total white matter lesions (WMLs), and brain atrophy were similar between the diseases. However, motor-predominant HDLS patients had more marked atrophy of the corpus callosum (CC) body, more WMLs in the deep and subcortical regions of the frontoparietal lobes, fewer WMLs in the occipitotemporal periventricular regions, and more restricted diffusivity lesions on MRI than PPMS patients. There was a stronger association between disease duration and CC index in HDLS, suggesting more rapid progression compared with PPMS. CONCLUSIONS: Motor-predominant HDLS has characteristic frequent frontal release signs, normal findings for OCB and the IgG index, severe CC body atrophy, abundant deep and subcortical WMLs in the frontoparietal lobes, subtle occipitotemporal lobe periventricular WMLs, and more restricted diffusivity lesions on MRI. Although the present study was limited by the small number of HDLS cases, we propose that immunotherapy should be avoided in such cases.
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Encéfalo/patologia , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/patologia , Esclerose Múltipla Crônica Progressiva/diagnóstico , Esclerose Múltipla Crônica Progressiva/patologia , Adulto , Atrofia , Encéfalo/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Transversais , Feminino , Humanos , Estudos Retrospectivos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologiaRESUMO
A 36-year-old woman visited a local hospital suffering from acute onset dizziness. Brain MRI revealed multiple white matter lesions without gadolinium enhancement in the both hemispheres. Although she began to receive a treatment under a clinical diagnosis of multiple sclerosis, she developed newly emerging brain lesions and was referred to our hospital. Neurological examination detected intention tremor, right-sided dysdiadochokinesis, and gait ataxia. Both blood and cerebrospinal fluid tests were unremarkable but follow-up brain MRIs showed rapidly relapsing and remitting lesions. The first brain biopsy ended up showing non-specific changes but the second biopsy with five months interval confirmed primary central nervous system lymphoma (PCNSL). The patient was treated by chemotherapy and showed partial response. It is important to consider sequential brain biopsies if needed because PCNSL may present diverse brain lesions on MRI including non-neoplastic early lesions.
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Biópsia , Encéfalo/patologia , Neoplasias do Sistema Nervoso Central/diagnóstico , Neoplasias do Sistema Nervoso Central/patologia , Linfoma/diagnóstico , Linfoma/patologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/tratamento farmacológico , Feminino , Humanos , Linfoma/diagnóstico por imagem , Linfoma/tratamento farmacológico , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia , Regressão Neoplásica Espontânea , Transplante de Células-Tronco de Sangue Periférico , Indução de Remissão , Resultado do TratamentoRESUMO
In Japan, a significant number of adolescent girls complained unusual symptoms after human papillomavirus (HPV) vaccination, and the vast majority of them were initially diagnosed as having psychiatric illness because of the absence of pathologic findings, radiological images and specific abnormalities in laboratory test results. Later, these symptoms were supposed to be adverse effects after HPV vaccination, and the recommendation for HPV vaccination was withdrawn by Japanese Ministry of Public Health, Labour and Welfare 4 years and 9 months ago. However, a causal link has not been demonstrated between HPV vaccination and the development of these symptoms. Our study has shown that the period of HPV vaccination considerably overlapped with that of unique postvaccination symptom development, adding that new patients with possible HPV vaccine-related symptoms have not appeared during our recent 28-month follow-up period. This social episode has now subsided in Japan.
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Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Papillomaviridae/imunologia , Vacinas contra Papillomavirus/efeitos adversos , Vacinação/efeitos adversos , Sistemas de Notificação de Reações Adversas a Medicamentos , Humanos , JapãoRESUMO
Guillain-Barré syndrome (GBS) is an acute monophasic neuropathy. Prognostic tools include the modified Erasmus GBS outcome score (mEGOS), Erasmus GBS respiratory insufficiency score (EGRIS), and the increase in serum IgG levels (ΔIgG) 2 weeks after intravenous immunoglobulin (IVIg) treatment. Given that proportions of GBS subtypes differ between Western countries and Japan, the usefulness of these tools in Japan or other countries remains unknown. We enrolled 177 Japanese patients with GBS from 15 university hospitals and retrospectively obtained mEGOS and EGRIS for all and ΔIgG status for 79 of them. High mEGOS scores on admission or on day 7 were significantly associated with poorer outcomes (unable to walk independently at 6 months). High EGRIS scores (≥5 points) were associated with an increased risk for mechanical ventilation. Patients with ΔIgG <1,108 mg/dl had significantly poorer outcomes. We suggest that mEGOS, EGRIS, and ΔIgG in GBS are clinically relevant in Japan.
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Síndrome de Guillain-Barré/diagnóstico , Imunoglobulina G/sangue , Limitação da Mobilidade , Avaliação de Resultados em Cuidados de Saúde , Respiração Artificial , Índice de Gravidade de Doença , Adulto , Feminino , Seguimentos , Síndrome de Guillain-Barré/sangue , Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Guillain-Barré/terapia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Admissão do Paciente , Prognóstico , Estudos RetrospectivosRESUMO
We herein report the case of a 44-year-old woman who developed protein-losing gastroenteropathy (PLGE) with hypoalbuminemia as the first manifestation of mixed connective tissue disease (MCTD). Albumin leakage from the stomach and intestinal tract was demonstrated by 99mTc-labeled human serum albumin scintigraphy. The patient's response to prednisolone therapy was insufficient; therefore, additional cyclosporin A (CsA) treatment was administered, and clinical remission was achieved. We concluded that although PLGE is a rare complication of MCTD, it may manifest as an initial clinical episode of MCTD. Furthermore, CsA can be a useful treatment option for refractory PLGE related to MCTD.
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Doença Mista do Tecido Conjuntivo/complicações , Enteropatias Perdedoras de Proteínas/etiologia , Adulto , Ciclosporina/uso terapêutico , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Humanos , Hipoalbuminemia/diagnóstico por imagem , Hipoalbuminemia/etiologia , Imunossupressores/uso terapêutico , Doença Mista do Tecido Conjuntivo/diagnóstico por imagem , Doença Mista do Tecido Conjuntivo/tratamento farmacológico , Prednisolona/uso terapêutico , Enteropatias Perdedoras de Proteínas/diagnóstico por imagem , Cintilografia , Agregado de Albumina Marcado com Tecnécio Tc 99mRESUMO
INTRODUCTION: In Japan, after receiving human papillomavirus vaccination, a significant number of adolescent girls experienced various symptoms, the vast majority of which have been ascribed to chronic regional pain syndrome, orthostatic intolerance, and/or cognitive dysfunction. However, a causal link has not been established between human papillomavirus vaccination and the development of these symptoms. OBJECTIVE: The aim of this study was to clarify the temporal relationship between human papillomavirus vaccination and the appearance of post-vaccination symptoms. METHODS: Between June 2013 and December 2016, we examined symptoms and objective findings in 163 female patients who had received human papillomavirus vaccination. We used newly defined diagnostic criteria for accurate inclusion of patients who experienced adverse symptoms after human papillomavirus vaccination; these diagnostic criteria were created for this study, and thus their validity and reliability have not been established. RESULTS: Overall, 43 female patients were excluded. Among the remaining 120 patients, 30 were diagnosed as having definite vaccine-related symptoms, and 42 were diagnosed as probable. Among these 72 patients, the age at initial vaccination ranged from 11 to 19 years (average 13.6 ± 1.6 years), and the age at appearance of symptoms ranged from 12 to 20 years (average 14.4 ± 1.7 years). The patients received the initial human papillomavirus vaccine injection between May 2010 and April 2013. The first affected girl developed symptoms in October 2010, and the last two affected girls developed symptoms in October 2015. The time to onset after the first vaccine dose ranged from 1 to 1532 days (average 319.7 ± 349.3 days). CONCLUSIONS: The period of human papillomavirus vaccination considerably overlapped with that of unique post-vaccination symptom development. Based on these sequential events, it is suggested that human papillomavirus vaccination is related to the transiently high prevalence of the previously mentioned symptoms including chronic regional pain syndrome and autonomic and cognitive dysfunctions in the vaccinated patients.
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Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Vacinas contra Papillomavirus/efeitos adversos , Adolescente , Sistemas de Notificação de Reações Adversas a Medicamentos , Criança , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Feminino , Humanos , Japão/epidemiologia , Infecções por Papillomavirus/prevenção & controle , Prevalência , Análise Espaço-Temporal , Neoplasias do Colo do Útero/prevenção & controle , Vacinação/efeitos adversos , Adulto JovemAssuntos
Amiloide/genética , Cadeias Leves de Imunoglobulina/genética , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Adolescente , Criança , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico por imagem , Amiloidose de Cadeia Leve de Imunoglobulina/genética , Amiloidose de Cadeia Leve de Imunoglobulina/fisiopatologia , MasculinoRESUMO
The current standard diagnostic approach for progressive multifocal leukoencephalopathy (PML) is to perform a DNA test to identify the presence of the JC virus in cerebrospinal fluid (CSF). A 32-year-old woman with a 5-year history of systemic lupus erythematosus developed right hemiplegia and motor aphasia. MRI revealed a large white matter lesion in the left frontal lobe. JC virus DNA was undetectable in the CSF, but a brain biopsy showed typical histopathology and a high DNA load of the JC virus. The patient was treated with mefloquine and mirtazapine, and is currently alive at 24 months after onset. An early brain biopsy may therefore be important for making a timely diagnosis of PML.
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Biópsia , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , DNA Viral/líquido cefalorraquidiano , Vírus JC/genética , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Antagonistas Adrenérgicos alfa/uso terapêutico , Adulto , Antimaláricos/uso terapêutico , Feminino , Humanos , Imageamento por Ressonância Magnética , Mefloquina/uso terapêutico , Mianserina/análogos & derivados , Mianserina/uso terapêutico , Mirtazapina , Reprodutibilidade dos Testes , Resultado do TratamentoRESUMO
Mycobacterium abscessus infection tends to occur in patients with an advanced immunocompromised status. We encountered a case of intractable cutaneous M. abscessus infection that developed in a patient with systemic lupus erythematosus (SLE) during maintenance therapy. A 28-year-old woman developed a fever and redness of the skin on her buttocks. General antibacterial therapy was ineffective, and acid-fast bacteria were detected in the biopsy that was conducted to differentiate the dermal symptoms of SLE. The clinical findings eventually improved; however, the symptoms recurred multiple times during treatment. Despite recent advances in SLE treatment, M. abscessus infection remains a considerable complication of SLE.
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Antibacterianos/uso terapêutico , Claritromicina/uso terapêutico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Infecções por Mycobacterium não Tuberculosas/etiologia , Micobactérias não Tuberculosas/efeitos dos fármacos , Adulto , Feminino , Humanos , Hospedeiro Imunocomprometido/efeitos dos fármacos , Infecções por Mycobacterium não Tuberculosas/microbiologia , Resultado do TratamentoRESUMO
BACKGROUND: It is quite difficult to evaluate ataxic gait quantitatively in clinical practice. The aim of this study was to analyze the characteristics of ataxic gait using a triaxial accelerometer and to develop a novel biomarker of integrated gate parameters for ataxic gait. METHODS: Sixty-one patients with spinocerebellar ataxia (SCA) or multiple system atrophy with predominant cerebellar ataxia (MSA-C) and 57 healthy control subjects were enrolled. The subjects were instructed to walk 10 m for a total of 12 times on a flat floor at their usual walking speed with a triaxial accelerometer attached to their back. Gait velocity, cadence, step length, step regularity, step symmetry, and degree of body sway were evaluated. Principal component analysis (PCA) was used to analyze the multivariate gait parameters. The Scale for the Assessment and Rating of Ataxia (SARA) was evaluated on the same day of the 10-m walk trial. RESULTS: PCA divided the gait parameters into four principal components in the controls and into two principal components in the patients. The four principal components in the controls were similar to those found in earlier studies. The second principal component in the patients had relevant factor loading values for gait velocity, step length, regularity, and symmetry in addition to the degree of body sway in the medio-lateral direction. The second principal component score (PCS) in the patients was significantly correlated with disease duration and the SARA score of gait (ρ = -0.363, p = 0.004; ρ = -0.574, p < 0.001, respectively). CONCLUSIONS: PCA revealed the main component of ataxic gait. The PCS of the main component was significantly different between the patients and controls, and it was well correlated with disease duration and the SARA score of gait in the patients. We propose that this score provides a novel method to assess the severity of ataxic gait quantitatively using a triaxial accelerometer.
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Acelerometria/métodos , Acelerometria/estatística & dados numéricos , Ataxia/fisiopatologia , Transtornos Neurológicos da Marcha/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Marcha , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/fisiopatologia , Atrofia de Múltiplos Sistemas/reabilitação , Análise de Componente Principal , Ataxias Espinocerebelares/fisiopatologia , Ataxias Espinocerebelares/reabilitação , CaminhadaAssuntos
Neuropatias Amiloides Familiares/metabolismo , Neuropatias Amiloides Familiares/patologia , Adulto , Idoso , Benzoxazóis/farmacologia , Sobrevivência Celular/efeitos dos fármacos , Sobrevivência Celular/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Plasma/citologiaRESUMO
Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis. One 65-year-old female patient had a known GLA gene mutation, c.2T>C (p.M1T), causing Fabry disease. Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease. The allele frequency of GLA c.196G>C was significantly higher in male patients with small-vessel occlusion (odds ratio 3.95, P=0.048) and non-cardioembolism (odds ratio 4.08, P=0.012) than that in the general Japanese population. Fabry disease is rare in the general Japanese stroke population. However, screening identified one elderly female patient with Fabry disease. GLA c.196G>C variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in Japanese males but not in females.
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Povo Asiático/genética , Doença de Fabry/enzimologia , Doença de Fabry/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Acidente Vascular Cerebral/complicações , alfa-Galactosidase/genética , Idoso , Demografia , Ensaios Enzimáticos , Doença de Fabry/complicações , Doença de Fabry/genética , Feminino , Frequência do Gene/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Linhagem , PrevalênciaRESUMO
AIM: To elucidate the characteristics of patients with hypertrophic pachymeningitis (HP) in a population with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). METHODS: We retrospectively investigated the clinical records of 39 patients who were diagnosed with AAV. To determine the characteristics of HP in AAV, the epidemiological and clinical data from patients with HP were statistically compared with those from patients without HP. RESULTS: Of 39 patients with AAV, seven (17.9%) had associated HP. All patients with HP were classified as having granulomatosis with polyangiitis (GPA), whereas only five of 32 patients without HP were diagnosed as having GPA (P < 0.0001). The frequencies of myeloperoxidase (MPO)-ANCA and proteinase 3-ANCA positivity in patients with HP were equivalent, while MPO-ANCA positivity was obviously dominant in patients without HP. HP occurred as the initial clinical episode of AAV in three patients (7.7% of all AAV). Frequent significant characteristics of patients with HP were headache, cranial neuropathy and paranasal involvement (P < 0.05), and histopathological findings from paranasal involvement were useful for the diagnosis of GPA in some patients with HP. Combination therapy of corticosteroid and an immunosuppressant, such as methotrexate, cyclophosphamide or rituximab, was effective for achieving remission and improving radiographic findings of HP. CONCLUSION: AAV is a common cause of HP; epidemiological features of AAV patients with HP are different from those of patients without HP. Additionally, HP impacts diagnosis because it may be an initial clinical sign of AAV.