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1.
Rinsho Shinkeigaku ; 64(6): 413-416, 2024 Jun 27.
Artículo en Japonés | MEDLINE | ID: mdl-38797686

RESUMEN

A 54-year-old man with a university degree was admitted to our hospital because of a two-year history of progressive dementia. He had familial sensorineural hearing loss and had been treated for epilepsy since his 30s. On admission, he showed severe dementia and parkinsonism without fever or skin rash. Systemic inflammation was evident, and the CSF cell count and IL-6 level were elevated to 53/µl and 307 |pg/ml, respectively. Brain MRI demonstrated diffuse brain atrophy. More detailed anamnesis revealed a history of rheumatoid arthritis in childhood and aseptic meningitis in his 20s. Genetic examination for autoinflammatory diseases demonstrated compound heterozygotic mutations in the NLRP3 gene, causing cryopyrin-associated periodic fever syndrome (CAPS). This case was atypical CAPS presenting as early-onset progressive dementia, without recurrent fever or urticaria-like eruption which are usually seen in this disease.


Asunto(s)
Síndromes Periódicos Asociados a Criopirina , Demencia , Mutación , Proteína con Dominio Pirina 3 de la Familia NLR , Humanos , Síndromes Periódicos Asociados a Criopirina/diagnóstico , Síndromes Periódicos Asociados a Criopirina/complicaciones , Masculino , Proteína con Dominio Pirina 3 de la Familia NLR/genética , Persona de Mediana Edad , Demencia/etiología , Demencia/diagnóstico , Exantema/etiología , Fiebre/etiología , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Diagnóstico Diferencial , Heterocigoto , Biomarcadores/líquido cefalorraquídeo , Biomarcadores/sangre , Progresión de la Enfermedad
2.
Rinsho Shinkeigaku ; 64(6): 417-421, 2024 Jun 27.
Artículo en Japonés | MEDLINE | ID: mdl-38797685

RESUMEN

A 23-year-old man was admitted to our hospital with a one-year history of muscle weakness and atrophy. He had noticed contractures of the fingers of both hands from the age of 18. Examination revealed a skin rash including heliotrope rash and Gottron's sign, joint contractures in the extremities, dysphagia, extensive muscle weakness and marked muscle atrophy. The serum creatine kinase level was 272 |IU/l and muscle biopsy showed typical perifascicular atrophy but little lymphocyte invasion. There was no interstitial pneumonia or malignancy, but muscle tendons showed elevated CT values suggesting calcification or fibrosis. Anti-nuclear matrix protein 2 (NXP-2) antibody-positive dermatomyositis was diagnosed on the basis of the serum antibody level. Methylprednisolone pulse therapy ameliorated the skin rash and bulbar palsy, but muscle weakness, atrophy and joint contractures were resistant to the treatment. There have been no previous reports of young adults with anti-NXP-2 antibody-positive dermatomyositis in whom joint contracture became evident as early as 4 years beforehand, which is a important feature for differential diagnosis of dermatomyositis.


Asunto(s)
Autoanticuerpos , Biomarcadores , Contractura , Dermatomiositis , Quimioterapia por Pulso , Humanos , Masculino , Adulto Joven , Adenosina Trifosfatasas , Autoanticuerpos/sangre , Biomarcadores/sangre , Contractura/etiología , Contractura/diagnóstico , Dermatomiositis/complicaciones , Dermatomiositis/inmunología , Dermatomiositis/diagnóstico , Dermatomiositis/tratamiento farmacológico , Diagnóstico Diferencial , Proteínas de Unión al ADN , Metilprednisolona/administración & dosificación , Proteínas Nucleares/inmunología , Proteínas de Unión al ARN/inmunología , Factores de Transcripción
3.
Rinsho Shinkeigaku ; 63(10): 672-675, 2023 Oct 25.
Artículo en Japonés | MEDLINE | ID: mdl-37779020

RESUMEN

A 57-year-old woman, who had been taking azathioprine (AZP) for systemic sclerosis and interstitial pneumonia over 16 years, presented with right hemiparesis and paresthesia. On admission, brain MRI diffusion-weighted imaging (DWI) demonstrated high-signal-intensity lesions in the right frontal lobe. Although the symptoms had disappeared quickly, brain MRI on the 7th day revealed that these lesions had spread to the left cerebellar hemisphere and the right fronto-parietal lobes, appearing as high signal intensity lesions on ADC map. On the basis of the MRI imaging and clinical courses, posterior reversible encephalopathy syndrome (PRES) caused by AZP was suspected, and brain MRI revealed the immediate improvement of the lesions after the AZP discontinuation. There have been a few reports of PRES caused by AZP, all of which occurred within one month after administration. It is noteworthy in considering differential diagnosis that PRES can also occur during long-term administration of AZP.


Asunto(s)
Síndrome de Leucoencefalopatía Posterior , Femenino , Humanos , Persona de Mediana Edad , Síndrome de Leucoencefalopatía Posterior/inducido químicamente , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Azatioprina/efectos adversos , Imagen por Resonancia Magnética/métodos , Imagen de Difusión por Resonancia Magnética , Neuroimagen
4.
Brain Sci ; 13(6)2023 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-37371433

RESUMEN

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship between expanded repeat lengths and clinical phenotype in patients with NIID remains unclear. Thus, we aimed to clarify the genetic and clinical spectrum and their association in patients with NIID. For this purpose, we genetically analyzed Japanese patients with adult-onset NIID with characteristic clinical and neuroimaging findings. Trinucleotide repeat expansions of NOTCH2NLC were examined by repeat-primed and amplicon-length PCR. In addition, long-read sequencing was performed to determine repeat size and sequence. The expanded GGC repeats ranging from 94 to 361 in NOTCH2NLC were found in all 15 patients. Two patients carried biallelic repeat expansions. There were marked heterogenous clinical and imaging features in NIID patients. Patients presenting with cerebellar ataxia or urinary dysfunction had a significantly larger GGC repeat size than those without. This significant association disappeared when these parameters were compared with the total trinucleotide repeat number. ARWMC score was significantly higher in patients who had a non-glycine-type trinucleotide interruption within expanded poly-glycine motifs than in those with a pure poly-glycine expansion. These results suggested that the repeat length and sequence in NOTCH2NLC may partly modify some clinical and imaging features of NIID.

5.
Rinsho Shinkeigaku ; 62(9): 736-739, 2022 Sep 28.
Artículo en Japonés | MEDLINE | ID: mdl-36031381

RESUMEN

A 65-year-old man was admitted to our hospital with a 6-year history of painful muscle stiffness in his trunk and lower limbs, preventing him from walking. Stiff-person syndrome (SPS) was diagnosed because the patient had symptoms of painful muscle spasms elicited by tactile stimulation without joint contracture. Although SPS- related autoantibodies in the serum, including anti-glycine R, anti-amphiphysin, anti-glutamic acid decarboxylase (GAD), anti-dipeptidyl peptidase-like protein (DPPX) and anti-γ-aminobutyric acid-A (GABAA) R, were negative, the ACTH and cortisol levels were low. On the basis of additional loading tests for anterior pituitary function and ACTH, isolated ACTH deficiency (IAD) was diagnosed. Hormonal replacement therapy with hydrocortisone at 15 mg/day ameliorated the condition quickly, and the patient became asymptomatic after three months. Flexion contractures have been reported as musculoskeletal symptoms of IAD, but are not usually evident in patients with SPS. The present case illustrates that the painful muscle spasms elicited by tactile stimulation without joint contracture characteristic of SPS can also be symptoms of IAD.


Asunto(s)
Contractura , Síndrome de la Persona Rígida , Hormona Adrenocorticotrópica/deficiencia , Anciano , Aminobutiratos , Autoanticuerpos , Enfermedades del Sistema Endocrino , Enfermedades Genéticas Congénitas , Glutamato Descarboxilasa , Humanos , Hidrocortisona , Hipoglucemia , Masculino , Péptido Hidrolasas , Espasmo/diagnóstico , Espasmo/tratamiento farmacológico , Espasmo/etiología , Síndrome de la Persona Rígida/diagnóstico , Síndrome de la Persona Rígida/tratamiento farmacológico , Ácido gamma-Aminobutírico
7.
Rinsho Shinkeigaku ; 61(8): 563-566, 2021 Aug 30.
Artículo en Japonés | MEDLINE | ID: mdl-34275957

RESUMEN

A 50-year-old man with mitral regurgitation presented with right frontal subcortical hemorrhage. Although he had no fever and his white blood cell count was in the normal range, CT angiography demonstrated a micro cerebral aneurysm, and all three blood cultures were positive for Staphylococcus warneri (S. warneri). Thus, we diagnosed him with infective endocarditis. His condition improved successfully by immediate antibiotics and cerebral aneurysm clipping. S. warneri is a member of coagulase-negative staphylococci that are low-virulence and resident flora of the skin. S. warneri rarely causes infective endocarditis on native valves. Infective endocarditis caused by S. warneri manifests insidious course without inflammatory reactions such as fever and leukocytosis, and thus, diagnosis can be delayed. Attention should be paid to a patient who develops subcortical hemorrhage without a history of hypertension or inflammatory reactions as in this case.


Asunto(s)
Endocarditis Bacteriana , Aneurisma Intracraneal , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/etiología , Endocarditis Bacteriana/complicaciones , Fiebre/etiología , Humanos , Inflamación , Leucocitosis/etiología , Masculino , Persona de Mediana Edad , Staphylococcus
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