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Hirayama Disease: A Case of an Albanian Woman Clinically Stabilized Without Surgery.

ABSTRACT: Hirayama Disease (HD) is a rare clinical condition that usually affects young people with preference for Asian males. It appears with unilateral distal amyotrophy or asymmetric bilateral amyotrophy of an upper limb which is to refer to an involvement of the spinal metamers C7-C8-T1. A clinical case of a female patient of Albanian nationality is described, with onset of the disease in adulthood and clinical and electrophysiological features suggestive of HD, without any characteristic imaging findings. Clinical investigations, EMG and radiological data facilitated the diagnosis and allowed the exclusion of degenerative forms of the motor neuron and radiculopathies. In this paper, we want to point out that the diagnosis of this pathology should be hypothesized even in the absence of characteristic epidemiological and imaging data.

SUBMITTER: Antonioni A

PROVIDER: S-EPMC7090124 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Hirayama Disease: A Case of an Albanian Woman Clinically Stabilized Without Surgery.

Antonioni Annibale A Fonderico Mattia M Granieri Enrico E

Frontiers in neurology 20200317

Hirayama Disease (HD) is a rare clinical condition that usually affects young people with preference for Asian males. It appears with unilateral distal amyotrophy or asymmetric bilateral amyotrophy of an upper limb which is to refer to an involvement of the spinal metamers C7-C8-T1. A clinical case of a female patient of Albanian nationality is described, with onset of the disease in adulthood and clinical and electrophysiological features suggestive of HD, without any characteristic imaging fin ...[more]

PMID: 32256441

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Finger trembling improvement after surgery in Hirayama disease: a case report.

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| S-EPMC9038729 | biostudies-literature

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Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease.

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The woman without a history.

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Genetic characterization of the Albanian Gaucher disease patient population.

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| S-EPMC7802630 | biostudies-literature

Case Report: Abnormally Low Glycosylated Hemoglobin A1c Caused by Clinically Silent Rare β-Thalassemia in a Tujia Chinese Woman.

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| S-EPMC9114733 | biostudies-literature

Infected thoracic aortic graft in a woman with Darier disease: a case report.

Project description:BackgroundPatients with Darier disease often present with staphylococcal skin infections and are at risk for complications when they undergo cardiothoracic surgery, such as acute aortic dissection repair.Case summaryA 39-year-old woman with hypertension and Darier disease suffered an acute type A aortic dissection, requiring emergency operation with a Dacron graft. Twenty-five days post-operatively, she developed pneumonia and staph hominis was isolated in blood cultures and Bronchoalveolar Lavage. Following completion of antibiotics, multiple relapses occurred during a 6-month period, each time treated with appropriate antibiotic therapy. An 18F-fluorodeoxyglucose positron emission tomography computerized tomography showed persistent graft uptake and re-operation was performed. At 22 months of follow-up, the patient remains asymptomatic and the 18F-FDG PET/CT shows significant reduction in FDG uptake.DiscussionGraft infection is a rare but serious complication. Antibiotic therapy is often inadequate and re-operation is needed. As staphylococcal skin infections often occur in patients with Darier disease, adequate preprocedural skin preparation and sterilization are very important in these patients.

| S-EPMC9356721 | biostudies-literature

Fulminant myocarditis in a young woman with mixed connective tissue disease: a case report

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| S-EPMC10122413 | biostudies-literature

The radiological and electrophysiological characteristics of Hirayama disease with proximal involvement: A retrospective study.

Project description:PurposeHirayama disease (HD) has been largely believed to affect only distal muscles. However, the proximal upper extremities have been affected in some cases, which can be confused with motor neuron diseases.MethodsBaseline data, deep tendon reflex, Hoffmann sign, cervical curvature, sagittal Cobb angle, atrophied spinal cord, high signal intensity, loss of attachment, and affected muscles and segments on electromyography (EMG) were retrospectively obtained and compared between patients with HD with proximal involvement and patients with simple distal HD in one center from September 2007 to April 2022.ResultsIn this study, fifteen patients with proximal HD and 30 patients with simple distal HD were included. The proximal group had a larger proportion of patients with decreased biceps reflex, decreased triceps reflex, brisk or hyperactive knee reflex, positive Hoffmann sign, and cervical kyphosis. The curvatures of the upper part of the cervical spine (C2-4) were lost to a greater degree in the proximal group. More affected segments were observed on magnetic resonance imaging (MRI) and electromyography in the proximal group.ConclusionThe injured segments were longer and the upper curvature of the cervical spine was poorer in patients with HD with proximal involvement. These findings indicated that proximal involvement may indicate more serious HD.

| S-EPMC9406812 | biostudies-literature

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