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Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.

ABSTRACT: BACKGROUND:We report a rare case of an 18-year-old male with unilateral hand tremor who was finally diagnosed with Hirayama disease (HD). CASE PRESENTATION:An 18-year-old male presented with unilateral polymyoclonus that aggravated with neck flexion. The patient did not complain of muscle weakness or muscle atrophy. The needle electromyography showed giant motor unit potentials in right cervical 7 and 8 innervated muscles. The cervical magnetic resonance imaging on supine and flexion state showed prominent forward effacement of posterior dural sac that was compatible with HD. CONCLUSIONS:HD usually presents with unilateral distal hand weakness, muscle atrophy and tremor. Although it is a benign and self-limiting disease, early diagnosis may lead to less clinical deterioration. Moreover, electromyography should be completed in the differentiation of young male patients who present with polymyoclonus without hand weakness or atrophy.

SUBMITTER: Kim JY

PROVIDER: S-EPMC7460763 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.

Kim Jun-Young JY Hwang Su-Keong SK Kwon Soonhak S Park Jin-Sung JS

BMC neurology 20200901 1

<h4>Background</h4>We report a rare case of an 18-year-old male with unilateral hand tremor who was finally diagnosed with Hirayama disease (HD).<h4>Case presentation</h4>An 18-year-old male presented with unilateral polymyoclonus that aggravated with neck flexion. The patient did not complain of muscle weakness or muscle atrophy. The needle electromyography showed giant motor unit potentials in right cervical 7 and 8 innervated muscles. The cervical magnetic resonance imaging on supine and flex ...[more]

PMID: 32873232

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Project description:Introduction and importanceEchinococcus granulosus causes hydatid disease. The most affected organ is the liver which is followed by the lungs. The pleural cavity being the primary location of hydatid cysts is rare and should be discussed further. This paper documents a rare case of primary pleural hydatidosis which can present with a merely isolated cough followed by dyspnea. The diagnosis and surgical treatment along with post-operative medications are vital in this case.Case presentationWe present a case of a 45-year-old who suffered from a cough for more than one week which did not subside after taking medications. This symptom was followed by dyspnoea for which an X-ray was done which showed left-sided pleural effusion, a complication of pleural hydatidosis. Computed tomography showed multiple cysts in the pleural cavity which confirmed the diagnosis of primary pleural hydatidosis as the cysts were not present in any other sites. Blood work revealed eosinophilia which is significant in parasitic diseases. A left posterolateral thoracotomy was performed, and the cysts were surgically removed. Additionally, empyemectomy and pleurectomy were done. The patient was then treated with anti-parasitic therapy and was advised to get X-rays during the follow-up visits. The X-rays were normal and indicated that there was no disease recurrence.Clinical discussionEchinococcus granulosus is a parasitic worm that causes hydatid disease. The primary location is the liver. A diagnosis of intrathoracic but extrapulmonary disease, which involves the presence of hydatid cysts in the pleura, heart, pericardium, mediastinum, chest wall, and diaphragm, is difficult in individuals lacking a primary cyst in a common location (Isitmangil et al., 2003; Saeedan et al., 2020).ConclusionThis case implies the significance of a cough of more than a week that is not relieved by medications. This should be carefully evaluated and followed in cases that have a rare diagnosis requiring surgery. A diagnosis of primary pleural hydatidosis with left-sided pleural effusion and atelectasis with mediastinal shift to the right side was made which was treated with a surgical procedure.

Project description:BackgroundRosai-Dorfman-Destombes disease (RDD) is a rare histioproliferative disease with unknown etiology. It commonly occurs in lymph nodes and can affect extra-nodal tissues and organs. Renal RDD is extremely rare, only a few cases have been reported, and its clinical symptoms and imaging findings are non-specific. To date, no literature has summarized its imaging manifestations in a large number of cases. Due to the involvement of different tissues and organs, there is no standard treatment for RDD. It has been reported that RDD patients with kidney involvement have a poor prognosis. Thus, understanding of renal RDD need to be extended.Case descriptionWe present a rare case of renal RDD in an asymptomatic 67-year-old male. The results of an ultrasound examination indicated that both kidneys were surrounded by hypoechoic soft tissue lesions, and there was a huge mass in the left kidney, which had a clear boundary with the renal capsule. The results of contrast-enhanced ultrasound (CEUS) showed hypo-enhancement in the bilateral perinephric lesions and mass. However, the computed tomography urography (CTU) findings revealed no obvious enhancement. The patient then underwent a series of laboratory tests, but no relevant information was found. To make a clear diagnosis, the urologist then removed the left perirenal mass and some perirenal tissues, and the patient was finally pathologically diagnosed with extra-nodal RDD. The patient remains asymptomatic, and no treatment has been administered to date.ConclusionsThis case may be the first reported case in which CEUS was performed and the second reported case of asymptomatic renal RDD. Based on the previous literature reports, we found that some specific characteristics of renal RDD include bilateral perirenal lesions with a "hairy kidney" appearance. CEUS and/or CTU can be used to help differentiate a solitary mass of RDD from common tumors, to avoid misdiagnosis leading to unnecessary nephrectomy.

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Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.

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Polymyoclonus aggravated by neck flexion as the isolated presenting symptom of Hirayama disease: case report.

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