ResearchPad - rare-disease https://www.researchpad.co Default RSS Feed en-us © 2020 Newgen KnowledgeWorks <![CDATA[Successful sparing approach between the ascending aorta and the main pulmonary artery to the giant coronary aneurysm of the left main coronary artery]]> https://www.researchpad.co/article/elastic_article_9102 Coronary aneurysm located just above the left main coronary artery (LMT) is rare and difficult to treat. How the aneurysm is accessed is very important as it determines the result of the surgery. A 70-year-old man with a large coronary aneurysm (40 mm in diameter) in the LMT underwent surgery to prevent its rupture; however, there was severe adhesion. Initially, dissection of the ascending aorta or the pulmonary artery seemed necessary to access the aneurysm; however, the process was possible with limited dissection between the ascending aorta and the pulmonary artery, and we succeeded in firmly closing the LMT site of entry.

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<![CDATA[Surgical excision of post-traumatic myositis ossificans of the adductor longus in a football player]]> https://www.researchpad.co/article/N28129bd9-166a-4ca5-ac4c-d8fe07df6be6

A football player was diagnosed with myositis ossificans of his right adductor longus muscle after an acute injury. Conservative treatment failed and 1 year after the initial trauma the patient underwent surgical excision of a large ossification. Seven months postoperatively, the patient was fully recovered and returned to his preinjury activity levels. We present our approach to this case and discuss our considerations, referring to background information about this rare disease.

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<![CDATA[Disseminated intestinal basidiobolomycosis with mycotic aneurysm mimicking obstructing colon cancer]]> https://www.researchpad.co/article/5c82b312d5eed0c484e5ac88

Basidiobolomycosis is a rare fungal infection that may affect the gastrointestinal tract. It is caused by Basidiobolus ranarum and less than 80 cases have been reported in the literature. The incidence seems to be higher in the Middle East and in particular Saudi Arabia where most cases are diagnosed in the south-western region. An 18-year-old woman presented to the emergency department with an obstructing caecal mass initially suspected to be malignant. Surgical resection was complicated by bowel perforation, histology and cultures confirmed basidiobolomycosis infection. The postoperative course was complicated by an enterocutaneous fistula, fungal intra-abdominal abscesses, liver and lung abscesses, formation of mycotic hepatic artery aneurysm and meningoencephalitis. The patient eventually expired due to sepsis despite aggressive treatment. Diagnosis and management of such rare cases are very challenging and require a multidisciplinary approach. Complications are common and associated with a high mortality.

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<![CDATA[Persistent sciatic artery resembles a soft-tissue sarcoma in presentation]]> https://www.researchpad.co/article/5c82b314d5eed0c484e5acbe

Persistent sciatic artery (PSA) is a rare vascular anomaly with estimated incidence of 0.03%–0.06%. It has high incidence of complications including aneurysmal formation and ischaemia that may lead to amputation. During early embryonic development, the sciatic artery (which usually supply fetal lower buds and caudal part) disappears when the superficial femoral artery develops properly and the lower limbs grow. On clinical examination, usually a pulsating gluteal mass (the aneurysm) is appreciated with weak or absent femoral artery (Cowie’s sign). However, our patient had presented in a different way. She was referred from peripheral clinic as a case of possible liposarcoma in the gluteal region. On examination, there was obvious asymmetry between both buttocks. The affected side was hard, firm in consistency with no appreciable pulsation. Nevertheless, on auscultation there was a bruit of low grade. Peripheral pulses were palpable. Our clinical impression was towards a sarcoma namely a liposarcoma. MRI was requested to evaluate the mass. The radiology report suggested that most probably it is an angiosarcoma with slim possibility of being a cavernous haemangioma. The trucut biopsy was deferred, in view of the high vascular nature of the lesion. The plan was as follow: To do angiography and embolisation of the main feeding vessels, with the possibility of biopsy in a second incident if indicated. During the conventional angiography, the pathology revealed itself. The patient was type 3 according to Pillet-Gauffre classification (PSA is limited to gluteal area and the popliteal artery arising from the femoral artery) associated with huge arteriovenous malformation. Embolisation with different materials including coils, beads and foam was ineffective. Finally, the radiologist excluded the root of the sciatic artery by a stent bridging from common iliac to external iliac artery. This successfully occluded the PSA.

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<![CDATA[Concomitant Plasmodium vivax malaria and murine typhus infection with pulmonary involvement]]> https://www.researchpad.co/article/5c394522d5eed0c484a30a96

We report a case of Plasmodium vivax and murine typhus coinfection in a 30-year-old woman who presented with intermittent, high-grade fever. Her peripheral blood smear showed ring-form trophozoites of P. vivax, with an initial murine typhus serological test being negative. Although the P. vivax infection was successfully treated, she still had intermittent, high-grade fever, developed dyspnoea and bilateral interstitial pneumonitis shown in the chest X-ray. Thus, coinfection was suspected, and empirical antibiotics were given. The second serological test confirmed the concomitant murine typhus infection, and antibiotics treatment were successful with the complete recovery. This case emphasises that an initial negative murine typhus serological test does not necessarily rule out the presence of the disease. A follow-up murine typhus serological or molecular test within 1–2 weeks is therefore recommended.

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<![CDATA[Neck–tongue syndrome]]> https://www.researchpad.co/article/5c39451bd5eed0c484a3089a

Neck–tongue syndrome (NTS) is a rarely reported disorder characterised by paroxysmal episodes of intense pain in the upper cervical or occipital areas associated with ipsilateral hemiglossal dysaesthesia brought about by sudden neck movement. The most likely cause of this clinical entity is a temporary subluxation of the lateral atlantoaxial joint with impaction of the C2 ventral ramus against the articular processes on head rotation. NTS is an under-recognised condition that can be debilitating for patients and challenging for the treating physicians. Here, we report a 47-year-old man who fulfilled the International Classification of Headache Disorders, third edition criteria for a diagnosis of NTS was treated successfully with a chiropractic approach. There are currently no consensus guidelines for dealing with this disorder. Reassuringly, chiropractic care for uncomplicated NTS appears highly effective.

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<![CDATA[Giant ’staghorn' rhinolith in a 15-year-old girl]]> https://www.researchpad.co/article/5c394515d5eed0c484a30716

We describe a case of a 15-year-old girl who presented to our clinic with long-standing right-sided rhinorrhoea which was occasionally foul-smelling and blood-stained with no other symptom of note. She had been treated many times with antibiotics. On examination, a rhinolith was discovered impacted posteriorly in right nasal cavity with mucopurulent discharge. Plain X-ray and later CT scan of paranasal sinuses confirmed the diagnosis but it was found to be large in size with irregular shape like a ‘staghorn’. It was removed under general anaesthesia and she recovered uneventfully. We also describe the review of literature.

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<![CDATA[Hydralazine-associated antineutrophil cytoplasmic antibody vasculitis with pulmonary–renal syndrome]]> https://www.researchpad.co/article/5c37ba6fd5eed0c4844973e0

Hydralazine, a vasodilator, is commonly used as an adjunctive treatment for moderate to severe hypertension, heart failure and hypertensive emergencies in pregnancy. Hydralazine-induced lupus was first described in 1953. Clinical presentation ranges from arthralgia, myalgia, petechiae, or rash to single or multiorgan involvement. An occurrence of systemic vasculitis is a rare complication. When presented as the pulmonary–renal syndrome, it could have a rapidly progressive course which can be fatal. Here, we describe a case of hydralazine-associated rapidly progressive glomerulonephritis and pulmonary haemorrhage. We use this case to review the current literature and discuss and highlight the importance of a high degree of clinical acumen, early diagnosis and prompt treatment for better clinical outcomes.

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<![CDATA[Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease]]> https://www.researchpad.co/article/5c19b1a4d5eed0c484c4db32

A 69-year-old woman suffering from exophthalmos and facial pain came to us referred for aetiological diagnosis of exophthalmos. Orbital MRI showed thinned extrinsic ocular musculature, intraconal fat infiltration, retro-ocular compression and thickening of maxillary and sphenoid sinus walls. She had been suffering from diabetes insipidus for the last 7 years. During our diagnosis process, she presented signs of cardiac tamponade. Transthoracic heart ultrasound revealed large pericardial effusion and a heterogeneous mass that compressed the right ventricle. No osteosclerotic lesions on appendicular bones were present. Pericardiocentesis temporarily controlled tamponade and corticoid therapy temporarily abated exophthalmos. Pericardiectomy definitively resolved tamponade. Histological examination of pericardial tissue was conclusive of Erdheim-Chester disease. Exophthalmos responded to pegylated interferon-alpha-2a. Facial bone pain disappeared after zoledronic acid and interferon treatment. During interferon therapy, the patient suffered from a severe generalised desquamative exanthema that slowly resolved after discontinuing interferon. Diabetes insipidus remains controlled with desmopressin.

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