Cases reported "Syndrome"

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1/37. Rigid spine syndrome. Two case-reports.

    Rigid spine syndrome is characterized by massive spinal rigidity, usually most marked in the cervical region. Stiffness of the peripheral joints is sometimes present. We report two cases. Patient 1 was a 12-year-old boy diagnosed at three years of age with Duchenne's muscular dystrophy because of delayed onset of walking. contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. An electrocardiogram showed an incomplete left bundle branch block. Muscle enzyme activities were moderately elevated. A myopathic pattern was seen on the electromyogram. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. Patient 2 was a 39-year-old man with a five-year history of isolated rigidity of the cervical spine thought to be due to a spondylarthropathy. Extension was the only movement possible at the cervical spine. The peripheral joints showed no motion range limitation. Findings were normal from radiographs of the spine and sacroiliac joints, an erythrocyte sedimentation rate determination, an electromyogram, and muscle enzyme activity assays. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. DISCUSSION: Rigid spine syndrome is rare in rheumatological practice and can simulate a number of other muscle and joint diseases. Peri- and endomysial fibrosis may be strongly suggestive, although nonpathognomonic. Involvement of the heart governs the prognosis.
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2/37. An infectious mononucleosis-like syndrome induced by minocycline: a third pattern of adverse drug reaction.

    A 22-year-old black man developed fever, chills, fatigue, night sweats, tender lymphadenopathy, and a generalized, pruritic, macular eruption 3 weeks after starting minocycline therapy for acne. His illness was also characterized by a palpable spleen tip, marked lower extremity and scrotal edema, and generalized lymphadenopathy. The patient had leukocytosis with a large percentage of atypical lymphocytes on peripheral smear and liver dysfunction. Titers for Epstein-Barr virus, hepatitis b, toxoplasmosis; and cytomegalovirus were all negative. Human immunodeficiency virus-1 viral load and antibodies were also negative. Marked improvement was noted after the discontinuation of minocycline and the use of systemic corticosteroids. With the negative viral serologies, the clinical picture was most consistent with an infectious mononucleosis-like syndrome produced by the minocycline ingestion.
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3/37. Achilles tendinitis as the presentation form of Lofgren's syndrome.

    Lofgren's syndrome is characterised by bilateral hilar adenopathy arthritis and erythema nodosum. Achilles tendinitis as the presentation form of Lofgren's syndrome is very unusual. Herein we present a case of bilateral achilles tendinitis as the presentation form of Lofgren's syndrome.
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4/37. Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Grasbeck syndrome.

    Two Imerslund-Grasbeck patients who presented with recurrent urinary tract infections and genitourinary abnormalities are described. The patients were evaluated with abdominal ultrasounds, voiding cystourethrograms, and Schilling tests. Each patient had large postvoid residual urine secondary to a motor-neurogenic bladder. One had a duplication of the distal urethra manifesting as two meatal openings. There was lack of urinary excretion of radioactive vitamin B12 on Schilling tests in both patients. patients with Imerslund-Grasbeck syndrome may be predisposed to urinary tract infections because of incomplete bladder emptying. Complete physical and radiological examinations of the genitourinary tract should be performed.
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5/37. Lemierre's syndrome caused by viridans streptococci: a case report.

    A 53-year-old man had fever, chills, and a progressively enlarged mass over the left mandibular angle for one month. A chest radiograph showed two small nodules in the upper right lung field. A contrast-medium-enhanced head-and-neck computed tomograph revealed severe necrosis within the left lateral pharyngeal space and total obliteration of the left internal jugular vein. viridans streptococci were identified in the blood culture and the debrided tissue culture 2 days post-admission. The presentations were characteristic of Lemierre's syndrome and were evident in this case, however, the causative agent was viridans streptococci and the host was much older than the others previously reported. The normal flora of the oropharynx could become a fatal bacterium when the intact mucosal barrier of the mouth is impaired, regardless of the patient's age.
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6/37. The accessory flexor digitorum longus as a cause of Flexor Hallucis Syndrome.

    The Flexor Hallucis Syndrome has been associated with ballet and sports activities. It has been thought to represent over use with attendant tenosynovitis of the tendon in the fibro-osseous tunnel extending from the ankle to the midfoot. We report a patient with an accessory flexor digitorum longus who presented with classical clinical features of the syndrome. The patient's disabling symptoms persisted despite a year and a half of nonoperative treatment. They were finally relieved when the accessory muscle was excised. In addition to the previously described clinical features of the Flexor Hallucis Syndrome, the physical exam included abnormal fullness between the achilles tendon and the tibia. When the ankle was held in dorsiflexion, there was limited dorsiflexion of the lateral toes, which were tethered by the "cork-in-a-bottle" effect of the distal muscle mass of the accessory flexor digitorum longus muscle at the flexor retinaculum and fibro-osseous canal of the flexor hallucis longus. The MRI examination confirmed the presence of an abnormal muscle mass extending distal to the ankle joint with the foot in neutral. The study also demonstrated fluid in the ankle joint and fibro-osseous canal of the flexor hallucis, and marrow edema within the body of the talus consistent with chronic inflammation. Follow-up MRI six months after excision of the muscle revealed some scar formation at the site of the previously excised muscle and complete resolution of the joint effusion, fluid in the tunnel of the flexor hallucis, and marrow edema.
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7/37. Reactive airways dysfunction syndrome following metal fume fever.

    Metal fume fever (MFF) is an acute response to the inhalation of heavy metals used in industry. The patient typically experiences symptoms of cough, fever, chills, malaise, and myalgia that are self-limited and of short duration. Wheezing may occur and pulmonary function may be acutely impaired with a decrease in lung volumes and diffusing capacity of carbon monoxide. Nevertheless, respiratory function quickly returns to normal, and persistent pulmonary insufficiency is unusual. Irritant-induced asthma is a non-immunogenic form of airway injury that may be associated with industrial inhalation exposure. In this situation, the direct toxic effect on the airways causes persistent airway inflammation and bronchial hyperreactivity. The two conditions are considered distinct entities, but we report a previously healthy worker who had classic MFF and was left with irritant-induced asthma or reactive airways dysfunction syndrome (RADS).
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8/37. lemierre syndrome in a previously healthy young girl.

    lemierre syndrome is a severe postanginal sepsis complicated by internal jugular thrombophlebitis. We report on a 14 y-old girl affected by high fever, shivering chills, headache, severe lateral neck pain, left ocular proptosis and general malaise. magnetic resonance imaging of the head and neck showed right internal jugular vein and sigmoid sinus thrombosis. fusobacterium sp. was identified in the blood culture. CONCLUSION: Our report is a reminder that lemierre syndrome still exists and remains potentially life threatening. A high index of suspicion is necessary to prompt diagnosis and treatment.
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9/37. brain lactic alkalosis in Aicardi-Goutieres syndrome.

    Aicardi-Goutieres syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related microangiopathy. We report brain imaging and proton (1H) and phosphorus-31 (31P) magnetic resonance spectroscopy (MRS) findings during the first year after birth in two patients. In patient 1 the evolution of brain metabolite ratios and intracellular pH obtained from serial 1H (long TE) and 31P MRS studies are described; in patient 2 a single 1H (short TE) MRS study is described. Imaging findings included basal ganglia calcifications, cerebral atrophy, and leukodystrophy. The MRS results demonstrated that Aicardi-Goutieres syndrome is associated with reduced NAA/Cr, reflecting decreased neuronal/axonal density or viability, increased myo-inositol/Cr, reflecting gliosis or osmotic stress and a persisting brain lactic alkalosis. A brain lactic alkalosis has also been observed in those infants surviving perinatal hypoxia-ischaemia but with a poor neurodevelopmental outcome. A possible mechanism leading to brain alkalosis is up-regulation of the Na /H transporter by focal areas of ischaemia related to the microangiopathy or by pro-inflammatory cytokines. Such brain alkalosis may be detrimental to cell survival and may increase glycolytic rate in astrocytes leading to an increased production of lactate.
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10/37. Endovascular repair for multiple salmonella mycotic aneurysms of the thoracic aorta presenting with Cardiovocal syndrome.

    salmonella mycotic thoracic aortic aneurysm is a rare but life-threatening condition. We report a 59-year-old man with two salmonella mycotic thoracic aortic aneurysms, presented with fever and chills associated with hoarseness due to left vocal cord palsy (Cardiovocal syndrome). Successful endovascular repair was performed using two Talent thoracic stent-graft devices deployed separately to cover the two mycotic aneurysms. Subsequent computed tomography at 12 months after the operation confirmed exclusion of the two pseudoaneurysms with no endoleak. With potent antibiotics and careful surveillance program, endovascular repair is a possible alternative to conventional open surgery in the management of mycotic thoracic aortic aneurysms, especially in high-risk patients.
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