Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our objective is to report a rare coexistence of Parry-Romberg disease and ischemic stroke. Here, we report the case of a 34-year-old woman with Parry-Romberg syndrome who developed cerebral infarction. This patient developed sudden left-sided weakness and was admitted to our hospital. Magnetic resonance imaging revealed acute cerebral infarction in the posterior limb of the right internal capsule. The patient had been diagnosed with Parry-Romberg syndrome at the age of 12, and she had a history of migraine without aura. Transesophageal echocardiography revealed a patent foramen ovale, but no atrial septal aneurysm or deep vein thrombosis was observed in the lower extremities. She was treated with 200 mg of aspirin and 10 mg of atorvastatin. Her symptoms gradually improved, and she was discharged 10 days after admission. Parry-Romberg syndrome is a rare disease of progressive hemifacial atrophy with unknown etiology. The potential risk factors for ischemic stroke in Parry-Romberg syndrome include ipsilateral cerebrovascular abnormality or migraine. In addition, patent foramen ovale was identified as a concomitant risk factor in our case.
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PMID:Cerebral infarction in a case of Parry-Romberg syndrome. 2366 60

Peripheral neuropathies caused by ganglion cysts are rare. They seldom cause serious complications especially in the lower extremities. The case was a 51-year-old woman referred by her physician to the vascular surgeon with diagnosis including intermittent (vascular) claudication and deep venous thrombosis. Primarily vascular surgeon performed a doppler ultrasound of the lower extremity and calculation of the ankle-brachial index. There were no abnormal pathological findings. Careful physical examination revealed soft swelling and tenderness around the fibular head and neck. Weakness was observed in foot eversion and dorsiflexion. There was pain and tingling in the distribution of the peroneal nerve. and referring the patient to orthopedic surgeon owing to concern for a potential compressive lesion at the right proximal tibiofibular region. Electromyogram studies and physical examination confirmed a diagnosis of compression neuropathy of common peroneal nerve. Magnetic resonance imaging revealed a fluid-filled, lobulated mass indicating a ganglion cyst. One months after decompression, the patient had no complaint. Fast diagnosis and immediate management are essential to regain best possible recovery.
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PMID:Compression of common peroneal nerve caused by an extraneural ganglion cyst mimicking intermittent claudication. 2372 Oct 86

A 42-year-old man presented to clinic with 1-week history of cough, malaise, loss of appetite and fever. Symptoms started acutely with cough and generalised weakness followed by fever, chills, nausea, vomiting and diarrhoea. He has been healthy before with no chronic illnesses. Further workup disclosed, leucocytosis with 87% eosinophilia, bilateral lung infiltrate, deep venous thrombosis, pulmonary embolism and both right and left biventricular mural thrombi. Extensive workup was done and was consistent with hypereosinophilic syndrome, which explained all his clinical findings. The patient was started on high-dose steroids and responded very well with a complete resolution of symptoms over the course of a few weeks.
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PMID:Loeffler's endocarditis with biventricular mural thrombi. 2408 24

49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age of 54 years. So far, no medical follow-up was performed specifically for his condition. This man presented with facial features (epicanthus, hypertelorism, up-slanting palpebral fissures), microorchidism and features of chronic hypoandrogenism with muscular weakness, sparse body hair, dry skin with abnormal healing of skin wounds. Endocrine evaluation confirmed a hypergonadotropic hypogonadism. He had moderate intellectual deficiency with more affected verbal skills. A recent deep vein thrombosis was diagnosed in his left leg. Unusually, in addition to moderate deafness, he developed progressively a severe vision impairment leading to blindness. There have been very few reports of adult individuals with 49, XXXXY syndrome and this kind of report may contribute to improved management of prospective medical healthcare associated with this condition in older individuals.
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PMID:[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation]. 2487 49

A previously healthy 21-year-old man presented with back pain, bilateral extremity pain, and right lower extremity weakness, paresthesias, and swelling. Sonographic examination revealed diffuse deep vein thrombosis (DVT) in the femoral and popliteal venous system. CT imaging revealed hypoplasia of the hepatic inferior vena cava (IVC) segment with formation of multiple varices and collateral veins around the kidneys. Hematologic workup also discovered a factor V Leiden mutation, further predisposing the patient to DVT. The rare, often overlooked occurrence of attenuated IVC, especially in the setting of hypercoagulable state, can predispose patients to significant thrombosis.
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PMID:Congenital anomaly of the inferior vena cava and factor V Leiden mutation predisposing to deep vein thrombosis. 2539 58

One of the challenging issues in patients with complex problems is that the various diseases and their treatment can influence each other and present unusual hurdles in management. We investigated one such complex case. A 34-year-old XY male presented with azoospermia, detected on semen analysis for pre-orchidectomy sperm banking. He had a 20-year history of gender dysphoria and bilateral breast swelling. The patient suffered a deep vein thrombosis at the age of 19 years. Examination confirmed clinical features of Kallmann syndrome including unilateral cryptorchidism, micropenis, congenital anosmia, and bimanual synkinesis (mirror movements), with reduced serum testosterone and normal gonadotropin levels demonstrating hypogonadotropic hypogonadism. MRI showed missing olfactory bulbs. Osteopenia and reduced vitamin D levels of 21 nmol/L were identified. He was found to harbor a heterozygous factor-V-Leiden mutation. The genetic basis of Kallmann syndrome remains unknown: his screening tests were negative for mutations in CHD7, FGF8, FGFR1, GNRH1, GNRHR, HS6ST1, KAL1, KISS1R, KISS1, NELF, PROK2, PROKR2, TAC3, and TACR3. The patient initially declined testosterone therapy with a view to undergo gender reassignment. Over the next 2 years, the patient experienced recurrent episodes of weakness and paresthesia, associated with classical MRI appearances of multiple sclerosis-related demyelination in the spinal cord and brain. Although it was difficult to elucidate an association between the patient's gender dysphoria and untreated congenital hypogonadism, his desire to become female together with his co-existing thrombophilia, presented challenges to the administration of hormone treatment. Furthermore, we have considered an association between multiple sclerosis and hypogonadotropic hypogonadism.
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PMID:Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. 2573 77

A 69-year-old woman complained of severe left leg weakness with paresthesia. Electrodiagnostic tests revealed sciatic neuropathy, and imaging studies showed venous engorgement around the sciatic nerve. After anticoagulant therapy and intensive rehabilitation, the patient's muscle strength improved from 1 to 3 on the Medical Research Council scale. The diagnosis of sciatic neuropathy caused by deep vein thrombosis is extremely rare; however, it should be considered in the differential diagnosis of unilateral lower extremity weakness in patients recovering from intensive care.
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PMID:Sciatic Neuropathy Caused by Focal Venous Engorgement Associated With Deep Vein Thrombosis: A Case Report. 2607 64

In 1998 a 57-year-old man having skin leisons of 6 months duration reported to Central Leprosy Teaching and Research Institute (CLTRI), Chengalpattu. It was diagnosed as a case of borderline lepromatous leprosy with a type 2 lepra reaction, was treated with multi bacillary-multi drug therapy (MBMDT) for a period of 12 months and the patient was released from treatment (RFT) in September 1999. For reactions the patient was treated with prednisolone for more than 10 months. After 14 years in April 2013 the same patient presented to CLTRI with complaints of weakness of both hands with loss of sensation for 4 months, so making a diagnosis suggestive of MB relapse with neuritis the patient was started with MB-MDT for period of 12 months with initial prednisolone 25 mg OD dose then increased to 40 mg for painful swollen leg and to follow the neuritis associated pain and swelling. Increased dose is not beneficial and the patient was investigated for other pathology. Doppler ultra-sound revealed a left ileofemoral deep vein thrombosis (DVT) in that patient with levels. Prednisolone was withdrawn and the patient was started with anticoagulant heparin followed by warfarin. During this period rifampicin was also withdrawn. After patient was in good condition he was put on MB-MDT regimen. Till the 6th pulse the patient continues to show improvement in functions without steroids and any tenderness, he is taking multivitamins; regular physiotherapy. This DVT appears to be due to prednisolone and such causative relationship though rare should be kept in mind when patient on long term treatment with steroids/and or immobilized or on prolonged bed rest report with such symptomatology.
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PMID:Ileofemoral Deep Vein Thrombosis (DVT) in Steroid Treated Lepra Type 2 Reaction Patient. 2699 89

A 69-year-old female with history of immobilization presented with shortness of breath and generalized weakness and was found to have large saddle pulmonary embolus on CT scan. Further evaluation with a transthoracic echocardiography revealed a moderately enlarged and hypokinetic right ventricle with a pulmonary artery clot of about 1.5 cm seen at the bifurcation while the ultrasound of the legs was negative for deep vein thrombosis.
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PMID:A case of saddle pulmonary embolus visualized on a transthoracic echocardiography in a 69-year-old female. 2712 69

Venous thromboembolism (VTE) is a multifactorial disease manifesting as either deep vein thrombosis or pulmonary embolism. Its prevalence makes VTE a significant issue for both the individual - as a negative factor influencing the quality of life and prognosis - and the society due to economic burden. VTE is the third most common vascular disorder in Western countries, after myocardial infarction and stroke, making it a major cause of in-hospital mortality, responsible for 5%-10% of hospital deaths. Despite many studies conducted, only 50%-60% provoking factors have been identified, while the remaining 40%-50% have been classified as idiopathic or unprovoked. Chronic inflammatory disorders, with their underlying prothrombotic state, reveal an increased risk of VTE (six to eight times) compared with the general population. Among the inflammatory disorders, we can identify inflammatory myopathies - a group of rare, chronic diseases featuring weakness and inflammation of muscles with periods of exacerbation and remission; their main classes are polymyositis and dermatomyositis. The objective of this review is to emphasize the need of VTE prophylaxis in individuals with inflammatory myopathies in order to reduce morbidity and mortality rates among those patients and improve their quality of life and prognosis.
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PMID:Elevated risk of venous thromboembolic events in patients with inflammatory myopathies. 2735 Jul 51


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