Patau Syndrome - Causes, Symptoms, Diagnosis and Treatment

Patau syndrome - a chromosomal disorder caused by the presence of an extra copy of the 13th chromosome (Trisomy 13 chromosome). The Patau syndrome structure includes multiple defects of the nervous system (microcephaly, goloprozentsefaliya), eye (microphthalmia, cataract), the musculoskeletal system (polydactyly, cleft lip and palate, omphalocele), heart, urogenital system and others. In order to identify and confirm the Patau syndrome conducted prenatal screening, karyotype of the child after birth. Children with Patau syndrome is necessary restorative therapy; by indications - Correction of congenital malformations.

Vertebral artery syndrome - causes, symptoms, diagnosis and treatment

Vertebral artery syndrome - a number of vestibular disorders, vascular and vegetative nature, arising from the abnormal narrowing of the vertebral artery. The most common etiology is Vertebrogenic. Clinically manifested recurrent syncope, seizures basilar migraine, TIA-Barre syndrome Leu, ophthalmic, vegetative, vestibular-cochlear and vestibular-atactic syndromes. Diagnosis helps radiography and REG with functional tests, MRI and CT of the spine and brain, ophthalmoscopy, audiometry and so forth. The therapy involves the use of venotoniki, vascular and neuroprotective drugs, symptomatic treatment, massage, physical therapy, exercise therapy.

Irritable Bowel Syndrome (IBS) - Causes, Symptoms, Diagnosis and Treatment

Irritable Bowel Syndrome - a functional disorder, which is based on a violation of visceral sensitivity and motor activity of the intestine, as well as psycho-emotional disorders. It is accompanied by discomfort and constant aching or sharp pain in the abdomen, passing after defecation, feeling of incomplete emptying of the bowel. Characterized by urgency to defecate may mucus in the feces, change in stool frequency, stool consistency. Laboratory and instrumental diagnostics purports to exclude organic pathology of the digestive tract. Syndrome Treatment includes diet therapy, psychotherapy, receiving medication.

Riley-Day syndrome - causes, symptoms, diagnosis and treatment

Riley-Day syndrome - severe, genetically determined sensory autonomic neuropathy. The symptom includes a combination of dysphagia, vomiting, reduced surface sensitivity, autonomic dysfunction, ataxia, inadequate secretion of tear fluid. Diagnose Riley-Day syndrome helps conduct histamine tests and DNA analysis, the exclusion of other pathology using neurosonography or MRI. Symptomatic therapy, aimed at arresting vomiting, compensation of fluid loss, normalization of blood pressure, reduction of muscular hypotonia, neuropsychological correction.

the collapse of the tumor syndrome - causes, symptoms, diagnosis and treatment

the collapse of the tumor syndrome - syndrome caused by the rapid destruction of a large number of malignant neoplasia cells. Usually it occurs in the treatment of diseases of the blood system, at least - in the treatment of other cancers. It is accompanied by metabolic disorders that cause arrhythmias, bradycardia, seizures, disorders of consciousness, acute renal failure, diarrhea or constipation, nausea, vomiting, intestinal obstruction and other violations of the various organs and systems. Diagnosis is based on symptoms and laboratory data. Treatment - infusion therapy, symptomatic therapy, hemodialysis.

resistant ovary syndrome - causes, symptoms, diagnosis and treatment

resistant ovary syndrome - a pathological syndrome that develops as a result of insensitivity to gonadotropic stimulation of the ovaries. For ovarian resistance syndrome is characterized by secondary amenorrhea and infertility in women younger than 35 years. In the diagnosis of the syndrome of resistant ovary important data gynecological history and examination, hormonal measurements and samples, ultrasound, biopsy the ovaries. Treatment of the syndrome involves a hormone estrogen replacement; pregnancy possible using ART techniques.

Raynaud's syndrome - Causes, Symptoms, Diagnosis and Treatment

Raynaud's Syndrome - vasospastic disease characterized by paroxysmal disorder of blood circulation in the vessels of the extremities (feet and hands) under the influence of cold or emotional disturbances. Raynaud's syndrome develops in the connective tissue, rheumatoid arthritis, vasculitis, endocrine, neurological disorders, blood disorders, occupational diseases. Raynaud's syndrome is clinically manifested seizures, including consistent blanching, cyanosis, and flushing of the fingers or toes, chin and tip of the nose. Raynaud's syndrome leads to gradual changes in the trophic tissue. Conservative measures include receiving vasodilators, surgical treatment is sympathectomy.

Rett Syndrome - Causes, Symptoms, Diagnosis and Treatment

Rett Syndrome - a genetic disease characterized by due to lack of inhibition of certain genes in violation of the nervous system. Manifestations of this state are progressive mental retardation in girls (with very rare atypical forms - and boys), hypotonia, ataxia, spinal curvature. Diagnosis of Rett syndrome is based on the general and neurological examination data, magnetic resonance imaging, electroencephalography, and molecular genetic testing. Specific treatment does not exist (there are only certain developments with promising results in experiments on animals), used symptomatic therapy to relieve the patient's condition.

Reye's Syndrome - Causes, Symptoms, Diagnosis and Treatment

Reye's syndrome - rapidly progressive, life-threatening acute encephalopathy combined with liver disease and in the classic version due to taking aspirin on a background of viral infection. Manifests sudden vomiting, then there is agitation alternating with apathy, lethargy, disorientation with the transition into a coma. Diagnosis is by clinical data based on medical history, the results of clinical and biochemical blood tests, CSF studies, abdominal ultrasound, coagulation, liver biopsy. Treatment is based on an intensive therapy hemodynamic, coagulation, respiratory disorders and cerebral edema. The earlier treatment is started, the greater the hope for a favorable outcome.

Syndrome of Rokitansky-Kyustnera - causes, symptoms, diagnosis and treatment

Aplasia of the uterus and vagina (Rokitansky-Kyustnera syndrome) - a rare congenital anomaly characterized by a lack of primary uterus and the upper 2/3 of the vagina. The syndrome Rokitansky-Kyustnera retained normal development of external genitalia, ovarian and severity of secondary sexual characteristics, no chromosomal abnormalities (there is a female karyotype 46HH). It is characterized by primary amenorrhea, often combined with malformations of other systems. Diagnosed during a gynecological examination (examination, ultrasound, MRI, laparoscopy). Treatment of the syndrome Rokitansky-Kyustnera - surgery, is to create neovaginy - artificial vaginal tube.

Roussy-Levy syndrome - Causes, Symptoms, Diagnosis and Treatment

Roussy-Levy syndrome - a hereditary disease from the group motosensornyh neuropathies, according to some representation is a phenotypic variant amyotrophy of Charcot-Marie-Tooth disease. The main symptoms include sensory ataxia, weakness and malnutrition distal extremities muscles (mostly lower), tendon areflexia. When the diagnosis is based on clinical features of symptoms and course of the disease, family history, results electroneuromyography. Patients show a regular symptomatic treatment: antiholinesteraznae pharmaceuticals, vitamins, potassium, ATP, massage, physiotherapy, exercise therapy.

Sweet's Syndrome - Causes, Symptoms, Diagnosis and Treatment

Sweet's syndrome - a form of neutrophilic dermatosis, which is characterized by recurrent ostrovospalitelnym. The main manifestations of this disease is plaque pink or bright red, fever, neutrophilia, pain in the joints. Sweet syndrome diagnosis is based on clinical, histological skin research laboratory (KLA, biochemical, ELISA). Currently etiotropic treatment has not been developed, applied anti-inflammatory therapy with corticosteroids and non-steroidal anti-inflammatory drugs.

Sezary Syndrome - Causes, Symptoms, Diagnosis and Treatment

Sezary Syndrome - malignant skin lesions caused by neoplastic transformation of T-lymphocytes and manifesting clinical symptoms typical triad: erythroderma, lymphadenopathy, and the presence of specific blood cells having folded nuclei. Sezary syndrome diagnosis is set based on characteristic clinical picture, based on analysis of blood cells and Sezary skin biopsy results. To determine the prevalence of malignant process is carried out a study of the internal organs. The methods of treatment of Sezary syndrome include chemotherapy, photodynamic therapy, radiation exposure, immunotherapy, treatment with retinoids.

Weak sinus syndrome - causes, symptoms, diagnosis and treatment

sick sinus syndrome (SSS, sinus node dysfunction syndrome) - rhythm disturbance caused by the weakening or cessation of function of automatism sinoatrial node. When SSS disrupted education and holding the pulse of the sinus node in the atria, which is manifested slowing of heart rate (bradycardia) and related ectopic arrhythmias. In patients with sick sinus syndrome may attack a sudden cardiac arrest.

The syndrome of sleep apnea - causes, symptoms, diagnosis and treatment

The syndrome of sleep apnea - sleep disturbance, accompanied by episodes of stopped breathing nosorotovogo lasting at least 10 seconds. The syndrome of sleep apnea can be detected from 5 to 60 and more short-term breathing stops. It is also noted snoring, restless night sleep, daytime sleepiness, decreased performance. The presence of sleep apnea syndrome is detected during polysomnography, and its causes - in otorhinolaryngology examination. For the treatment of sleep apnea syndrome, non-drug use (special oral device, oxygen therapy), medication and surgical techniques aimed at eliminating the causes of violations.

middle lobe syndrome - causes, symptoms, diagnosis and treatment

middle lobe syndrome - various pathological processes leading to stenosis of the middle lobe bronchus and secondary changes in the middle lobe of the right lung of the lung tissue. middle lobe syndrome may be asymptomatic or accompanied by low-grade fever, cough with little sputum, hemoptysis, chest pain on the affected side. Crucial in the diagnosis of the syndrome have an average share of radiological data and endoscopic picture. Depending on the cause and nature of the syndrome srednedolevogo changes in pulmonary parenchyma may be conducted conservative or surgical treatment.

Stanton-Kapdepona Syndrome - Causes, Symptoms, Diagnosis and Treatment

Stanton-Kapdepona Syndrome - genetically determined disease, which manifests itself in violation of enamel and dentin. The main complaints are reduced to the aesthetic appearance of the defect. When eruption the size and shape of the teeth are not broken. There is discoloration - enamel is painted in gray or brown. Early erasing enamel and dentine resulting in reduction of the height of the bite. Syndrome Diagnosis Stanton-Kapdepona includes an analysis of medical history, physical examination, x-rays, and EDI. In identifying the syndrome Stanton-Kapdepona shows a complex remineralizing therapy with subsequent prosthetics.

Syndrome Sturge-Weber - causes, symptoms, diagnosis and treatment

Syndrome Sturge-Weber - congenital angiomatosis, affects the skin, and organs of the central nervous system. Manifested multiple congenital facial angiomas, persistent epileptic syndrome, glaucoma, mental retardation, and other neurological and eye symptoms. During the diagnostic radiography performed cranial CT or MRI of cerebral structures, ophthalmoscopy, intraocular pressure measurement, Gonioscopy, US eyes. Treatments include anti-epileptic therapy, conservative and surgical treatment of glaucoma, symptomatic therapy. Forecast in many cases unfavorable.

Stevens-Johnson syndrome - causes, symptoms, diagnosis and treatment

Stevens-Johnson syndrome - acute bullous skin and mucous allergic nature. Proceeds on the background of the serious condition of the sick involving the oral mucosa, eyes and urinary organs. Diagnosis of Stevens-Johnson syndrome involves a thorough examination of the patient, immunological blood test, skin biopsy, coagulation. According to testimony carried radiography, ultrasound of the bladder, renal ultrasound, biochemical urine analysis, consultation with other specialists. Treatment is carried out by methods of extracorporeal blood correction, glucocorticoid and infusion therapy, antibacterial drugs.

Dry eye syndrome - causes, symptoms, diagnosis and treatment

Dry eye syndrome (xerophthalmia) - the state of insufficient moisture surface of the cornea and conjunctiva due to violation of the quality and quantity of tear fluid and instability of the tear film. Manifestations of dry eye syndrome are burning and stinging, feeling of sand in the eyes, tearing, svetofobiya, rapid fatigue when visual work, intolerant dry and dusty air. Dry eye syndrome is diagnosed based on the results of biomicroscopy, Schirmer test and Norn, fluorescein instillyatsionnoy sample tiaskopii, osmometry, crystallography lacrimal fluid cytology smear conjunctiva. As the treatment of dry eye syndrome shows preparations of artificial tears, lacrimal tract obstruction, Tarsorrhaphy, keratoplasty and transplantation of the salivary glands.

Tietze's syndrome - Causes, Symptoms, Diagnosis and Treatment

Tietze Syndrome (costochondral syndrome costal chondrite) - a disease of chondropathy group, accompanied by aseptic inflammation of one or more upper rib cartilage in their joints with the sternum. Manifested local tenderness at the site of injury, aggravated by pressure, palpation, and deep breathing. As a rule, there is no apparent reason, but in some cases there may be a connection with physical exertion, in the thorax operations, and so on. D. The disease is not uncommon in clinical practice, however, it belongs to the little-known. Tietze's syndrome is not dangerous for the life of the patient. Weather favorable. If you suspect this pathology in adults need to exclude more serious causes of chest pain. Treatment is conservative.

Tourette's Syndrome - Causes, Symptoms, Diagnosis and Treatment

Tourette's Syndrome - neuropsychiatric disorders manifested by childhood and is characterized by uncontrollable motor and vocal tics and behavioral disturbances. Tourette's syndrome is manifested hyperkinesis, cries, echolalia, echopraxia, hyperactivity, which periodically occur spontaneously and can not be controlled by the patient. Tourette's syndrome is diagnosed based on clinical criteria; with the aim difdiagnostiki conducted neurological and psychiatric examination. In the treatment of Tourette's syndrome, neuroleptics used pharmacotherapy, psychotherapy, acupuncture, biofeedback therapy; sometimes - deep brain stimulation (DBS).

Ondine's Syndrome - Causes, Symptoms, Diagnosis and Treatment

Ondine's syndrome - an extremely rare genetic disorder characterized by disturbance of self-contained breathing as a result of the abnormal reaction of the body to hypercapnia during sleep. The main symptom of this condition is an apnea during deep sleep phase, which could lead to death, with any pathological changes in the respiratory, nervous and cardiovascular systems, no morphologically. Ondine Syndrome Diagnosis is based on the results of EEG, respiration and monitoring the patient's blood oxygen saturation during sleep, molecular genetic analysis and study of family history. No specific treatment of the disease does not exist, use mechanical ventilation during sleep and implanted phrenic nerve stimulator.

Felty's syndrome - Causes, Symptoms, Diagnosis and Treatment

Felty's syndrome - syndrome, including the basic triad of symptoms: Rheumatoid arthritis, splenomegaly and leukopenia. In addition to these symptoms, for Felty's syndrome accompanied by fever, muscle atrophy, pigmentation and skin ulcers on the lower legs, poliserozita, polyneuropathy, episcleritis, lymphadenopathy, hepatomegaly, prone to infectious diseases. In the diagnosis of Felty's syndrome crucial importance to the presence of a history of rheumatoid arthritis and laboratory parameters (high titers of RF, leukopenia, neutropenia, thrombocytopenia, and others.). Treatment algorithm with Felty syndrome include corticosteroids (salts of lithium or gold, D-penicillamine), plasmapheresis; splenectomy.

Fuchs syndrome - causes, symptoms, diagnosis and treatment

Fuchs syndrome - a form of chronic iridotsiliarnoy dystrophy, which is characterized by monocular corneal lesion to form precipitates. The main symptom of stage I - heterochromia irises. In stage II-III patients reported decreased visual acuity and the appearance of "fog" in front of his eyes. Diagnosis Fuchs syndrome involves performing external examination, biomicroscopy, gonioscopy, keratoesteziometrii, tonometry, visometry, ultrasound B-mode. On stage I treatment is needed. In stage II-III shown dedistroficheskaya therapy, consisting of a course of corticosteroids, angioprotectors, vasodilators and neuroprotective drugs and multivitamin complexes.

Hunter syndrome - causes, symptoms, diagnosis and treatment

Hunter syndrome - an inherited disorder of metabolism with an X-linked recessive mode of inheritance, characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase and accumulation of mucopolysaccharides in the tissues. In Hunter syndrome marked growth retardation, macrocephaly, deformation of osteoarticular apparatus, skin lesions, cardiovascular and respiratory systems, hepatosplenomegaly, hearing loss, mental retardation. With a view to the diagnosis of Hunter syndrome is consulted genetics, definition excretion of glycosaminoglycans, radiography of bones and joints. Patients with Hunter syndrome is a life-long therapy with fermentozameschayuschaya elapraza.

Chronic fatigue syndrome - causes, symptoms, diagnosis and treatment

For chronic fatigue syndrome include permanent physical and mental weakness, arisen for an unknown reason and continues for more than six months. The first diagnosis of chronic fatigue syndrome was made in 1988. It is believed that he had met before, with about 30-ies of the XX century, but was not considered a disease and is not classified. Perhaps some cases of chronic fatigue syndrome attributed to unusually occurring infectious diseases. Now consider that the occurrence of chronic fatigue syndrome is caused by the acceleration of the pace of life and increasing the flow of information to be perceived by the person.

Syndrome Churg-Strauss - causes, symptoms, diagnosis and treatment

Churg-Strauss syndrome - inflammatory and allergic defeat of small and medium-sized vessels (capillaries, venules, arterioles), proceeds with the formation of necrotizing eosinophilic granuloma. For Churg-Strauss syndrome is characterized by hypereosinophilia, defeat broncho-pulmonary system, heart, gastrointestinal tract, central and peripheral nervous system, skin and joints. The diagnosis of Churg-Strauss syndrome is based on data from medical history, clinical presentation, laboratory tests, X-rays of the chest, lung biopsy. As a primary therapy Churg-Strauss syndrome shows the assignment of systemic glucocorticosteroids and cytostatics.

Mixed connective tissue disease - causes, symptoms, diagnosis and treatment

Mixed connective tissue disease - a systemic disease polisindromnoe combining individual manifestations of systemic lupus erythematosus, dermatomyositis, scleroderma. Mixed connective tissue disease occurs with joint, muscle, skin, visceral symptoms, Raynaud's syndrome and Sjogren's. Sharp syndrome diagnosis can be established in the presence of blood in patients of autoantibodies to ribonucleoprotein - immunological disease marker. Treatment Sharp syndrome responds well to glucocorticosteroid therapy. The disease is relatively benign and does not usually lead to severe destructive lesions.

Diamond Syndrome Shvahmana - causes, symptoms, diagnosis and treatment

Shvahmana-Diamond syndrome - a genetic disorder, manifesting secretory pancreatic insufficiency, bone marrow disorders and severe hematological changes. The first symptoms (diarrhea, flatulence, loss of appetite, dystrophy, skeletal deformity, anemia and so on. N.) Recorded on the 5-6 month during the introduction of complementary foods. Basic diagnostic measures: biochemical and general analysis of blood and stool, hormonal tests, ultrasound, CT and MRI scans of the abdomen, x-ray of the skeleton. Treatment is aimed at the elimination of the clinical signs and the maintenance of life.