Arakhnodaktiliya is the congenital deformation of fingers of a brush which is shown their lengthening, thinning and a characteristic curvature. Is a symptom of some hereditary diseases, it is usually combined with lengthening of tubular bones, other deformations of a skeleton, changes from eyes and cardiovascular system. The diagnosis is exposed on the basis of data of local survey. For definition of the main pathology the comprehensive examination including the general survey, studying of genealogical data, a number of analyses and hardware researches is conducted. Treatment of an arankhodaktiliya is not required, at identification of other violations symptomatic therapy is appointed, reconstructive operations are carried out.
Arakhnodaktiliya (in translation from Latin "spidery fingers") – a syndrome which is observed at some hereditary diseases connected with a metabolic disorder. The first description of this pathology which is combined with other characteristic changes of a skeleton belongs to 1876. In 20 years the French pediatrician Marfan published researches in which described similar violations at the five-year-old girl. The disease became known under the name "Marfan's syndrome". In the subsequent it was established that the arakhnodaktiliya is hereditary pathology of connecting fabric and it can be found not only at Marfan's syndrome, but also at some other rare hereditary syndromes.
Most often characteristic change of a shape of fingers is observed at Marfan's syndrome along with other changes of a skeleton enters a clinical picture of a gomotsistinuriya. There is also a number of so-called marfanopodobny syndromes – hereditary diseases which are followed by an arakhnodaktiliya and resemble Marfan's syndrome superficially, but differ on manifestations from internals. The syndrome of dilatation and stratification of an aorta, a syndrome of an ektopiya of crystalline lenses and some other rare genetic diseases belongs to number of the pathologies which are combined with an arakhnodaktiliya.
It is supposed that the reason of development of a syndrome of Marfan and other syndromes at which there is an arakhnodaktiliya is the violation of synthesis of protein caused by similar genetic mutations. At Marfan's syndrome the autosomno-prepotent type of inheritance is noted, at a gomotsistinuriya – autosomno-recessive. Besides, the arakhnodaktiliya can be result of spontaneous genetic mutations.
Pathology is shown by characteristic changes of a form and the sizes of a brush. Fingers disproportionately thin in comparison with a palm, excessively long, curved, with typical deformation in interphalanx joints. All listed manifestations give to the patient's brushes a peculiar look because of which deformation received the name of "spidery fingers". Excessive mobility of fingers is found in some patients along with unusual appearance – one or several of them can deviate on 180 ° in the back. Usually lengthening of fingers is followed by other pathological changes from a skeleton, eyes and internals. The nature of changes is defined by type of a hereditary disease.
At Marfan's syndrome all tubular bones extended, hands and legs disproportionately thin and long. Because of weakness of the copular device often there is an excess mobility of joints. Muscles are atrophied and almost imperceptible under skin, the fatty layer is almost not expressed. The head is increased in a size, the skull is extended, the nape is flattened, a forehead high, with pronounced frontal hillocks. The lower jaw is stuck out kpered or, on the contrary, is poorly expressed and looks underdeveloped. The backbone curvature, a flat basin, keeled deformation of a breast or a funneled thorax is found in patients. The expressed flat-footedness is observed.
Along with an arakhnodaktiliya and other changes of bone and muscular system pathology from eyes comes to light and cardiovascular system. Sklera bluish, short-sightedness, dislocation of a crystalline lens is noted. Aneurism of an aorta and various heart diseases is often diagnosed. Degree of expressiveness of various pathological changes at an arakhnodaktiliya can vary considerably – from weak, with lack of a row or the majority of signs, to heavy, with violation of ability to self-service and the adverse forecast for life.
Gomotsistinuriya and Marfan's syndrome are almost identical on external manifestations: at a gomotsistinuriya the expressed arakhnodaktiliya, lengthening of tubular bones, deformation of a thorax, a basin and a backbone, violation is also observed from cardiovascular system and from eyes. Along with it, at a gomotsistinuriya the arakhnodaktiliya is combined with osteoporosis and violations of psychological activity: decrease in IQ till 32-72 units (it is normal of 85-115 units), the low working capacity, problems when switching attention, the noncritical relation to the opportunities simplified by the speech, a dislaliya and weakening of a mimicry.
The diagnosis of this or that disease which is followed by an arakhnodaktiliya is exposed on the basis of external survey and a number of tool researches. Assessment of a condition of bone and muscular system is made during survey of the orthopedist. In need of the patient with an arakhnodaktiliya direct to consultations to the neurologist, the cardiologist and the ophthalmologist. Basic inspection for definition of expressiveness of violations from the musculoskeletal device usually includes a X-ray analysis of a thorax, a basin and a backbone. For specification of nature of pathological changes on indications the stsintigrafiya of a skeleton, KT and MPT is carried out.
At suspicion from cardiovascular system the cardiologist can appoint to violations ultrasonography of heart and vessels, a tomography of vessels and some other researches. The neuropathologist carries out special tests, can direct the patient to MRT of a brain, backbone KT, an electroencephalography, a rheoencephalography and so forth. The ophthalmologist carries out survey of structures of an eye, in the presence of indications measures intraocular pressure, appoints optical, ultrasonic and other researches.
In the course of inspection perform differential diagnostics of an arakhnodaktiliya at a gomotsistinuriya and Marfan's syndrome. Spasms and weak-mindedness are characteristic of a gomotsistinuriya, at Marfan's syndrome the intelligence is kept, the convulsive syndrome is absent. At a gomotsistinuriya the incomplete dislocation of crystalline lenses is noted from top to bottom, damage of eyes has the progressing character, secondary glaucoma develops over time. The incomplete dislocation of crystalline lenses up is found in patients with Marfan's syndrome, short-sightedness proceeds more favorably, secondary glaucoma is not found.
At a gomotsistinuriya osteoporosis is observed, less expressed flat-footedness and moderate or insignificant excess mobility of joints, comes to light damage of arteries of average caliber (kidney, brain, coronal), at Marfan's syndrome osteoporosis is absent, flat-footedness and excess mobility of joints are expressed more brightly, pathology of heart and large vessels prevails. Gomotsistinuriya is more often diagnosed for blondes with light skin and blue eyes, Marfan's syndrome – at enough swarty brunettes. At a gomotsistinuriya in urine and biochemical blood test the increased content of methionine and decrease in level of cystine is defined, it is found , at Marfan's syndrome the listed changes are absent.
Treatment of an arakhnodaktiliya
Treatment is symptomatic. At Marfan's syndrome for normalization of a metabolism appoint high doses of vitamin C and anabolic steroids. Prescribe patients with an arakhnodaktiliya at a gomotsistinuriya a special diet with restriction of amount of animal protein, high doses of vitamins of group B and small doses of the medicines interfering fibrillation (aspirin). Patients with an arakhnodaktiliya regardless of the reason of its emergence are on constant dispensary observation, according to indications go to LFK, massage and sanatorium treatment. At pathology, the life-endangering patient and significantly worsening his state, various operations are performed: prosthetics of heart valves, prosthetics of an aorta, reconstruction of a chest wall at a funneled and kileobrazny thorax.