REFSUMA SYNDROME (S. B. Refsum, Norwegian neuropathologist, sort. in 1907; synonym: Refsuma disease, hereditary polyneuropathic ataxy) — the hereditary disease which is characterized by hl. obr. defeat of a peripheral nervous system (polyneuropathy), cerebellar ataxy, vision disorder (pigmental dystrophy of a retina).
Refsumom is for the first time described in 1945. It is inherited on autosomal recessively type, cases of a consanguineous relation of parents of patients are frequent. The pathogeny is finally not studied. At a biochemical research increase in contents fitanovy to - you (20-carbon fat to - you with a branched chain) in blood and its considerable accumulation in a peripheral nervous system, a head and spinal cord, a liver, kidneys, heart and other bodies comes to light that allows to carry this disease to group of hereditary lipidoses (see).
In a nervous system find the widespread degenerative changes which are localized preferential in nerves, their roots, cells of front horns of a spinal cord, cerebellar ways and a retina of an eye. Also the thickening of a soft meninx is noted.
Wedge, picture it is various. The disease can come to light at children and at adults, usually aged up to 40 years. As a result of defeat of a peripheral nervous system — a polyneuropathy (see. Neuropathy ) — there are paresthesias in legs (see. Paresthesias ) also the bilateral paresis of razgibately foot leading to change of gait develops. Cerebellar is observed ataxy (see), the intelligence is broken. As a result of development of pigmental dystrophy of a retina (see. Tapetoretinaljny dystrophies ) and a partial atrophy of optic nerves sight considerably worsens. Also deformation of foot (hollow foot), loss of sense of smell, deafness (as a result of damage of acoustical nerves), changes of skin on type is quite often observed ichthyosis (see) and damages of heart in a look cardiomyopathy (see). At a research of cerebrospinal liquid proteinaceous and cellular dissociation is noted. The course of a disease which is slowly progressing times stationary.
Diagnosis establish on the basis of characteristic a wedge, pictures, data of a research of an eyeground, cerebrospinal liquid, electro-miograficheskikh signs of a neuropathy.
Differential diagnosis carry out with hypertrophic neuritis of Dezherin — Sotta (see. Dezherina — Sotta hypertrophic neuritis ), to-ry the page patol differs in big prevalence from R. process and the expressed hypertrophy of nervous trunks, and also with neural amyotrophy of Sharko — Mari — Here (see. Amyotrophy ) and a syndrome of Russia — Levi, for to-rykh damages of eyes, a myocardium and leather (ichthyosis) are not characteristic.
Treatment symptomatic, fortifying, apply vitamins of group B, antikholinesterazny drugs (prozerin, Galantaminum, etc.), massage, remedial gymnastics. At paresis of razgibately foot it is recommended to wear orthopedic shoes. The patient appoint a diet with restriction of the foodstuff containing a chlorophyll (salad, green onions).
Forecast for life in general favorable. However at damage of heart cases of sudden death were observed.
Bibliography: Makkyyusik V. A. Ancestral features of the person, the lane with English, page 528, M., 1976; X about d about with about in - Skye S. V. and Yuratsky E. G. Sindr Refsuma, Zdravookhr. Belarus, No. 3, page 63, 1981; Shevchenko A. M. To clinic and a pathogeny of a syndrome Refsuma, Zhurn. neuropath, and psikhiat., t. 77, century 6, page 832, 1977; Handbook of clinical neurology, ed. by P. J. Vinken a. G. W. Bruyn, v. 21, p. 187 a. o., Amsterdam a. o., 1975, bibliogr.; Quin lan C. D. a. Martin E. A. Ref-sum’s syndrome, J. Neurol. Neurosurg. Psychiat., v. 33, p. 817, 1970; Ref-s u m S. Heredopathia atactica polyneu-ritiformis familial syndrome, Acta psychiat. (Kbh.), suppl. 38, p. 1, 1946.
P. A. Tkachyov.