MARINESKU-SHEGRENA SYNDROME

From Big Medical Encyclopedia

MARINESKU-SHEGRENA SYNDROME ( G. Marinescu , Romanian neuropathologist, 1864 — 1938; To. G. T. Sjogren, Swedish psychiatrist and neuropathologist, sort. in 1899; Marinesku's synonym — Shegrena — Garland a syndrome; Marinesku — Draganesku — Vasiliu a syndrome) — the rare hereditary disease with an autosomal and recessive mode of inheritance which is characterized by an inborn bilateral cataract, an oligophrenia and a back and cerebellar ataxy. G. Marinesku with soavt, in 1931 and Shegren in 1935 is described. In total it is described apprx. 60 cases of M. — Sh. by page. For transfer the consanguineous relation of parents by inheritance matters. Equally often men and women get sick.

Patomorfol, changes of a nervous system are not specific: in a cerebral cortex the atrophy of ganglionic cells and depression of the myelinized fibers, in a cerebellum — a massive atrophy of bark and disintegration of pear-shaped neurocytes (Purkinye's cells) is noted.

Clinically M. — Sh. is shown by page at early age. There is a blindness owing to bilateral cataracts (see), coordination of movements is broken (see. Ataxy ), lag in intellectual development comes to light later (see. Oligophrenias ). Non-constant signs are: low growth, anomalies of a skeleton (a rachiocampsis, a nanocephalia, a dolichocephalia), weakness of muscles of extremities, pyramidal symptoms, the meeting squint, a nystagmus, etc. The current which is slowly progressing.

Symptomatic treatment.

Forecast adverse.


Bibliography: Abramovich G. B. and Kharitonov R. A. Sindr Marinesko — Shegrena, Zhurn, a neuropath, and psikhiat., t. 64, No. 7, page 1028, 1964; P about p e with to at the Lake. Syndromes in pediatrics, the lane from Romanians., page 255, Bucharest, 1977; Alter M., Talbert O. R. a. Croffead G. Cerebellar ataxia, congenital cataracts and retarded somatic and mental maturation of cases of Marinesco — Sjogren syndrome, Neurology (Minneap.), v. 13, p. 836, 1962; Garland H. Moor house D. Extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract and other features, J. Neurol. Neurosurg. Psychiat., v. 16, p. 110, 1953; Marinesco G., Draganesco S. et Yasiliu D. Nouvelle maladie fami-liale caracterisee par une cataracte congeni-tale et un arret du developpement somato-neurophysique, Encephale, t. 26, p. 97, 1931; Ron M. A. a. P e a r with e J. Marinesco — Sjogren — Garland syndrome with unusual features, J. neurol. Sci., v. 13, p. 175, 1971; Sjogren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia, Confin. neurol. (Basel), v. 10, p. 293, 1950.


Yu. K. Milovidov.

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