AMAUROTIC IDIOCY (Greek amauros — dark, blind and idiuteia — ignorance) — group of the hereditary diseases which are characterized by the progressing decrease in sight and intelligence in combination with other neurologic symptoms. Distinguish the following forms A. and.: an inborn form of Normen — Wood; an early children's (infantile) form — a disease Teja — the Saxophone; a late children's form of Bilynovsky — Yansky; a youthful form of Batten — Shpilmeyera — Vogt; late form of a disease of Kufs.
And. and. — hereditary diseases with an autosomal and recessive mode of inheritance (see. Inheritance ). Most often the amaurotic idiocy Teja — the Saxophone meets. By many authors it is noticed that this form A. and. it is found among Jews more often. According to Miriantopulos (N. Page of Myrianthopoulos, 1962), the frequency of a disease of this form of children in the USA made 1 on 6000 among Jews and respectively 1 on 500000 among the non Jewish population.
At all forms A. and. there are similar pathomorphologic changes in a brain. Increase in a brain and along with it a diffusion atrophy of certain areas is macroscopically noted, is more often than a cerebellum, occipital shares of big hemispheres. Histologically the picture of generalized disintegration of ganglionic cells of a nervous system is found that is especially expressed at an amaurotic idiocy Teja — the Saxophone. The degeneration of neurons is shown by increase in their size and characteristic swelling, ballonoobrazny inflation of cells and their shoots. At the same time cells are filled with fine-grained substance of lipoid character. Kernels of cells shrivel, get out of the shape and move to the periphery. Neurofibrilla and glybk of basphilic «tigroid» substance completely breaks up. The degeneration takes also gliozny elements. In hard cases there is demyelination and destruction of many axons that, apparently, has secondary character owing to accumulation of lipids.
It is established that at And. and. there is a deep disturbance of lipidic exchange. The amaurotic idiocy Teja — the Saxophone is fullestly studied, to-ruyu carried to group of intracellular lipoidoses. Klenk (E. Klenk, 1939, 1942) noted at a disease Teja — the Saxophone increase in a brain of glycolipid ganglioside. Normen (R. The m of Norman, 1963), the Screw (L. Schneck, 1969), Suzuki (Y. Suzuky, 1971) revealed increase in maintenance of gangliosides in a liver, a spleen, erythrocytes of blood that demonstrated generalized disturbance of exchange of gangliosides. Disturbance of metabolism of a ganglioside of GM2 is connected with absence or falloff of content of enzyme geksozaminidazy-A (the Screw, 1970; Suzuki, 1971). Lack of this enzyme is noted already at an embryo on 18 — the 20th week. At heterozygous carriers of a gene of an amaurotic idiocy Teja — the Saxophone is marked out moderate decrease geksozaminidazy-A.
Features of disbolism at other forms A. and. and whether, in particular, is for them disturbance of biochemical processes primary, precisely is not established yet. It is supposed that at an inborn form of Normen — Wood adjournment of a ganglioside like GM3 [Osetovskaya takes place (E. Osetowska, 1968)]. At a juvenile form of Batten — Shpilmeyera — Vogt, according to a number of authors, gangliosides in mixes with cholesterol and lipopigment like lipofuscin collect.
Inborn form of Normen — Wood it is shown in the first days or weeks after the birth. Hydrocephaly or a nanocephalia, spasms, paralyzes, disorders of breath, swallowing are found in the child. The lethal outcome usually comes in the first months of life.
Early children's (infantile) form — a disease Teja — the Saxophone — begins at the age of 4 — 6 months. Often the disease has family character. Early decrease in sight is found. The child cannot fix a look, does not watch toys. Early enough on an eyeground the symptom of «a cherry stone» — the cerise speck in macular area surrounded with a grayish-white rim is found. In the subsequent the atrophy of optic nerves and a total blindness develops. Orientation and defense reactions disappear. Motive disturbances lead to a full obezdvizheynost. At a disease Teja — the Saxophone is observed a symptom of the increased reaction to sound irritations — children sharply shudder from a usual sound, the spasms having preferential tonic character can be noted. In a final stage of a disease the cachexia and a condition of a cerebrate rigidity develops. Death comes on average through 11/2 — 2 years later began diseases.
Late children's form of Bilshovsky — Yansky begins in 3 — 4 years. The current progressing with remissions. The accruing organic dementia is combined with the general convulsive attacks, an ataxy, extrapyramidal frustration. On an eyeground the atrophy of optic nerves comes to light. Some authors deny nosological independence of a late children's form of Bilshovsky — Yansky and consider cases of this disease as manifestation early of the beginning juvenile form of Batten — Shpilmeyera — Vogt pl as later options of a disease Teja — the Saxophone. The lethal outcome in most cases comes at the end of the first decade of life.
Youthful form of Batten — Shpilmeyera — Vogt begins at the age of 6 — 10 years, it is characterized by slowly progressing current. The picture of an eyeground often corresponds to a pigmental retinitis. The disease begins with gradual falling of sight and the accruing dementia. Changes in motive system can be various and non-constant: unsharply expressed tetraparesis, extrapyramidal and bulbar disturbances are observed. The epileptiform syndrome is frequent. The disease comes to an end with death on 2 — the 3rd decade of life.
Late amaurotic idiocy of Kufs it is observed extremely seldom, arises at mature age and it is characterized by a sluggish current. Changes of the personality as an organic mental syndrome develop. On an eyeground the picture of a pigmental retinitis with an atrophy of optic nerves comes to light. In a late stage of a disease paralyzes and an epileptiform syndrome develop. Patients usually perish within 10 — 15 years from the beginning of a disease.
Mental disorders at different forms A. and. have the distinctions partly connected with age features.
At an inborn form of Normen — Wood in the first weeks of life the stop of psychological development is observed.
At an early children's form Teja — the Saxophone the children who were normally developing before rather quickly become sluggish, lose interest in surrounding, cease to recognize relatives. There is a fading out of the acquired movement skills and the speech. Within several months, up to 2 years more rare, deep weak-mindedness like an idiocy develops.
At a late children's form of Bilshovsky — Yansky mental degradation happens more slowly, than at an early children's form. The wavy current with the periods of deterioration (in the form of slackness, apathy, devocalization) and improvements can be observed (with partial recovery of activity). In a final stage deep weak-mindedness with loss of the speech and skills of self-service takes place.
At a youthful form of Batten — Shpilmeyera — Vogt slowly increasing slackness, apathy, depletion of the speech are observed. The intellectual decrease which however is seldom reaching degree of an idiocy, disturbance of memory is more and more noticeable. The dysarthtia joins, writing skills and readings are broken. In a final stage the expressed organic dementia is observed.
At a late form of Kufs mental disorders differ in the greatest variability. The slowest rate of progressing is characteristic of it. Initial manifestations are expressed by changes of the personality as decrease of the activity, narrowing of a focus of interest. Several years later more and more noticeable there is a progressing decrease in intelligence up to organic dementia with apathy or easy euphoria, loss of skills of self-service. Cases with hallucinatory-dilision and catatonic frustration, and also a form with rather safe intelligence are described.
the Diagnosis and the differential diagnosis is based on a typical clinical picture and specific changes of an eyeground.
The infantile form Teja — the Saxophone has some common features with a disease of Landinga (system late nurseries GM1 ганглиозидозом) and mukopolisakharidozy type Gurler (gargoilizm). The disease of Landinga is described under the names «biochemical special form of an infantile amaurotic idiocy», «disease Teja — the Saxophone with damage of internals», «option of a syndrome Gurler», «family neurovisceral lipoidosis». The disease of Landinga begins in the first months of life and comes to an end with death at the age of 2 — 3 years. The cerise speck on an eyeground happens in 20% of cases, the amaurosis and a hyperacusia meet seldom, the gepatosplenomegaliya, mental and motive disturbances is noted. The juvenile amaurotic idiocy of Batten — Shpilmeyera — Vogt sometimes needs to be differentiated with Laurence's syndrome — Muna — Bidl at whom are observed sharp obesity, a polydactylia, the expressed vegetative and trophic disturbances and often there are no changes in the motive sphere. Polymorphism of symptomatology of a late form of Kufs complicates intravital diagnosis of a late form which should be differentiated with Fridreykh's ataxy, multiple sclerosis, Alzheimer's disease, a disease of Peak, a general paralysis, and sometimes with schizophrenia. In some cases separate forms A. and. it is necessary to differentiate with leukodystrophy (see).
Specific treatment A.i. it is not developed. Sedatives, neuroleptics, anticonvulsants, fortifying are applied. Some effect can be gained from use of fabric extracts, hemotransfusion and plasma.
establishment of a heterozygous carriage of a mutant gene at parents of patients is possible. At a disease Teja — the Saxophone the heterozygous state comes to light by a research of a lipidic range of erythrocytes (decrease in sphingomyelin and kephalin) and a research of enzyme geksozaminidazy-A, at heterozygous carriers of a gene of a disease of Batten — Shpilmeyera — Vogt — a blood analysis (vakuolinizirovanny leukocytes) and a research of lipids of erythrocytes (decrease in sphingomyelin). In case of pregnancy of the woman, heterozygous on a gene of an amaurotic idiocy Teja — the Saxophone, the research geksozaminidazy-A in the amniotic fluid received on 18 — the 20th week of pregnancy is reasonable. At considerable decrease geksozaminidazy-A abortion is shown.
Badalyan L. O., Tabolin V. A. and Veltishchev Yu. E. Hereditary diseases at children, page 82, M., 1971; Gerber E. L. and Moshkovskaya R. D. Late form of an amaurotic idiocy, Saturday. nauch. works, posvyashch. to the 150 anniversary Mosk. psikhonevrol.-tsy No. 3, century 4, page 365, 1963; Mnukhin S. S. Amaurotic idiocy, Mnogotomn. the management on nevrol., under the editorship of S. N. Davidenkov, t. 7, page 366, L., 1960; Bergener M. u. Jungklaass F. To. Beitrag zur Klinik und Genetik der amaurotischen Idiotie (Spätinfantile und Spätform) unter besonderer Beriicksichtigung diagnostischer und differentialdiagnostischer Probleme, Nervenarzt, S. 316, 1968; Cerebral sphingolipidoses, ed. by M. A. Stanley a. B. W. Volk, N. Y. — L., 1962, bibliogr.; Jatzkewitz H. Evidence for metabolic blocks in sphingolipidoses, Proc. 5-th int. congr. neuropathol., p. 417, Amsterdam a. o., 1966; Schettler G. Gangliosidosen, Handb. inn. Med., hrsg. v. G. Bergmann u. a., Bd 7, T. 2, S. 657, V. u. a., 1955, Bibliogr.; Schneck L. Volk B. W. a. Saifer A. The gangliosidoses, Amer. J. Med., v. 46, p. 245, 1969, bibliogr.; Stanbury J. Century and. lake of The metabolic basis of inherited disease, N. Y. a. o., 1966; Suzuku J. Y. a. o. Gm2-gangliosidosis with total hexosaminidase deficiency, Neurology (Minneap.), v. 21, p. 313, 1971, bibliogr.
L. O. Badalyan; V. V. Kovalyov (psikhiat.).