Eidy syndrome in neurology: diagnosis, reasons, treatment. EDDI syndrome

The date: 19.07.2019

Book: "Rare neurological syndromes and diseases" (V.V. Ponomarev)

Chapter 1. Eddi Syndrome

EDI syndrome (synonyms: pseudotabetic syndrome, Weyl-Ray syndrome, Kerera-Edi syndrome, Holmes-Edi syndrome) for the first time, was described by W. adie in 1931 and refers to the number of rare neurological syndromes. Basic clinical manifestation Eddi syndrome (SE) is a myotonic type pupil reflexes: slow down or the lack of a reaction of the pupil into light while maintaining (or minor slowdown) reactions to accommodation and convergence. The pupil's myotonic reaction can be one-sided or bilateral, wearing a transient or persistent character. The affected pupil is in the state of mydriasis, an anisocorium arises due to this. Pupil slowly narrows under the influence pharmacological means (Pilocarpine). The violation of the pupil reactions at EC is combined with the derflexia of the knee and achilla reflexes. Separate manifestations of the disease can be expressed to varying degrees, depending on this allocate the total and incomplete form of SE.

Etiology and pathogenesis of SE have not been studied. In the literature there is an indication of the herpetic etiology of the disease, subject to the persistence of the virus simple herpes in sensitive and vegetative neurons. There is an opinion on the autoimmune character of the SE due to the production of specific autoantibodies and the combination of his Miastenia.
The nosological affiliation of the SE in the literature is discussed. The syndrome is described in cranking and brain injury, diabetes, alcoholism, metabolic disorders, endocrine (adrenal) insufficiency, SHEGREEN syndrome, VDP. According to E. P. Kharitonova, SE often accompanies various disorders sympathetic innervation Eyes, more often the women suffer.

We observed 6 patients with SE (3 men, 3 women, age - 25-61 years). In one case, this syndrome developed as the first manifestation of chronic VDP. We give observation.

Patient K., 25 years old, Adjustable, 6 months after a series of stresses, noticed general weakness, increased fatigueAnd after 3 months an expansion of the left pupil joined.

In the neurological status, the pronounced game of vasomotors, anisocorium, S\u003e D, myotonic (straight and cross) reaction of pupils on light, worse than the left was determined. The reaction of pupils to the accommodation and the convergence of the alive, eye disorders. The force in the limbs is sufficient, knee reflexes brake, there are no Achilles. The sensitivity on the limbs is not broken.

During the examination: Eye bottom normally. ENGM: a minor decline in M-replies in the study of the median, small-terber, tibial nerves, the speed of the pulse according to the nerves under study normally. SMG: protein 3.9 g / l, cytosis 48-106 cells / l (100% lymphocytes). Pneumoencephalography: a narrow ventricular system is revealed. Carotid angiography on the left without pathology. Diagnosed by Eddi syndrome.

Obtained prednisone at a dose of 40 mg / day every other day. A month after discharge to the above described clinical picture The painful convulsions joined ion muscles, weakness, rapid weight loss of the leg muscles and the asymmetry of the face. In neurological status, an aisocorium, s\u003e d and a myotonic reaction of pupils are preserved. Diplegia Facialis appeared, light distal pares of hand and moderate weakness of the legs, diffuse muscle hypotension and hypotrophy of the limbs. Tender-periosal reflexes in the hands of reduced, knee, Achilles are absent. Surface sensitivity is changed through a distal type, a deep-haired feeling in the footsteps is broken. Palpation pain nerve trunks On the legs, positive symptoms of root tension. SMG: protein 2.36 g / l, cytosis 51 - 106 cells / l (100% lymphocytes), the reaction of the vasserman in the CMZ negative. Vibration sensitivity revealed Palgipestsey in all points of research. OD / OS \u003d 0.7 / 0.3 visual acuity (alcohol astigmatism), the eye is normal. Prednisolone is assigned in a dose of 80 mg / day. Despite the treatment, the condition continued to deteriorate. Weakness in the limbs to the degree of moderate distal passage of hands and spheres in the footsteps. In the SOD, the protein increased to 4.04 g / l, the lymphocytic plea) was maintained (42-106 cells / l). After 6 months, against the background of continued therapy, the prednisone has been stabilization of the process. With katamnestic observation for 8 years, the patient's condition is not changed, the sluggish distal tetrapapes is preserved, there are no knee and achilles reflexes, anisocoria, S\u003e D, the myotonic reaction of the left pupil to the light is set, the I group of disability is installed.

The above observation is of interest from the point of view of the debut of the disease in the form of EDI syndrome. Distribution of the demyelinizing process on the roots and the nerves of the limbs, facial nerves allowed to diagnose chronic VDP. The existing protein-cell dissociation in the SMM indicated the activity of the process, the possibility of its further increase, which confirmed the observation of the patient.

Topical lesion nervous system The EF is not completely installed. Currently, the anisocorium and changing the pupil reflexes are explained by the selective damage to the parasympathetic progenglyonary and postganglyonic fibers of the glasses. A differential diagnostic test with measuring the diameter of the pupil 30 minutes after the injection of 0.1% of the pylocarpine solution is proposed. Most authors emphasize the presence of vegetative dysfunction (up to 40%) in the form of a violation of sweating, changes in vasomotor and cardiovascular reflexes of parasympathetic type. As a rare vegetative disorder, the resistant cough is described, the cause of which, according to J. Kimber et al., There may be a defeat of afferent and efferent paths. wandering nerve . These vegetative violations are associated with the symptoms of disavtonomy, which also takes place under Guillana Barre syndrome. The cause of hydraulic acid during the SE is discussed in the literature. According to P. Martinelli et al. and G. Paveri et al. , Areflexia may be associated with the selective lesion of monosynaptic afferent conductors or with dysfunction of somatosensory fibers of a large diameter at a spinal level.

The differential diagnosis of SE is carried out with neurosimifilis (Ardzhil Robertson syndrome), the effects of eye injury, intracranial hematoma.

Specific treatment of SE is currently not developed. As symptomatic therapy, we can recommend vegetotropic agents, electrophoresis with a 10% solution of calcium chloride in Burguignon. In the case of an installed autoimmune nature, it is preferable to prescribe prednisone (or its analogs) at a dose of 1 mg per 1 kg of body weight (usually 60-80 mg) according to an alternating scheme every other day.

Thus, the issues of diagnosis and treatment of SE are not finally clarified, and only modern methods Surveys, accumulation of actual material will contribute to solving them.

Etodermal dysplasia is a rare and poorly studied genetic and even an ordinary doctor will not always be able to diagnose the disease and designate suitable treatment. Full information Only genetics doctors can submit.

The concept of "dysplasia" implies any violation, incorrect development. It combines everything congenital villocks In the development of organs and tissues, which occur still in the process of growth inside the mother.

ETTODERM is the most external outdoor embryonic leaflet on the most early stages intrauterine development. First, the ectoderma consists of one single cell layer, which are subsequently differentiated into separate primitives and further form certain tissues of the human body.

It turns out that ectodermal dysplasia is a genetic violation of the development of those elements, of which teeth, nails, hair, mucous membrane and mouth, as well as sweat and sebaceous glands are formed.

On this moment There are many varieties of ectodermal dysplasia and each of the species has a certain set of symptoms from the lungs to heavy.

However, the most common are considered:

hypohyidrotic ectodermal dysplasia
anhydrotic ectodermal dysplasia

These forms have different foci of localization and symptoms, but largely similar.

Symptoms and reasons

Symptoms of the disease appear already in breastAnd the main ones are the following:

ladder and depletion of the skin: it becomes wrinkled and dry, it is very peeling, especially thin around the mouth and eyes, as well as in these areas it can be a little darker
the teeth are cut down later than in healthy children, they can be a conical shape, their number is reduced, and in rare cases they may not be completely absent, between the teeth has large gaps
the deteriorated state of the hair cover - the hair is thin and remind of guns, very light color, they grow slowly, hair loss is also noted - either permanent, or temporary, eyebrows and eyelashes or short, bright, thinned either are completely absent
bad state of nails, they are soft, thin and fragile
due to underdevelopment sweat iron The sweating is reduced or completely absent, as a result of which dryness appears and there is a violation of thermoregulation, causing the heating of the body, so patients poorly tolerate heat
due to the violation of the development of the glanes, the sickness constantly feels dryness due to the fact that the saliva stands out poorly, also dryness in the nasal cavity and suffers from the "dry eye" syndrome - since the glands do not emit liquid, patients cry without tears
possible deformation of the ears - they are elongated and a little pointed up
language can be deformed - it is enlarged, folded and dry, and on his back can be formed by the employed raid
low growth
features of the structure of the face: Big forehead with protruding frontal strumies, spawned nose, spawned cheeks, small nose, full, slightly twisted lips
reduced immunity, due to bad work mucosa. Special tendency to rhinitis, sinusitis, frontititis and sharp respiratory
possible delay mental Development, reduction of intelligence, but this is far from always and many suffering from this disease have normal development
very scanty shatter or its complete absence in areas under the mouse and on the pubis

The causes of the disease are quite blurred and not yet sufficiently studied even in modern medicine, due to the rarity of the illness.

it hereditary diseasecaused genetic violation At the stage of development. It is also known that the anomaly is transmitted recessively through the X-chromosoma, that is, the carrier most often becomes a woman, and it conveys the disease to her child, mostly male.

Diagnostics

Despite the greater rarity of the disease, an experienced specialist will certainly be able to diagnose enough.

Since the symptoms of of this ailment They are manifested primarily outwardly, all the signs can be seen with the naked eye by folding them into a single clinical picture.

To form a diagnosis, the following will be required:

full examination of the patient to identify characteristic signs and completion of the compilation of a complete clinical picture
pass
make an x-ray cavity chest, and ECG
carry out genetic to identify mutations in the gene
take a special sample for sweating
help skin in order to study the state of sweat glands
explore the hair structure of the patient under the microscope
conduct radiography of jaws to clarify whether there are progress of teeth orthey are absent at all

Unfortunately, if the kid has already in the process of intrauterine development, this anomaly appeared, then it is no longer possible to prevent it. However, fortunately, the presence of ectodermal dysplasia can be determined already on early timing.

The corresponding is especially important to carry out those who have already met such incidents among relatives, as well as when planning a second child, if the first suffers from this ailment.

Etodermal dysplasia is a rare and complex disease that cannot be cured. However, if it is diagnosed on time and proceed with its treatment "from all fronts", then the patient can be almost completely rid of the manifestations of the disease and discomfort, and provide him with a normal, full-fledged life.

Lateral amyotrophic sclerosis (bass) (also known as motor neuron disease disease, sharot's disease, in English-speaking countries - disease Lu Geriga) - slowly progressive, incurable degenerative disease The nervous system is unknown so far etiology. It is characterized by a progressive lesion of motor neurons, accompanied by paralysis (parisomes) limbs and muscle atrophy. At the end of the way, patients die from the refusal of respiratory muscles. Side amiotrophic sclerosis One should distinguish bass syndromewhich can accompany such diseases like tick-borne encephalitis.

Risk factors

Every year, 1-2 people out of 100,000 sick bass. As a rule, the disease amazes people aged 40 to 60 years. From 5 to 10% of the sick - carriers of the hereditary form of bass; On the Pacific Island Guam, a special, endemic form of the disease is revealed. The absolute majority of cases are not related to heredity and cannot be positively explained by any external factors (transferred diseases, injuries, ecology, etc.).

Course of the disease

Early Symptoms of Diseases: Coupling, Corps, Muscle numbness, weakness in the limbs, the difficulty of speech - also peculiar to many more common diseases, so the diagnosis of bass is difficult - until the disease is developing to the muscular atrophy stage.

Depending on which parts of the body are amazed first, distinguish

The bass of the limbs (up to three quarters of patients) begins, as a rule, from the defeat of one or both legs. Patients feel awkward when walking, inflexibility in the ankle, stumble. Less often meet upper limbsAt the same time, it is difficult to perform ordinary actions that require the flexibility of the fingers or the injury of the brush.
Bulbarium bass manifests itself with difficulty speech (the patient speaks "into the nose", hens up, poorly controls the volume of speech, in the future it is difficult to swallowing).

In all cases, muscle weakness gradually covers more and more parts of the body (patients with bulbar form bass may not live to a complete pare of limbs). The symptoms of the bass include signs of lesions of both the lower and the upper motor nerves:

the defeat of the upper motor nerves: muscle hypertonus, hyperreflexia, abnormal reflex Babinsky
the defeat of the lower motor nerves: weakness and muscle atrophy, convulsions, involuntary fasciculation (twitching) muscles.

Sooner or later, the patient loses the ability to move independently. The disease does not affect mental abilities, but leads to a serious depression in anticipation of slow death. In the later stages of the disease amazed respiratory muscles, patients experience breathing interruptions, sooner or later their life can only be supported artificial ventilation Light and artificial nutrition. Usually from identifying the first signs of bass to death, it takes from six months to several years. However, the well-known astrophysicist Stephen Hawking (born in 1942) is the only known patient, with a uniquely diagnosed bass (in the 1960s), whose condition has stabilized over time.

ADI syndrome

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Publication date: February 14, 2017

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Adi syndrome is a neurological disorder, which is characterized by a tonic pupil, slowly responding to light. The ADI syndrome is characterized by three main symptoms and signs, namely, one abnormal pupil (MIDRIAZ), which does not decrease in response to light, loss of deep tendon reflexes and a violation of sweating. Other features may include hyperforms, due to accommodation pares, light-friendly and readability. Adi syndrome does not progress and is not dangerous to life disorder.

Most people with adi syndrome, the affected pupil more than usual, it can also be normally narrowed in response to light stimulation. In some people with syndrome, however, the pupil remains less than usual. Most people with adi syndrome have bad or missing reflexes. Other symptoms and signs of a person with this syndrome include:

Headache
Facial pain
Fuzzy vision
Emotional oscillations

The disease does not progress and usually does not cause severe disability. With adi syndrome, the muscles that control the pupil remain intense. The lesions in a certain part of the cells of the third nerve can cause the loss of reflexes.

Causes of Adi Syndrome

Although accurate reason Adi syndrome remains unknown, this disease can be inherited by autosomal dominant sign.

Treatment of ADI syndrome

The diagnosis of adi syndrome can be made according to the results of the use of pylocarpine drops. Pupil in people with Adi syndrome, which is not compressed in response to the light, will be narrowed in response to Pilocarpine. Other forms of treatment may include glasses, therapy using diluted pilocarpine and some other methods.

J.W. ADIE (Eddie) described this syndrome in 1931 and it represents a combination of some ophthalmological and neurological disorders and is characterized clinical pupillotonia (pupil rigidity), abnormal reactions of pupil, lack of bone-tender reflexes (especially on lower limbs). Although in most literary sources, the author is the name of the author ("ADIE Syndrome"), the same symptomatic complex is found to described and under other names:

"WEILL syndrome" (WEIL syndrome);
"Weill - Reys" (Waire - Race),
"WEILL - RUES - ADIA" ("Wawe - Race - Eddie"),
"Adie - Holmes" ("Eddie - Holmes"),
"ADIE - KEHRER" ("Eddie - Keher"),
"Markus" ("Marcus")
"Pupillotonia ADIE",
"Pseudo - Kehrer Tabetical Pupillotonia",
"Sygromic pupil syndrome",
"False syndrome (Argyll (Egril)) Robertson (Robertson)",
helie's syndrome.

Eddie Syndrome Classification:

Eddie Syndrome is divided into congenital and acquired.

Congenital EDDI syndrome It is characterized by a violation of the achil reflex, but violation of vision when reading and other small manipulations near it is not peculiar.

Acquired by EDDI syndrome On the contrary, it is characterized by a violation of vision near, and can be corrected only by instillation of miotics. It occurs more often after suffering infections, neurological and other injuries, after serious intoxication.
Etiopathogenesis. The etiology of the syndrome is not known. It is assumed that there is a link between the appearance of this syndrome and a number of neuroeophthalmological diseases, including those who are specified: congenital myotonium, progressive muscular atrophy, some brain inflammation, eye herpes. The emergence of anomalies - at least only eye-eye - probably the consequence of changes in the tone of the vegetative nervous system.

Symptomatology

1. Eye disorders.

Pipple rigidity (pupillotonia); The pupil is constantly expanded, and its diameter, although enlarged compared to a normal pupil, fluctuates every day. Typically, the disease is one-sided (in 85% of cases), and during bilateral lesion, the unevenness of the pupil is noted. Pupils do not even decrease under the influence of very strong light pathogens, proving it that there is no reaction to a direct light. After a long period of peering into the dark, the ignition of light causes a light and very slow reduction in the pupil;
Violation of accommodation, manifested by increased difficulty of translation of vision issued in blizzards (accomedonium), accommodation occurs after a long latent period;
No convergence reaction From the sore side (when the main defeat is unilateral).

2. Nervous disorders:

lack of tendon reflexes, especially on the lower limbs; The absence of knee reflexes is noted almost, as a rule, so it can simulate the Tabes. The lack of tendon reflexes leads to the disorder of statics and walking. Others neurological symptoms not marked; The spinal fluid is normal with biological and cytological points of view.

Diagnostics.

Ophthalmological examination is the only way to clarify the diagnosis and distinguish this syndrome from other similar pathological conditions eyes.

It is necessary to distinguish the appearance of the pupil under the ADIE syndrome (Eddie) from the pupil with Argyll - Robertson syndrome (Ergil - Robertson) (although both syndrome are similar and can be taken one after another); The latter has some distinctive abilities, namely: as a rule, it is bilateral, pupils have a small diameter or they are narrowed, do not expand in the dark, it is easily expanding with the introduction of expansion substances and are not completely reduced by the use of the mecolil solution.

In addition to the complex symptomatology determining the ADIE syndrome (EDDI), a number of variants differ in the smaller intensity of eye disorders or poverty of symptomatology was described. This was described forms with a tonic pupil without a combination with changes in tendon reflexes; Forms S. incomplete manifestations, even only in the area of \u200b\u200bthe pupil.

Syndrome is congenital - in these cases, hereditary and family character explains the appearance of ADIE syndrome (Eddie) in children younger age - as well as acquired (more often over 20 years old and more often in women).

Flow. Neurological I. eye symptoms No progress, but neither trend towards the disappearance of pathological phenomena is not marked.

Forecast - unfavorable, since functional and neuromuscular disorders are irreversible.

Treatment - at this time there is no efficient and specific treatment; Even the symptomatic treatment is inactive.