Good afternoon. To a daughter 12. Doctors cannot put the exact diagnosis: the child r...

[Olga]

Good afternoon. To a daughter 12. Doctors cannot put the exact diagnosis: the child was born with a full cataract of both eyes (is operated) and before half a year developed normolno, then development has stopped. Now the girl does not sit, seldom overturns and strongly lags behind in weight. Many researches (emrt, a myography, biochemistry) are spent but they have not brought clearness. Advise what to do or make.

[Nogovitsyn V.J.]

To be surveyed at the neurologist and genetics.

[Olga]

Inspection at genetics have not allowed to diagnose. Neurologists put different diagnoses under questions: DTSP, mitohondrialnaja a failure, defect of a metabolism.

[Nogovitsyn V.J.]

What inspections? You are too laconic. If wish to receive though skolko-nibud the distinct answer - write everything, that is.

[Olga]

We are observed in MGTS: genetik appointed or nominated a myography with suspicion to a myopathic syndrome (the diagnosis has not proved to be true), Sodium lactatum of Serum of a blood (parameters exceed norm or rate not on many). Neurologists appointed or nominated: entsefologramma (epi. Changes are not present), Emrt (the mixed hydrocephalus), a roentgen of a skull (without features), biochemical and clinical analyses of a blood (paramatry in norm or rate), VUI (negatively).

[Nogovitsyn V.J.]

The main thing nevertheless are complaints. Except for a stopping in development - anything? Other disturbances (internal organs)? VUI - what? If suspicion on mitohondrialnye illnesses or diseases - informativnee to make a biopsy of muscles. Before (if suspicion on other metabolic disturbances) - aminokislotnyj a spectrum wet also bloods, fat acids and carbohydrates in the same place, the karyotype can be, is methods, but, naturally, dearly or expensively this all much. It is possible to hospitalize in scientific research institute of pediatrics and it is put. Surgeries on Taldomskoj, 2 (www. pedklin. ru).

[Olga]

On a neurology, except for backlog in PMR, disturb hyperkinesias of arms or hand, faces. From accompanying diseases are revealed: an insignificant oval window, an oligotrophy, a postoperative aphakia, a delay of speech development, a dysbacteriosis of an intestine. The analysis of a blood navui: a clamidiosis, a toxoplasmosis, herpes. The girl was under observation in current of month in the Petersburg Pediatric Academy, and, according to doctors, all possible or probable inspections are spent. Whether hospitalization in other hospital will allow to clear the diagnosis, to give the forecast to disease?

[Nogovitsyn V.J.]

I do not know a situation in Peter, to understand Moscow opportunities is. To search for variants all the same it is necessary. Among VUI I do not see a rubella, and meanwhile a congenital cataract - one of its or her attributes (among other).

[Olga]

I have had been ill with a rubella, when was small. The girl sejsas almost does not hold a head, minor improvements come after a course of massage. Advise, please, what analyses and inspections probably to make without hospitalization for specification of the diagnosis. Iz-for small weights to us suggest to pierce anabolics. To agree? Tried or tasted enegropovyshajushchie bioadditives - the girl did not become more active or was not activated. We accept, constantly, greater or big doses of vitamins (nejromultivit, milgamma, vitamin A,).

[Nogovitsyn V.J.]

Olga, I have already written mass of everything what probably to make. Whether it is necessary - other question, it depends on a clinical picture, and I from you receive it or her at an o'clock on a teaspoon. Descend or go to the doctor and discuss an opportunity of the variants listed by me.

[Olga]

Dear Vasily Jurevich! All inspections offered by you whenever possible will be spent. BUT all the matter is that at us till now is not present the constant attending physician, each of experts, not having found full acknowledgement or confirmation of the diagnosis, sends us kuda-nibud. We simply go on a circle (one doctors neurologists speak, that on amino acids it is necessary to hand over a blood, others approve or confirm, what is it nothing will give). As to a clinical picture I have resulted or brought to you citations from last extract.
I have familiarized with a site of scientific research institute of pediatrics, many thanks. Can be at someone from vrachej-neurologists who are engaged nervno-in muscular diseases, there is the saj? Do not prompt?

[Nogovitsyn V.J.]

I can not concrete advise anything on the St.-P., there is no information. Talk to those doctors who offers though something to do or make.