1 Ministry of Russian Adress: 117513 Moscow, Leninsky avenue, 117 icon

1 Ministry of Russian Adress: 117513 Moscow, Leninsky avenue, 117

Название1 Ministry of Russian Adress: 117513 Moscow, Leninsky avenue, 117
Дата конвертации31.07.2012
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Ministry of Russian Adress: 117513 Moscow, Leninsky avenue, 117

Health Services Children Information burean: (095)936-9009

of Russian Clinical Reception department:(095)936-9045,936-9345

Federation Hospital Head physician: (095)434-1177,936-9251

FAX: (095)936-9454,936-9251

Case – History extraction 7293

Danilova Anastasya Vladimirovna, born on the 14 of March,1997.Residence: Republic

Bashkortostan, Ufa, Rossiyskaya str.13,dptm. 203. She had been at the psychoneuro-

logical and epileptical department of the Republic children clinical Hospital (RCCH)

in Ufa from the 27-th of June 2000 up to the 29-th of July 2000

Clinical diagnosis: Metachromatic leukodystrophy. Partial atrofia of visual nerves. Tetraparesis of mixed denesis. Bulbar-pseudobulbar syndrome. Chronic aspiration syndrome.Psychospeech development delay. Hypotrophy of the mixed genesis.Anemia.

^ Anamnesis of a disease: it is know, that the parents consider the girl to be ill from the age of one year and two months, when the girl was noticed to shuffle her right leg. The girl was examined at her local polyclinic with the following diagnosis: sequel of organic

affection of the Central Nervous System (CNS), lower paraparesis.The girl was restored therapeutically. At the age of one year and eidht months the child suffered from herpetic

angina with high fever, after which there were signs of lack of moving habits – the girl

stopped walking, sitting and standing.The only thing she could do- to keep her head. She

was admitted to an in – patient department with the following diagnosis: spinal amyotrophy, intermediate type. At the age of 2 years and 4 months she was treated at the

sanatorium in Sochi, suffered Respiratory virus infection withhyperthermia during one week, began choking eating watery food and spoke with a snuffle. Her speech became not distinct, couldn’t keep her head, didn’task for her night-pot. She was examined at the place of her residence with the help of magnetoresonancetomography (MRT) of the brain – a zone of the diminished thickness in periventricular regions. Her diagnosis was as following : tetraparesis of mixed character, bulbar syndrome,psychomotor development delay. Artery-venous malformations T1-T2 of the spinal marrow, spinal muscular atrophy. Myelinoclasis of the brain and spinal marrow. The child was admitted to RCCH in Ufa in order to define a diagnosis more exactly.

^ Anamnesis of life.
It’s known that the child was born from young parents, second preg-

nancy (the first pregnancy resulted in spontaneous miscarriage of a 12-weeks’ foetus)

with respiratory virus infection which lasted 4 weeks with high fever.There were oedemas in the second half of the period, and there was a threat of interrupfion of pregnancy, colpitis, chlamydosis at the 16-th week. Pregnancy proceeded against a

background of stress situation. Delivery 1, in term, with stimulation and surft – 3 hours.

The baby child at once, weight –3400 gr., height-54sm. Apgar values –7/8, head circum-

ference –36 sm.. During the first 6 days there was jaundice in the maternity hospital

(bilirubin up to 40 mkm/l).Vaccinations up to the age of a year and 2 months-according to the schedule. She had the following illnesses: respiratory virus infection, herpetic

angina.During a year the baby grew according her age: she held ber head from the age of 2 months, sat – from 6 months, stands with a support – from 8 months, walked with the support of one hand – from a year. Her vocabuliry entisted 40-50 words at the beginning of her illness.

^ In branch the following researches earlier were carried out(spent)

*MRT was performed on the 2-nd of November. Series of MRT-tomogrammes of the brain, carried out in 3 projections; didn’t reveal dislocation of middle structures.

Myelinoclasis areas with heterageneous hyperintensive MR- signal are revealed perivent-

ricularly in T2-films.3mm small areas, analogous to MR- characteristics, are defined in the stems of the brain and in the bridge.Subarachnoidal convexital areas are enlarged in

the frontal-occipital-temporal zone.Aemispheres sulci are wide and deep. Subcortical

nuclei, corneal body are commonly formed .Grey and white matter differentiation is declined.Fonsils and cerebellum worm hypoplasia are marked in the caudal sections.

Ventricular system and the large occipital tank are enlarged. The symptoms of marked inflammatory changes are revealed from lach side in the cells of mastoid processes.

Resolution: myelinoclasis process of the brain (leukodystrophy?) subatrophic changes of the frontal-occipital-temporal lobes. Slightly marked mixed hydrocefaly.Cerebellum growth anomaly ( Dandy-Walker variant).Bilateral mastoiditis.

*Pharyngogastroendoscopia. was performed on the 28-th of December. Endoscope was

easily introduced. Jullet- mucus membrane is smooth and rozy, cardium is fully closed.

Stomach entrance is open, mucus membrain is pink and bright. Peristalsis is satisfactory,

porter is fully clamped, a bulb and duodenum are not changed.Resolution: there is no pathology of the upper sections of the bile-intestine tract (BIT) at the moment of examination.

*Electrocardiogram(ECG) was performed on the 17-th of October . Electrocardioaxis(ECA) is turned to the right. Ectopic right atrium rhythm. Right

ventricular rotation. Migration of rhythm conductor with predominance of lower

ventricular rhythm at the entrance. Sinus rhythm is restored in orthostasis.

*ECG was carried out on the 12-th of November.Sinus tachycardia up to 150 in a minute.

ECA is of normal direction. The first phenomena of kaliopenia.

* Examinations in cytomegalovirus infection (CMVI), herpes, German measles ( Central Scientific Research Institute of Epidemiology laboratory) were carried out on the 2-th of December. Resolution: two examinations bailed to reveal any increase of antibodies titres against herpes simplex virus (HSV). A revealed high antibody titre against HSV in the serum and the presence of antibodies in HSV in the simple of the spinal marrow lianor testify that the girle had suffered from herpetic infection.At the moment of examination there are no markers of acute infection. CMVI, isn’t infected by German measles.

*Antibodies to Chlamidia trachomatis, on the 30-th of November, are not testified.

Examination in the laboratory of hereditary diseases of metabolism at the Medical

Genetic Centre of the Russian Academy of Medical sciences, on the 8-th of December.

Resolution: measuring findings of lactate and ketones against a background of glucose curvature are rroughly changed according to the the type of mitochondrial encephalopathies. Muscular biopsy and methabolic therapy administration are showed below:






Glucose (after execise of 19,2 of dry glucose)






























*Electromyogram (EMG)-electrogenesis characteristics of the musclescan be caused by disfunction of oversegment influences. Alterations of muscular character shouldn’t be excluded. Extent of examination and research is limited, the results are not well-founded, interpretation of the data are difucult due to the problems which arise while dealing with the child, her anxious behaviour and dangerous state. Dinamic research should be carried out if necessary.

* Ultrasound examination (USE) was performed on the 27-th of October.

Liver (101x47 mm) is enlarged, mainly the right lobe, borders are smooth,

parenchyma- with a marked intrahepatic picture. Pancreas (14x 7x15 mm) is enlarged,

bordlrs aren’t distinet (gases), parenchyma is heterogeneous, spleen is normal.

Gallblader- the walls are enlarged up to 4 mm, opening between them is interstitial,

kidneys are ordinary situated, demensions meet the age of the child, parenchyma

is homogenous, Patella- pelvis system (PPS)- the walls are thickened.

* USE was performed on the 24-th of December. Liver (104x48) is enlarged, mainly

the right lobe; borders, parenchyma, pancreas are with out considerable dynamics.

Gallblader- the walls are thickened and compact; opening isn’t visualized; opening

of the common bile duct is visualized only in the distant sections (gallbladder is

“ suritched off ”). Spleen, kidneys – with out dynamics.

* Abdominal surgeon – Gallblader is “switched off “. Bile ducts aren’t changed. At the

present moment bile ducts aren’t dangerous to the child’s life.Taking into

consideration the gravitiy of the main disease surgical treatment isn’t administered.

Next examination will be in a year.

* X-raying of the chest was performed on the 26-th of October. Nidus and infiltrative

shadourinds aren’t revealed. Lung grounds are transparent, root and roundroot zones

are concentrated. Sinuses are transparent. Diaphragm tops are distinct and situated as

usual. Heart and big vessels aren’t changed. Mediastinum isn’t enlarged. Resolution:

Chronic Aspiration Syndrome.

* X-raying of the temporal bones (according to shiiller). AD-with separation and it

isn’t possible to evaluate adequately. AS-antral cavity isn’t changed.

* X-raying of the chest was performed on the 22-th of November ( rest position).

Atelectasis of the upper lobe of the right lung at the exit smoothed out. Lung picture

is clouded in both lungs. Roots are little structured, their picture is concentrated.

Diaphragm cupulae are distinct and stand highly. Sinuses are free.The heart isn’t

enlarged, but pursed upright. Mediastinum isn’t broadened (child’s turning to the


*Oculist examined the child on the 21-th of October and on the 9-th of November-object

vision. Nistagmus. Eyes movability is perfect.Retracted media are transparent.

Fundus of the eye: eye nerves disks are of pale-roze colour, boarders are distinct,

vessels aren’t changed. Macula and fundus of the eye periphery don’t have any visible


* Subclavicular catheter was introduced from the 8-th of November p to the 19-th of


* Geneticist. On the basis of examination, MRT, biochemical examination findings it is

likely to make a diagnosis of mitochondrial encephalopathy. More precise diagnosis

can be made after biopsy of the muscles in order to find out “lacerated red fibres” and

after conducting DNA-analysis in order to find out mutations in the corresponding


* Liquor was taken on the 3-th of November. Colourless, transparent, cytosis-1/3,

erythrocytes-absent, protein-0,93 g/l, cytopreparation-fine crystalls cover the whole

field of vision, single lymphocytes and monocytes.

* Liquor was taken on the 9-th of November. Colourless, transparent, cytosis-2/3 mm;

erythrocytes-15 /mm, protein-1,0 g/l, cytopreparation- monocytes,macrophages-3;

lymphocytes-3-6 cells on the whole; erythr.- unchanged, noncelular- mixed microflora,

er.-single, partly changed, cells aren’t found out.

* Liquor was taken on the 9-th of November. Colourless, transparent, cytosis-2/3 mm;

erythrocytes-4/ mm, protein-1,3 g/l, glucose- 2,68 mmol/l; cytopreparation-

er a small quantity, partly changed.5cells-30 mon, 2-lymph. Extracelular- a mixed

microflora er- sindle, partly changed, cells aren’t found out.

* Microcological status (on the 9-th of November)-blood for aerobes- no growth;liquor

for fungi- no growth.

* Liquor analysis (on the 9-th of November).- anaerobic bacteria and fungi metabolysis

test- D-arabinitolum 2,9( N up to12). Mannose –61,7 (N up to 50).Acetic acid- up to

0,5 (N).

* Coprologia ( on the 22-th of October). The form – partly formed, chymeous; light

brown colour; smell- ordinary; muscular fibres- unit; neutr. fat-unit undigested fat-

moderate; fat components, soaps- negative; digested- a lot; starch- moderate;

helminths-not found.

* Blood biochemistry (on the 24-th of December).-Protein, albumin,urea, creatinine,

bilirubin, kalium, natrium, calcium ion. ,glucose, phosphorum, AsAt- without any

changes,AlAt 54,1 unit/l.After feeding meals:glucose-6,4 mmol/l.( Analisis was consul-

ted by endocrinologist- diabetes melitus findings aren’t revealed).

* Consultation by Banin A.V., neurosurgeon, M.D.:Neurosurgical pathology findings

revealed aren’t; not necessary to be operated on.

* Consultations by Dynaevskaya G.N. and Bembeeveva R.Ts.,assistant professors of

Nervous Deseases Chair of the Pediatric Department of the Russian State Meducal

University :diagnosis isn’t clear.It’s necessary to differentiate between mitochondrial

Encephalopathy, one of the earliest forms of leukodystrophy, subacute course of

herpetic infection and also other degenerative diseases.Treatment is coordinated.

Recommendation: observation in dynamics.

* Several consultations made by proctolodist, pediatrician. Treatment correction was

held. Diagnosis is coordinated.

* CMVI IgG-0,3 Zn/ml, toxoplasmosis IgG-0,81 Zn/ml,Ig M-negative.

* Blood serum analysis for immunoglobulin content G- antibodies to the main myelin

protein – 264 mkg/ml (the normal is 30).

* DNA-analysis – frequently met mutations of mitochondrial DNA aren’t revealed

(all the findings are obtained on the phone).

^ The following treatment was carried out (spent):

Acetazolamide –1/2 tabl. In the morning + asparcam ½ tabl.x3 times according to the

Shedule 3:1-2 weeks, mydocalm 0,05-1/4 tabl.x2 times- for 7 days;then- baclophen 5 mg

x 3 times;Nacom once in the morning 1/6 tabl.1/4 tabl.; calcium pantothenate ½ tabl.x3 times; debridate – tea-spoon-full x3 times a day. calcium pantotenate ½ tabl.x 3 times a day Taking into account the main diagnosis a hormonal therapy was administered from the 9-th of November – dexasone 1 mg x 4 times a day, and then – prednizolone 22,5 mg/per day, and from the 11th of december – gradual reducing of a dose.

On the 15-th of December there was a consultation held by chief doctor assistant of medical service Bologov A.A., professor assistant of the nervous diseases of the

pediatric faculty of the Russian State Medical University Bembeeva R.Ts., head of the

department Ilyina E.S. – the diagnosis was coordinated. Due to the lack of the effect of the administered therapy it was recommended to add azatioprini with a dose 2 mg/kg/day – satiation doze for a month; then –1 mg/kg/day, 3 intakes for 6 months. Gradual reducing of a dose of prednisolone after a month's’duration since the begining of

azatioprine in take from the 12-th . From the 20-th of December, 1999, azatioprine

was administered (powders – azatioprine 8 mg + calcium gluconate 0,1) 8mg x 3 times

each. Taking into consideration the child’s poor state it is recommended to abstain from muscular biopsy test at the present moment. Due to the laboratory analysis and clinical

examination findings there no facts to speak about the present herpetic infection. There is no need of specific antiviral therapy.

The child had got courses of medical Physical Culture by Voyta, medical massage, physiotherapy courses- PEMP 10, punctate massage therapy (SMT) N10.

Against a background of conducting therapy somatic status has stabilized. There is no

considerable dynamics in the newrological status – nystagmus has reduced, movable

activity of the hands increased, bulbar syndrome has slightle decreased. At the same time there is a growth of muscular tone according to extrapyramidal type in the hands, appearance of a practically constant assymetric cervical tone reflex; the girl stopped

talking, oral automatisms appeared.

For the periodsince December, 1999 on a residence the cancellation prednisolone

is carried out ( spent) .

Azatioprine have finished to accept 19.06.2000. Three times has transferred

bronchopneumone ( two of them aspiration genesis), was treated stacionare, including, in branches

Reanimations. Since January, 2000 on zoond a feed(meal), independently does not swallow.

Last hospitalization in RC N18 of Ufa with 8.05.2000 on 26.06.2000 c by the diagnosis:

Degenerative disease of the central nervous system, bulbar syndrome.

Is not excluded mitochondrial encephalopathy. ОRVI, aftomatose stomatite

Chronic aspiration syndrome, complicated bronchopneumone , average

Degrees of weight. ДН 1-2 items, hypotrophy of the mixed genesis. For further inspection and treatment the girl was transferred in PND-2 RCCC

^ On admission into the department: doesn’t hold her head, doesn’t turn round, doesn’t

sit, doesn’t stand, doesn’t walk. There are no general mental and meningeal symptoms .

The head is of a brachycephalic form, a benous network is slightly widened in the frontal

temporal sections.Head circumference-50,5 sm.. Percutor – box tinge. Cranial nerves-

slow reaction of the pupils to the light, convergence is weakened, hypomymia, smoothening of the right nasal- labial flexure, horizontal constant sweeping nistagmus, with periodical rotary component. Uvula is turned to the left, soft palate mobility is

diminished, chokes over while swallowing, the voice is low with snuffling. Swallowing

palatal reflexes are strictly diminished. On the zond a feed. Spontaneous movable activity is diminished. Muscular hand power 1-2; right hand power is lower, legs strength –0-1. There is deterioration of a muscle tonus in the hands, against a background of which there are periodical changes similar to “rack-wheel”.There is also a hypertonus in the legs with the formation of rough retraction in the ankles mainly according to spastic type.There is a marked tonus assymmetry from the right.During verticalization there’s a crossing at the level of the lower 1/3 of the thign. A changeable athetoid arrangement of the left hand. A mosaic hypotrophia of the palm muscles.Torpent tendinous reflexes. Pathologic pedal reflexes are caused..Abdominal reflexes are absent.While snatching a toy there’s a slight intention which can be explained first of all by phenomena of paresis. Marked vegetative disturbances: hyperhydrosis of the palms marbleness of the skin, surfaces during emational stress, hypothermia of the body at the periphery. Pelvic functions-constipations, uroschesir tendency. Psychic development-reacts to survey quietly. Understands separate phrases. d Somatic status: hypotrophia- body weidht 12 kg, hard breathing, accompanying rales.

Additional methods of research

1.КEEG from 30.06.2000: functional - organic infringements b.e.а. With episodes of delay.Than multiple localization (is more often in central and temporal departments of hemispheres). Convince bodily of the data for presence local, diffusive, and deneral epiactive in time.The present research is not received.

2. КEEG from 13.07.2000: functional - organic infringements b.e.а. rougher, expressed in back departments, hemispheres (mainly back temporal departments). It is possible to think of formation of the center.Epileptic of activity in right back temporal of area.

Episodes of decline an eye upwards and nistagmoid of movements of eye apples, on all probability, are not epileptic. In comparison with КEEG from 30.06.2000 negative changes by way of possible formation of the center.

3. ЭMG: аxonal-demielinisy a defeat periphery of nerves, muscular electrogenesis is changed on abovesegment and denervation to types. Because of complexity of contact with the child and weight of a condition volume of research is limited, the treatment of a part of results is complicated.

4. USE 07.07 - the liver 96х47 mm is increased, contours equal, parenchyma

with underlined insideliver by figure, the walls of vessels are moderately condensed. Pancreas of iron 17х10х17мм, is increased, contours equal, parenchyma non-uniform, wall virsung passage dense. Spleen without features. Gallblader –the walls are thickened up to 3 mm, the gleam is completely executed by a rather rich deposit.The kidneys are located usually, the sizes correspond to age: left 76х33 (11) mm, right 79х30 (11) mm, contours indistinct, parenchyma a little increased echo, wall dense.

5. Ensimodiagnostics leukocytes of blood: arilsulfatasa A 17,80 (126,50-294 nm\mg\hour in norm), Beta-D-GALACTOSIDASA 157,50 (98,30-232 - nm\mg\hour in norm),PPT 44,50 (27,0-100 nm\mg\hour), TPP 120,20 (50,0-255 nm\mg\hour in norm).

The diagnosis: the activity arilsulfatasa A sharply is reduced. The diagnosis metachromatic leukodystrophy. Diagnostics is recommended prenatale to family

6. The operation 7.07 was made - biopsy of a muscle after-operation the period proceeded smoothly, the wound has begun to live a primary tension.

Activity of complexes of a respiratory circuit mitochondrials in muscle byoptate:

Biological Activity NORM the Attitude(relation) of activity NORM

Material КDC in КDC\CS

МU\mg of fiber

2 complexes

In leukocyt\ muscle byoptate\ 14,000 4,00-18,00 0,061 0,15-0,08


2 + 3 complexes

In leukocyt\ muscle byoptate \ 74,000 22,00-88,00 0,322 0,20-0,50


4 complexes

In leukocyt\ muscle byoptate \ 133,000 68,00-437,00 0,578 1,00-2,00



In leukocyt\ muscle byoptate \ 230,000 48,00-160,00


7.oculist: the sight does not fix. Nistagmus. A forward piece refracting environments without changes. Fudus of the eye: the disks of visual nerves pale, contours precise, arterys are narrowed, veins in norm. . Macula and fundus of the eye periphery don’t have any visible changes. Diagnosis: partial atrophy of visual nerves missing squint:, degeneration, macula, nistagmus.

8.Ortopedy: at the child incomplete dislocation pelvisthigher of joints, ecvinovarus installation stop. It is recommended: the trunk Vilensk, tuttor on talocrural joints.

9.Pediatric: at the child at survey is revealed afta on apex of language. It is recommended: processing oral of a cavity antiseptics (betadin, camomile, гgecsoral), knitting means . Influensa bacteriofag 10 ml х 3 time\day through a mouth - 1 week

10.Gastroenterology: toxic a defeat of a liver. It is recommended:

-essenciale 1\2 caps.х 2 time\day -1,5 month

-kreon 8000 1\2 caps х 3 time\day during meal

-cerukal 1\3 tab.х3 time\day for 15 mines. Up to meal.

At receipt are marked paroksizms of institutions of eye apples upwards and outside, interpreted earlier as epileptic attacks. On EEG during such parocsizmal local, parocsizmal or epileptik of activity is not revealed. Condition was interpreted as subcrustal of infringement - for a type dystonia of eye apples.

During stay in stacionar the therapy was carried out(spent) onsyndrome, depaken is cancelled.The condition the girl without negative dynamics(changes), but remains heavy.

Leaves from branch under supervision neurologist, pediatrician on a residence. The forecast of disease adverse, the therapy is shown onsyndrome.

It is recommended:

1. Baklophen (0,01) 1\2 t.х3time\day, the increase of a doze up to 1t.х2-3 time\day on a condition of the child is possible, is long.

2. Nacom 1\4х1 time\day (morning) - is long

3. Radedorm (5mg) 1\8 t.х2 time\day - long

4. Recommendation of the experts

  1. At planning family prenatale diagnostics

Atteending doctor: Ilyina E.S.


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