Medical history - Pediatrics (congenital heart disease). History The historical aspect of the occurrence of Down syndrome
Congenital heart disease (tetralogy of Fallot), insufficiency period of progression, mixed origin.
Disease history.
Upon receipt of a complaint of cough, fever,
anxiety. Cough - with the separation of a small amount of mucous
I fell ill on 17/IV 98, when the temperature rose to 38.3 degrees. After
taking aspirin, the temperature returned to normal, but on the morning of 18/IV rose
up to 38 degrees. He was examined by a paramedic, ampioks was prescribed. 18 and 19/IV
the temperature did not rise, there was a dry cough, anxiety,
decreased appetite. When contacting the CRH doctor, the diagnosis was made
‘ARVI’, the child was sent to the clinic “Mother and Child” for examination and
The child suffers from congenital heart disease (diagnosis was established in 1 DCS
Ivanov, where the child was treated after the maternity ward). was
on examination at the clinic "MiD" in February 1998.
Prior to curation, the child received the following treatment: digoxin,
nitrosorbide, panangin for the underlying disease, as well as lincomycin.
Anamnesis of life.
- Antenatal period.
Child from first pregnancy, first birth.
Pregnancy proceeded against the background of anemia of the I degree, varicose veins
veins, diffuse enlargement thyroid gland, SARS in the second half
pregnancy.
Information about the threat of miscarriage, nutrition of a pregnant woman, professional
hazards, there are no preventive measures for rickets.
Extragenital pathology in the mother is not observed.
The course of labor is normal, delivery at 40-41 weeks. obstetric
no interventions were made. information by nature amniotic fluid and
Apgar score for the newborn is not available.
Conclusion on the development of the child in the antenatal period: risk factor
may be a diffuse enlargement of the thyroid gland, ARVI in II
half of pregnancy.
- Neonatal period.
Born full term, birth weight 3040 g, length at birth 53
see Shouted at once. Recovery measures were not applied. Birth trauma is not
It was. Shortly after birth, cyanosis appeared.
The remainder of the umbilical cord fell off on the 3rd day, the umbilical wound healed on the 5th day. Was
applied to the chest after 1 day.
On the 6th day he was discharged in the 1st hospital. Weight at discharge 3000 g.
Conclusion on the development of the child in the neonatal period: mass-growth
coefficient = 57.3 - malnutrition of the 1st degree; manifested pathology
intrauterine development - congenital heart disease.
- Feeding a child.
Currently located on artificial feeding. Lure
introduced at 3.5 months in the form of porridge at 70.0. Receives juices from 1 month,
fruit puree - from 2 months. Was weaned at 1.5 months, up to 4
received mixtures for months, now - whole milk and mixtures.
Diet - 7 times a day after 3 hours with a night break of 6 hours.
Conclusion on breastfeeding: early transition to artificial
feeding; early introduction of porridge, lack of vegetable puree.
- Information about the dynamics of physical and psychomotor development.
Holds his head from 5 months, badly. Don't sit, don't stand.
Speech development: cooing for about 2 months.
Height is currently 61 cm (with due for this age 67 cm),
weight - 4266 g (with 6208 g due for this growth) - mass deficit
The sum of the corridors is 4, the difference is 1.
DDU does not attend.
Conclusion about psychomotor and physical development child: delay
physical and psychomotor development; reduced height and low weight
body, hypostatura II degree.
- Information about prophylactic vaccinations.
Not carried out.
- Past illnesses.
A diagnosis of congenital heart disease was made.
There is an allergic reaction to Orange juice in the form of erythema
cheeks, reaction to ampioks.
From 4.5 months - allergic constitutional dermatitis.
- Housing conditions.
Material and living conditions are satisfactory. Baby care
sufficient. The mode of the child is age appropriate. walks
daily. Meals are regular. Behavior at home - the child is restless.
- Information about the child's family.
Mother - Baushina Elena Alexandrovna, 23 years old, does not work. Healthy.
Father - Baushin Sergey Evgenievich, 22 years old, Lezhagropromtrans -
driver. Healthy.
occupational hazards and bad habits father and mother not
noted.
Heredity is not burdened.
Genealogical tree
III. OBJECTIVE STUDY
General state child is heavy. Weight 4266 g, height 61 cm, circumference
head 39 cm, chest circumference 37 cm.
The skin is pale, at rest - cyanosis of the nasolabial triangle, with
anxiety - general purple cyanosis. Strengthening of the venous pattern on
head. Hyperemia and vasodilatation of the eyelids. Areas of pigmentation
inguinal folds.
Visible mucous membranes are pale pink, clean.
The subcutaneous tissue is thinned, the skin is easily folded.
Ribs and joints are moderately contoured. The thickness of the skin fold
the anterior surface of the abdomen is 0.5 cm. Tissue turgor is reduced.
The muscular system is poorly developed, general muscular hypotension is noted,
physical activity reduced.
The behind-the-ear lymph nodes are somewhat enlarged, the consistency is dense.
The remaining groups of nodes are not palpable.
Head with pronounced parietal tubercles. The skull is brachycranic.
The large fontanel is practically closed (dimensions - 0.5x0.5 cm). The edges
Craniotabes, "rosary", "bracelets" are not defined.
The shape of the joints is not changed, soreness, swelling, hyperemia are not
it is noted that the range of motion is preserved.
Respiratory system.
sniffling. There is no separable.
The chest is enlarged in the anterior-posterior size.
The number of respiratory movements 60/min, rapid breathing, superficial.
Auxiliary muscles and wings of the nose are involved in the act of breathing.
Shortness of breath mixed.
Respiratory failure IIA degree.
On palpation, the chest is elastic, painless. Percussion
boxy sound.
On auscultation of the lungs, breathing is increased vesicular,
conductive wet coarse rales.
Circulatory organs.
On the radial arteries, the pulse is synchronous, the filling is reduced, filiform,
rhythmic. Pulse rate 145 beats/min. The walls of the artery are elastic.
On examination, the cardiac region is not changed. The heartbeat is not visible.
The apex beat is palpable in the 5th intercostal space 1 cm outward from
left midclavicular line, localized, of moderate height and strength,
not resistant. Cat purring is not defined.
Limits of relative cardiac dullness:
Right - on the right edge of the sternum.
Left - 2 cm outward from the left midclavicular line.
Upper - II rib along the left parasternal line.
Limits of absolute cardiac dullness:
Right - on the left edge of the sternum.
Left - on the left midclavicular line.
Upper - III rib along the left parasternal line.
On auscultation, the heart sounds are rhythmic. II tone over the pulmonary artery
weakened. A coarse systolic murmur is heard at all points.
maximum - in the IV intercostal space on the left, carried out beyond the heart on
vessels of the neck, in the axillary regions, on the back. Noise occupies the entire systole,
somewhat intensifies to the II tone.
Digestive and abdominal organs.
Appetite is reduced. Sometimes regurgitation is noted.
The mucous membrane of the oral cavity is pink, moist, there is a moderate
hyperemia of the palatine arches and posterior pharyngeal wall. Tongue clear, pink,
Dental formula:
Teeth began to erupt at 3 months. Tonsils within the palatine arches, no pathological changes are noted.
The abdomen is rounded, soft, painless, available deep
palpation in all departments. There is hypotension of the muscles of the anterior abdominal
walls. Free fluid in the abdominal cavity is not determined.
The size of the liver according to Kurlov: 6 cm, 5 cm, 5 cm. On palpation - 3 cm from under
the edges of the costal arch, painless, the surface is smooth.
The spleen is not palpable, percussion longitudinal size is 4 cm,
transverse - 2 cm.
Urogenital system.
Urination free, painless. The color of urine is straw yellow,
without pathological impurities, smell - without features.
There is no swelling and hyperemia of the skin in the lumbar region. soreness
when pressing on the lower back, no. The kidneys are not palpated. Symptom
Pasternatsky is negative on both sides.
The external genital organs are formed according to the male type, correctly.
There are no malformations or signs of inflammation.
Nervous system.
There is increased excitability with a predominance of negative
emotions. Sleep restless, shallow. Tendon reflexes are reduced.
Oral and spinal segmental automatisms are absent (there are
residual effects of the grasping reflex on the upper limbs).
Mesencephalic adjusting automatisms (trunk rectifier
reaction, Landau reflexes) are not determined.
There are no meningeal symptoms.
There is no increased sweating, dermographism is pink.
Sense organs.
The state of vision, hearing, smell, taste, skin sensitivity is not
violated.
Preliminary conclusion (diagnostic summary).
According to the anamnesis and objective examination revealed:
- delayed physical and neuropsychic development; hypostature II
- catarrhal phenomena from the upper respiratory tract,
respiratory failure;
- the presence of pathology of cardio-vascular system(weakening of II tone
over the pulmonary artery, rough systolic murmur, set
diagnosis of ‘congenital heart disease’);
- manifestations of reduced tolerance to food (decreased appetite,
regurgitation);
- changes in the central nervous system: restless sleep, increased excitability,
emotional lability.
- DATA OF LABORATORY AND INSTRUMENTAL STUDIES
- Conclusion on the ECG dated 23/IV 98.
The position of the EOS is vertical. sinus rhythm, heart rate
contractions 150/min, signs of overload. I tone is normal, II is weakened
over the pulmonary artery.
High-frequency, high-amplitude pansystolic murmur, increasing
to the II tone, is registered at all points of auscultation, maximum - in
IV intercostal space on the left. At the apex and in the IV intercostal space on the left - a short
mesodiastolic murmur.
Tetralogy of Fallot. Exclude OAP.
- Examination by an otorhinolaryngologist 23/IV 98
Conclusion: pathology of ENT organs was not revealed.
- Complete blood count dated 23/IV 98.
Erythrocytes — 4.05 T/l
Hemoglobin — 124 g/l
Color index - 0.93
Leukocytes - 4.2 g / l
Eosinophils - 4%
Segmented - 15%
Monocytes - 6%
Lymphocytes - 75%
ESR - 2 mm/h
Conclusion: anemia I degree, leukopenia, lymphocytosis, neutropenia.
- General analysis of urine from 23/IV 98.
Color - colorless
The reaction is sour
Specific gravity - little urine
transparent
Protein - negative
Epithelial cells are squamous - single in the field of view
Leukocytes - 4-5-6 in the field of view
Oxalates ++
Conclusion: oxalaturia.
- Coprogram dated 23/IV 98
Consistency - decorated
Yellow color
Muscle fibers are digestible +
Fatty acids ++
Conclusion: no pathology.
- Blood test for clotting time and acid-base balance from 24/IV 98.
Blood clotting – 12’30”
Hematocrit - 39%
pCO2 = 39.5 mmHg
Conclusion: compensated acidosis.
- Biochemical analysis blood from 24/IV 98g.
Total protein — 59.0 g/l
Potassium - 5.1 mmol / l
Sodium - 137 mmol / l
Calcium - 2.14 mmol / l
Conclusion: hypoproteinemia, hypocalcemia.
- X-ray of the lungs dated 24/IV 98.
Pulmonary pattern is significantly enhanced due to hypertension. Roots
structureless. The sinuses are free. The heart is enlarged in diameter to the left.
- Neurosonography dated 24/IV 98.
The structures of the brain are located correctly, the brain structures of increased
echo density. The ventricular system is not expanded. Vascular plexuses
without features. Interhemispheric fissure 4.0 mm. focal changes with
sides of the basal ganglia and brain substance were not identified.
- Echocardiography from 24/IV 98.
Enlargement of the right cavities of the heart, high membranous defect
interventricular septum, hypoplasia of the pulmonary artery trunk with
acceleration of blood flow in it up to 3.6 m/s with PGav=50 mm Hg.
Dextroposition of the aorta.
Conclusion: Fallot's tetrad.
- Blood test for antibodies to HIV dated 27/IV 98.
The result is negative.
- Urinalysis according to Nechiporenko from 27/IV 98.
Leukocytes - 250 / ml
Red blood cells - 0
Cylinders - 0
Conclusion: no pathology.
TEMPERATURE SHEET
- DIARY OF OBSERVATIONS
Date, T,Ps, BH | Patient examination data | Appointments |
27.04.98 | The condition is severe due to the underlying disease. Complaints about restless sleep, poor appetite. Cyanosis of the nasolabial triangle at rest, general purple cyanosis with anxiety. Internal organs - no changes. | 1. Diet therapy. 2. Nitrosorbide. 3. Triampur. 4. Panangin. 5. Cefazolin. 6. Furacilin-adrenaline nose drops. 7. Luminal. |
28.04.98 | Severe condition. Complaints of infrequent cough, fever. The child is lethargic, motor activity is reduced, muscle hypotension is noted. Internal organs - no changes. | The same. |
29.04.98
T=39.6 - 37.0 |
The condition is stable. The temperature in the morning is febrile, then decreased to subfebrile numbers. Feeling worse. Sucks willingly, the amount of food assimilates, does not spit up. Cough is rare. There are no edema. There are no rales in the lungs. Systolic noise of former properties. | The same. |
30.04.98 | At night 3 stools, watery. There was no stool in the morning. The abdomen is soft, rumbling along the entire intestine. The rest of the complaints are the same. Organs - no change. | The same. |
Conclusion
During the curation of improvement of the condition is not observed.
- DIFFERENTIAL DIAGNOSIS
The tetrad of Fallot must be differentiated from another common
vice - transposition of the great vessels because these states
have similar Clinical signs:
- severe cyanosis;
- shortness of breath;
- shortness of breath-cyanotic attacks during anxiety;
- malnutrition;
- delayed psychomotor development, muscle hypotension;
- signs of overload of the right heart on the ECG.
Cyanosis, manifested from the moment of birth, is more characteristic of
transposition of the great vessels than for Fallot's tetrad, but
the patient has a number of signs that are not characteristic of transposition, but
- coarse systolic organic murmur with a maximum in
third-fourth intercostal space on the left, passing to the vessels of the neck, in
axillary region and on the back;
- weakening of the II tone over the pulmonary artery.
When making a diagnosis of Fallot's tetrad, it is also necessary to exclude
possibility congenital non-rheumatic carditis, for which
lag in physical development, lethargy, pallor,
fatigue, systolic murmur. in favor of congenital carditis
testify to the mention in the anamnesis of ARVI in the II half
pregnancy. However, the patient does not have the following characteristic
carditis signs caused by inflammatory changes in the myocardium:
- deafness of heart tones;
- left ventricular failure, accompanied by hypertension
small circle of blood circulation (accent of the II tone over the pulmonary artery);
- systolic murmur characteristic of mitral insufficiency
(secondary mitralization against the background of myocardial damage);
- on the ECG - signs of left ventricular myocardial hypertrophy, its ischemia
subendocardial regions, violation of intraventricular
conduction, EOS deviation to the left, arrhythmias (tachycardia, blockade,
extrasystoles).
Reliable confirmation of the diagnosis of 'tetrad of Fallot' is
conclusion on the echocardiogram, which revealed characteristic
blemish change:
- enlargement of the right cavities of the heart;
- high membranous ventricular septal defect;
- hypoplasia of the trunk of the pulmonary artery;
- dextroposition of the aorta.
VII. DIAGNOSIS AND ITS JUSTIFICATION (FINAL DIAGNOSIS)
Clinical diagnosis:
Congenital heart disease (tetralogy of Fallot), insufficiency
circulation IIA, phase of primary adaptation. Hypostatura II degree,
Residual effects of SARS.
The diagnosis is based on the following data:
- Auscultatory picture characteristic of Fallot's tetrad (weakening
II tone over the pulmonary artery, the presence of coarse systolic murmur,
outside the heart) and data from instrumental methods
studies (ECG, FCG, echocardiography, radiography).
- Paleness of the skin, cyanosis of the nasolabial triangle at rest;
general purple cyanosis with anxiety, accompanied by shortness of breath.
- Delay in physical and neuropsychic development caused by
the presence of heart disease and errors in nutrition. Combined
growth retardation and weight gain.
- Decreased food tolerance.
- Increased excitability, psycho-emotional lability,
the predominance of negative emotions.
- Muscular hypotension, hyporeflexia.
- Prolonged subfebrile condition, catarrhal phenomena from the upper
respiratory tract.
VIII. ETIOLOGY AND PATHOGENESIS
The cause of congenital heart defects is not fully understood.
The frequency of such anomalies is approximately 1/120 live births.
Genetics play an undoubted role in their occurrence.
hereditary predisposition. For example, children are known to
with trisomy 13 or trisomy 18 usually has a severe malformation
hearts. Congenital heart defects can be observed in other
hereditary diseases: Down syndrome (trisomy 21), syndrome
Turner-Shereshevsky (HO), Holt-Oram syndrome. Cause of congenital
heart disease may be maternal disease (for example, diabetes mellitus
or systemic lupus erythematosus), environmental teratogens (eg,
thalidomide) or combined actions of similar factors. Have
meaning viral infections(including subclinical), transferred
woman in the first 3 months of pregnancy: rubella, influenza, infectious
if there is one patient of the first degree of kinship in the family, it is
about 2-3%; for children of sick parents, this risk is higher.
In the presence of a normal healthy heart after the neonatal period
(when there is a restructuring of the cardiovascular system with the closure
foramen ovale and ductus arteriosus, decreased lung
vascular resistance to adult levels)
large and small circles of blood circulation are completely separated, and
intracardiac pressure in the right chambers is lower than in
corresponding left. The degree of violation of these relationships determines
hemodynamic consequences of congenital heart defects.
Allocate the following congenital heart defects:
- with overflow of a small circle of blood circulation;
- with depletion of his blood;
- with normal pulmonary circulation, sometimes with depletion of a large
circulation circle.
Tetralogy of Fallot refers to vices with impoverishment of the small circle.
In the classical version of Fallot's tetrad, 4 signs:
- stenosis of the output of the right ventricle at various levels;
- defect of the interventricular septum;
- hypertrophy of the myocardium of the right ventricle;
- dextroposition of the aorta.
The presence of these anatomical changes causes peculiarities
hemodynamics in such patients:
blood flows from the right ventricle into the narrowed pulmonary artery and
"sitting astride" on the interventricular septum aorta;
- blood enters the aorta from the left (arterial) and from the right
(venous) ventricles. due to limited blood supply
into the pulmonary circulation and a significant discharge of it from the right
cyanosis develops in the ventricle into the aorta. The severity of cyanosis depends
from the absolute amount of unsaturated hemoglobin, its
recognition may be difficult in anemia. As a result
prolonged low arterial oxygen saturation
“drum sticks”, “watch glasses” develop;
- there is an overload of the right ventricle. for the development of hypertrophy
the right ventricle is especially affected by its adaptation to pressure in the aorta;
- gradually there is a compensatory collateral circulation
between the large circle and the lungs, which is carried out mainly
way through the dilated arteries of the bronchi, chest wall, pleura,
pericardium, esophagus and diaphragm;
- over time, polycythemia develops (erythrocytes up to 8 T / l, hemoglobin
up to 250 g/l).
- TREATMENT AND ITS RATIONALE
Treatment of this patient should consist of the treatment of heart disease
and related circulatory failure, treatment of hypostatura
(hypotrophy), treatment of SARS.
Radical elimination of the defect is possible only by surgery.
It is also possible to perform palliative surgery (overlay
aortopulmonary anastomosis), but it is necessary only if
when shortness of breath and cyanotic attacks are not stopped by conservative
therapy, there is a lag in physical development or a small
mobility against the background of severe hypoxemia or anatomical structure
defect does not allow radical correction. In any case, indications and
contraindications to surgery should be established only after
treatment of other diseases.
Diet therapy.
It is aimed mainly at the treatment of malnutrition. When appointed
dietary nutrition must follow two basic principles:
- The principle of "rejuvenation" of food, i.e. use of human milk or
adapted mixtures intended for an earlier age.
This achieves sparing of the alimentary canal from re-irritating
action of food.
- The principle of two-phase power:
- the period of clarification of tolerance to food, taking into account individual
characteristics of the organism;
- a period of transitional and optimal nutrition that satisfies
the need for reparation, the continued growth and development of the child.
An example diet plan.
Daily amount of food = 1/7 of body weight = 600 ml.
Diet - seven meals every 3 hours with a night break of 6 hours.
The main food is whole milk, 90 ml per feeding. Second
feeding - cottage cheese 20.0, egg yolk - 1/2. Between feedings
liquid as needed (glucose-salt solutions, vegetable and fruit
decoctions, tea).
- 00 - milk 90 ml
- 00 - milk 90 ml, cottage cheese 20.0, egg yolk 1/2
- 00 - milk 90 ml
- 00 - milk 90 ml
- 00 - milk 90 ml
- 00 - milk 90 ml
- 00 - milk 90 ml
In the future, with the normalization of tolerance indicators,
introduce complementary foods, starting with vegetable puree, and then porridge.
Medical therapy.
Treatment of heart failure.
Digoxin used prior to curation should be discontinued because
in tetralogy of Fallot, they may increase the tendency for pulmonary stenosis
arteries to spasm by increasing the inotropic function of the myocardium.
- Nitrosorbide 0.001 4 times a day.
The drug of the antianginal group. Also found use as
peripheral vasodilator in heart failure. lowering
tone of peripheral venous vessels (venules), the drug reduces
venous blood flow to the heart, pressure in the vessels of the small circle,
shortness of breath, cyanosis.
- Triampur 1/4 tablet every other day.
The drug of the group of potassium-sparing diuretics. Reduces permeability
cell membranes of the distal tubules for sodium ions and enhances them
excretion in the urine without increasing the excretion of potassium ions. Applies
for the relief of edema in heart failure.
- Panangin 1/4 tablet 3 times a day.
be used in conjunction with digitalis preparations for the prevention
hypokalemia. Potassium ions have the ability to slightly reduce
tachycardia.
Treatment of SARS, prevention of secondary bacterial infection
infections.
- Cefazolin 100 thousand 2 times / m (from 29/IV - 200 thousand)
First generation cephalosporin antibiotic. Has a wide
spectrum of action.
- Furacilin-adrenaline nasal drops 2 drops 3 times a day.
They have a vasoconstrictive and antiseptic effect. Applicable for
acute rhinitis to facilitate nasal breathing.
For cupping CNS manifestations(restless sleep, increased
excitability) it is advisable to prescribe luminal 0.1% solution for 1 teaspoon
spoon 2 times a day. The drug belongs to anticonvulsants,
In small doses, it has a calming and hypnotic effect.
X. EPICRISIS
Baushin x, 5 months old, is on inpatient treatment
diagnosis of 'ARVI, congenital heart disease (tetralogy of Fallot)'. After
On examination, a clinical diagnosis was made:
congenital heart disease (tetralogy of Fallot), insufficiency
circulation IIA, phase of primary adaptation. Hypostatura II degree,
period of progression, postnatal, mixed origin.
Residual effects of SARS.
The following treatment was prescribed: diet therapy, nitrosorbide, triampur,
panangin, cefazolin, furatsilin-adrenaline nasal drops, luminal.
The treatment is tolerated without complications, but the improvement of the condition after
MINISTRY OF HEALTH AND MEDICAL INDUSTRY OF THE RUSSIAN FEDERATION IVANOVO STATE MEDICAL ACADEMY DEPARTMENT OF CHILDREN'S DISEASES OF PEDIATRIC FACULTY Head. Department Professor Shilyaev R.R. Lecturer ass. Kopilova E.B. CASE HISTORY x, 5 months Clinical diagnosis: Congenital heart disease (tetralogy of Fallot), circulatory failure IIA, phase of primary adaptation. Hypostatura II degree, period of progression, postnatal, mixed origin. Residual effects of SARS. Curator: student of the 8th group of the 4th year of the general medical faculty Bashlachev Andrey Alexandrovich. Supervision date: April 25, 1998 IVANOVO - 1998 I. PASSPORT DATA child: x Age: 5 months. Date and year of birth: November 26, 1997. Address permanent place residence: Ivanovo region, Lezhnevsky district Date and time of admission to the clinic: April 22, 1998, 2:45 pm. Which institution sent: Lezhnevskaya CRH. Diagnosis at referral: SARS, congenital heart disease (tetralogy of Fallot). Clinical diagnosis: Congenital heart disease (tetralogy of Fallot), circulatory failure IIA, phase of primary adaptation. Hypostatura II degree, period of progression, postnatal, mixed origin. Residual effects of SARS. II. HISTORY Medical history. Upon receipt of a complaint of cough, fever, anxiety. Cough - with the separation of a small amount of mucous sputum. I fell ill on 17/IV 98, when the temperature rose to 38.3 degrees. After taking aspirin, the temperature returned to normal, but on the morning of 18/IV it rose to 38 degrees. He was examined by a paramedic, ampioks was prescribed. On 18 and 19/IV the temperature did not rise, dry cough, anxiety, loss of appetite appeared. When contacting the CRH doctor, he was diagnosed with SARS, the child was sent to the clinic "Mother and Child" for examination and treatment. The child suffers from congenital heart disease (diagnosis was made at the 1st Children's Clinical Hospital in Ivanovo, where the child was treated after the maternity ward). Was on examination at the clinic "MID" in February 1998. Prior to curation, the child received the following treatment: digoxin, nitrosorbide, panangin for the underlying disease, and lincomycin. Anamnesis of life. 1. Antenatal period. Child from first pregnancy, first birth. Pregnancy proceeded against the background of anemia of the I degree, varicose veins, diffuse enlargement of the thyroid gland, SARS in the second half of pregnancy. There is no information about the threat of miscarriage, nutrition of a pregnant woman, occupational hazards, and measures to prevent rickets. Extragenital pathology in the mother is not observed. The course of labor is normal, delivery at 40-41 weeks. No obstetric interventions were performed. There is no information on the nature of amniotic fluid and the assessment of the newborn on the Apgar scale. Conclusion on the development of the child in the antenatal period: diffuse enlargement of the thyroid gland, SARS in the second half of pregnancy may be a risk factor. 2. Neonatal period. He was born full-term, weight at birth 3040 g, length at birth 53 cm. He screamed immediately. Recovery measures were not applied. There was no birth trauma. Shortly after birth, cyanosis appeared. The remainder of the umbilical cord fell off on the 3rd day, the umbilical wound healed on the 5th day. Was applied to the chest after 1 day. On the 6th day he was discharged in the 1st hospital. Weight at discharge 3000 g. Diagnosed with congenital heart disease. Conclusion on the development of the child in the neonatal period: mass-growth coefficient = 57.3 - malnutrition of the 1st degree; manifested pathology of intrauterine development - congenital heart disease. 3. Feeding the baby. She is currently bottle-fed. Complementary foods were introduced at 3.5 months in the form of porridge at 70.0. Receives juices from 1 month, fruit puree - from 2 months. Was weaned at 1.5 months, received formula until 4 months, currently whole milk and formula. Diet - 7 times a day after 3 hours with a night break of 6 hours. Conclusion on feeding the child: early transfer to artificial feeding; early introduction of porridge, lack of vegetable puree. 4. Information about the dynamics of physical and psychomotor development. Holds his head from 5 months, badly. Don't sit, don't stand. Speech development: cooing for about 2 months. Growth is currently 61 cm (with 67 cm due for a given age), weight - 4266 g (with 6208 g due for a given height) - a mass deficit of 24%. | Height | 61 cm | 2 "corridor" | | Weight | 4266 g | 1 "corridor" | | | Chest circumference | 37 cm | 1 "corridor" | The sum of the corridors is 4, the difference is 1. He does not attend kindergarten. Conclusion on the psychomotor and physical development of the child: delayed physical and psychomotor development; reduced height and low body weight, hypostatus II degree. 5. Information about preventive vaccinations. Not carried out. 6. Past diseases. Diagnosed with congenital heart disease. There is an allergic reaction to orange juice in the form of erythema of the cheeks, a reaction to ampiox. From 4.5 months - allergic constitutional dermatitis. 7. Living conditions. Material and living conditions are satisfactory. Child care is adequate. The mode of the child is age appropriate. Walks daily. Meals are regular. Behavior at home - the child is restless. 8. Information about the child's family. Mother - Baushina Elena Alexandrovna, 23 years old, does not work. Healthy. Father - Baushin Sergey Evgenievich, 22 years old, Lezhagropromtrans - driver. Healthy. Occupational hazards and bad habits of the father and mother are not noted. Heredity is not burdened. Genealogical tree F1 F2 F3 III. OBJECTIVE STUDY The general condition of the child is severe. Weight 4266 g, height 61 cm, head circumference 39 cm, chest circumference 37 cm. The skin is pale, at rest - cyanosis of the nasolabial triangle, with anxiety - general purple cyanosis. Strengthening of the venous pattern on the head. Hyperemia and vasodilatation of the eyelids. Areas of pigmentation in the inguinal folds. Visible mucous membranes are pale pink, clean. The subcutaneous tissue is thinned, the skin is easily folded. Ribs and joints are moderately contoured. The thickness of the skin fold on the anterior surface of the abdomen is 0.5 cm. Tissue turgor is reduced. The muscular system is poorly developed, general muscular hypotension is noted, motor activity is reduced. The behind-the-ear lymph nodes are somewhat enlarged, the consistency is dense. The remaining groups of nodes are not palpable. Head with pronounced parietal tubercles. The skull is brachycranic. The large fontanel is practically closed (dimensions - 0.5x0.5 cm). The edges are tight. Craniotabes, "rosary", "bracelets" are not defined. The shape of the joints is not changed, soreness, swelling, hyperemia is not observed, the range of motion is preserved. Respiratory system. Hoarseness of voice is noted. Breathing through the nose is somewhat difficult, sniffling. There is no separable. The chest is enlarged in the anterior-posterior size. The number of respiratory movements 60/min, rapid breathing, superficial. Auxiliary muscles and wings of the nose are involved in the act of breathing. Shortness of breath mixed. Respiratory failure IIA degree. On palpation, the chest is elastic, painless. Percussion sound with box tone. On auscultation of the lungs, breathing is increased vesicular, wired moist coarse rales are heard. Circulatory organs. On the radial arteries, the pulse is synchronous, the filling is reduced, filiform, rhythmic. Pulse rate 145 beats/min. The walls of the artery are elastic. On examination, the cardiac region is not changed. The heartbeat is not visible. The apex beat is palpated in the 5th intercostal space 1 cm outward from the left midclavicular line, localized, of moderate height and strength, not resistant. Cat purring is not defined. Borders of relative cardiac dullness: Right - along the right edge of the sternum. Left - 2 cm outward from the left midclavicular line. Upper - II rib along the left parasternal line. Borders of absolute cardiac dullness: Right - on the left edge of the sternum. Left - on the left midclavicular line. Upper - III rib along the left parasternal line. On auscultation, the heart sounds are rhythmic. II tone over the pulmonary artery is weakened. At all points, a rough systolic murmur is heard, maximum - in the IV intercostal space on the left, carried out beyond the heart to the vessels of the neck, to the axillary regions, to the back. Noise occupies the entire systole, slightly intensifies to the II tone. Digestive and abdominal organs. Appetite is reduced. Sometimes regurgitation is noted. The mucous membrane of the oral cavity is pink, moist, there is a moderate hyperemia of the palatine arches and the posterior pharyngeal wall. The tongue is clean, pink, moist. Dental formula: 1 1 Teeth began to erupt at 3 months. Tonsils within the palatine arches, no pathological changes are noted. The abdomen is rounded, soft, painless, accessible to deep palpation in all departments. There is hypotension of the muscles of the anterior abdominal wall. Free fluid in the abdominal cavity is not determined. The size of the liver according to Kurlov: 6 cm, 5 cm, 5 cm. On palpation - 3 cm from under the edge of the costal arch, painless, smooth surface. The spleen is not palpable, percussion longitudinal size 4 cm, transverse - 2 cm. Genitourinary system. Urination free, painless. The color of urine is straw-yellow, without pathological impurities, the smell is without features. There is no swelling and hyperemia of the skin in the lumbar region. There is no pain when pressing on the lower back. The kidneys are not palpated. Pasternatsky's symptom is negative on both sides. The external genital organs are formed according to the male type, correctly. There are no malformations or signs of inflammation. Nervous system. There is increased excitability with a predominance of negative emotions. Sleep restless, shallow. Tendon reflexes are reduced. Oral and spinal segmental automatisms are absent (there are residual phenomena of the grasping reflex on the upper limbs). Mesencephalic adjusting automatisms (trunk rectifying reaction, Landau reflexes) are not determined. There are no meningeal symptoms. There is no increased sweating, dermographism is pink. Sense organs. The state of vision, hearing, smell, taste, skin sensitivity is not disturbed. Preliminary conclusion (diagnostic summary). According to the anamnesis and objective examination revealed: - delayed physical and neuropsychic development; hypostatura II degree; - catarrhal phenomena from the upper respiratory tract, respiratory failure; - the presence of a pathology of the cardiovascular system (weakening of the II tone over the pulmonary artery, a coarse systolic murmur, an established diagnosis of "congenital heart disease"); - manifestations of reduced tolerance to food (decreased appetite, regurgitation); - changes in the central nervous system: restless sleep, increased excitability, emotional lability. IV. DATA OF LABORATORY AND INSTRUMENTAL STUDIES 1. Conclusion on the ECG dated 23/IV 98. The position of the EOS is vertical. Sinus rhythm, heart rate 150/min, signs of overload. I tone is normal, II is weakened over the pulmonary artery. High-frequency, high-amplitude pansystolic murmur, increasing to the II tone, is recorded at all points of auscultation, maximum - in the IV intercostal space on the left. At the apex and in the IV intercostal space on the left - a short mesodiastolic murmur. Tetralogy of Fallot. Exclude OAP. 2. Examination by an otorhinolaryngologist 23/IV 98 Conclusion: pathology of ENT organs was not revealed. 3. Complete blood count dated 23/IV 98. Erythrocytes - 4.05 T/l Hemoglobin - 124 g/l Color index - 0.93 Leukocytes - 4.2 G/l Eosinophils - 4% Segmented - 15% Monocytes - 6% Lymphocytes - 75% ESR - 2 mm/h Conclusion: anemia I degree, leukopenia, lymphocytosis, neutropenia. 4. General analysis of urine from 23/IV 98. Color - colorless Reaction acidic Specific gravity - little urine Transparent Protein - negative Epithelial cells are flat - single in the field of view Leukocytes - 4-5-6 in the field of view Oxalates ++ Mucus + Conclusion: oxalaturia. 5. Coprogram dated 23/IV 98 Consistency - decorated Color yellow Digestible muscle fibers + Fatty acids ++ Soaps + Conclusion: no pathology. 6. Blood test for clotting time and acid-base balance from 24/IV 98. Blood clotting - 12"30" Hematocrit - 39% pH = 7.31 pCO2 = 39.5 mmHg BE = -5.9 Conclusion: compensated acidosis. 7. Biochemical blood test dated 24/IV 98. Total protein - 59.0 g/l Potassium - 5.1 mmol/l Sodium - 137 mmol/l Calcium - 2.14 mmol/l Conclusion: hypoproteinemia, hypocalcemia. 8. X-ray of the lungs dated 24/IV 98. Pulmonary pattern is significantly enhanced due to hypertension. Roots are structureless. The sinuses are free. The heart is enlarged in diameter to the left. 9. Neurosonography from 24/IV 98. Brain structures are located correctly, brain structures of increased echo density. The ventricular system is not expanded. Vascular plexuses without features. Interhemispheric fissure 4.0 mm. Focal changes in the basal ganglia and brain matter were not detected. 10. Echocardiography from 24/IV 98. An increase in the right cavities of the heart, a high membranous ventricular septal defect, hypoplasia of the pulmonary artery trunk with an acceleration of blood flow in it up to 3.6 m/s with PGav=50 mm Hg. Dextroposition of the aorta. Conclusion: Fallot's tetrad. 11. Blood test for antibodies to HIV from 27/IV 98. The result is negative. 12. Urinalysis according to Nechiporenko dated 27/IV 98. Leukocytes - 250/ml Erythrocytes - 0 Cylinders - 0 Conclusion: no pathology. TEMPERATURE SHEET BH Ps T 50 160 40 40 150 39 30 140 38 25 130 37 20 120 36 V. OBSERVATION DIARY |Date, T, | Patient examination data | Appointments| |Ps, BH | | | |27. 04.98 | Severe condition on the main | Diet therapy. | | T=36.8 | disease. Complaints about restless | Nitrosorbide. | | BH = 34 | sleep, poor appetite. Cyanosis | Triampur. | | Ps=136 | nasolabial triangle at rest, | Panangin. | | | General purple cyanosis with | Cefazolin. | | | anxiety. Internal organs - | Furacilin-adrenaline | | | no change. | | new drops in the nose. | | | | |Luminal. | | 04/28/98 | Severe condition. Complaints about infrequent | The same. | | T=37.0 | cough, fever. | | | BH = 42 | The child is lethargic, physical activity | | | Ps=144 | reduced, noted muscle | | | | | hypotension. On the internal organs - without | | | | changes. | | | 04/29/98 | Stable condition. Temperature with | Same. | | T=39.6 - 37.0 | am febrile, then decreased to | | | | Subfebrile figures. | Feeling not | | | BH = 48 | worse. Sucks willingly, the amount of food | | | Ps=160 | assimilates, does not spit up. Cough | | | | Rare. | There are no edema. Wheezing in the lungs | | | | No. | Systolic noise former | | | | Properties. | | | | 04/30/98 | At night, stool 3 times, watery. In the morning | The same. | | T=37.3 | no stool. Abdomen soft, rumbling | | | BH = 42 | along the entire intestine. Others | | | Ps=164 | Complaints are the same. By organs - without | | | | changes. | | Conclusion During the curation of improvement of the condition is not observed. VI. DIFFERENTIAL DIAGNOSIS Tetradu of Fallot must be differentiated from another common defect - transposition of the great vessels, since these conditions have similar clinical signs: - pronounced cyanosis; - shortness of breath; - shortness of breath-cyanotic attacks during anxiety; - malnutrition; - delayed psychomotor development, muscle hypotension; - signs of overload of the right heart on the ECG. Cyanosis, which manifests itself from the moment of birth, is more typical for transposition of the great vessels than for Fallot's tetrad, but the patient has a number of signs that are not characteristic of transposition, namely: - coarse systolic organic murmur with a maximum in the third or fourth intercostal space on the left, carried out on vessels of the neck, in the axillary region and on the back; - weakening of the II tone over the pulmonary artery. When making a diagnosis of Fallot's tetrad, it is also necessary to exclude the possibility of congenital non-rheumatic carditis, which is characterized by a lag in physical development, lethargy, pallor, fatigue, and systolic murmur. In favor of congenital carditis, a history of acute respiratory viral infections in the second half of pregnancy may indicate. However, the patient does not have the following symptoms characteristic of carditis caused by inflammatory changes in the myocardium: - deafness of heart tones; - left ventricular failure, accompanied by hypertension in the pulmonary circulation (emphasis II tone over the pulmonary artery); - systolic murmur, characteristic of mitral insufficiency (secondary mitralization against the background of myocardial damage); - on the ECG - signs of hypertrophy of the left ventricular myocardium, ischemia of its subendocardial divisions, impaired intraventricular conduction, EOS deviation to the left, arrhythmias (tachycardia, blockade, extrasystoles). Reliable confirmation of the diagnosis of "tetralogy of Fallot" is the conclusion of the echocardiogram, which revealed changes characteristic of the defect: - an increase in the right cavities of the heart; - high membranous ventricular septal defect; - hypoplasia of the trunk of the pulmonary artery; - dextroposition of the aorta. VII. DIAGNOSIS AND ITS JUSTIFICATION (FINAL DIAGNOSIS) Clinical diagnosis: Congenital heart disease (tetralogy of Fallot), circulatory failure IIA, primary adaptation phase. Hypostatura II degree, period of progression, postnatal, mixed origin. Residual effects of SARS. The diagnosis is based on the following data: 1. The auscultatory picture characteristic of Fallot's tetrad (weakening of the II tone over the pulmonary artery, the presence of a coarse systolic murmur outside the heart) and data from instrumental methods of investigation (ECG, PCG, echocardiography, radiography). 2. Pallor of the skin, cyanosis of the nasolabial triangle at rest; general purple cyanosis with anxiety, accompanied by shortness of breath. 3. Delay in physical and neuropsychic development caused by the presence of heart disease and nutritional errors. Combined growth retardation and weight gain. 4. Decreased tolerance to food. 5. Increased excitability, psycho-emotional lability, predominance of negative emotions. 6. Muscular hypotension, hyporeflexia. 7. Prolonged low-grade fever, catarrhal phenomena from the upper respiratory tract. VIII. ETIOLOGY AND PATHOGENESIS The reason for the development of congenital heart defects has not been fully elucidated. The frequency of such anomalies is approximately 1/120 live births. An undoubted role in their occurrence is played by a genetic, hereditary predisposition. For example, it is known that children with trisomy 13 or trisomy 18 tend to have severe heart disease. Congenital heart defects can also be observed in other hereditary diseases: Down syndrome (trisomy 21), Turner-Shereshevsky syndrome (CW), Holt-Oram syndrome. Congenital heart disease can be caused by maternal disease (eg, diabetes mellitus or systemic lupus erythematosus), environmental teratogens (eg, thalidomide), or a combination of these factors. Viral infections (including subclinical ones) transferred by a woman in the first 3 months of pregnancy are important: rubella, influenza, infectious hepatitis. In general, it is considered that the risk of having a child with heart disease in the presence of one patient of the first degree of kinship in the family is about 2-3%; for children of sick parents, this risk is higher. In the presence of a normal healthy heart after the neonatal period (when the cardiovascular system is reorganized with the closure of the foramen ovale and arterial duct, a decrease in pulmonary vascular resistance to a level characteristic of adults), the large and small circles of blood circulation are completely separated, and intracardiac pressure in the right chambers is lower than in the corresponding left. The degree of violation of these ratios determines the hemodynamic consequences of congenital heart defects. The following congenital heart defects are distinguished: - with overflow of the pulmonary circulation; - with depletion of his blood; - with normal pulmonary circulation, sometimes with depletion of the systemic circulation. Tetralogy of Fallot refers to vices with impoverishment of the small circle. In the classic variant of Fallot's tetrad, 4 signs are found: - stenosis of the right ventricular outlet at various levels; - ventricular septal defect; - right ventricular myocardial hypertrophy; - dextroposition of the aorta. The presence of these anatomical changes determines the peculiarities of hemodynamics in such patients: - from the right ventricle, blood enters the narrowed pulmonary artery and the aorta "sitting astride" on the interventricular septum; - blood enters the aorta from the left (arterial) and from the right (venous) ventricles. cyanosis develops as a result of limited blood supply to the pulmonary circulation and its significant discharge from the right ventricle into the aorta. The severity of cyanosis depends on the absolute amount of unsaturated hemoglobin, its recognition can be difficult in anemia. As a result of a prolonged reduced saturation of arterial blood with oxygen, "drum sticks", "watch glasses" develop; - overload of the right ventricle occurs. The development of right ventricular hypertrophy is especially affected by its adaptation to pressure in the aorta; - gradually there is a compensatory collateral circulation between the large circle and the lungs, which is carried out mainly through the dilated arteries of the bronchi, chest wall, pleura, pericardium, esophagus and diaphragm; - over time, polycythemia develops (erythrocytes up to 8 T/l, hemoglobin up to 250 g/l). IX. TREATMENT AND ITS RATIONALE Treatment of this patient should consist of the treatment of heart disease and associated circulatory failure, treatment of hypostatura (hypotrophy), treatment of acute respiratory viral infections. Radical elimination of the defect is possible only by surgery. It is also possible to perform a palliative operation (applying an aortopulmonary anastomosis), but it is necessary only in the case when dyspnea-cyanotic attacks are not stopped by conservative therapy, there is a lag in physical development or low mobility against the background of severe hypoxemia, or the anatomical structure of the defect does not allow radical correction. In any case, indications and contraindications for surgery should be established only after the treatment of other diseases. Diet therapy. It is aimed mainly at the treatment of malnutrition. When prescribing dietary nutrition, two basic principles must be observed: 1. The principle of "rejuvenation" of food, i.e. use of human milk or adapted formulas intended for an earlier age. This achieves sparing of the alimentary canal from the re-irritating effect of food. 2. The principle of two-phase nutrition: - the period of clarification of tolerance to food, taking into account the individual characteristics of the body; - a period of transitional and optimal nutrition that meets the needs of reparation, continued growth and development of the child. Ek54 Exemplary variant of diet therapy. Daily amount of food = 1/7 of body weight = 600 ml. Diet - seven times in 3 hours with a night break of 6 hours. The main food is whole milk, 90 ml per feeding. In the second feeding - cottage cheese 20.0, egg yolk - 1/2. Between feedings - liquid as needed (glucose-salt solutions, vegetable and fruit decoctions, tea). 6.00 - milk 90 ml 9.00 - milk 90 ml, cottage cheese 20.0, egg yolk 1/2 12.00 - milk 90 ml 15.00 - milk 90 ml 18.00 - milk 90 ml 21.00 - milk 90 ml 24.00 - milk 90 ml In the future, with the normalization of tolerance indicators, complementary foods should be introduced, starting with vegetable puree, and then porridge. Medical therapy. Treatment of heart failure. Digoxin used before curation should be discontinued, since in Fallot's tetrad they can increase the tendency of pulmonary artery stenosis to spasm by increasing the inotropic function of the myocardium. 1. Nitrosorbide 0.001 4 times a day. The drug of the antianginal group. It has also been used as a peripheral vasodilator in heart failure. By reducing the tone of peripheral venous vessels (venules), the drug reduces venous blood flow to the heart, pressure in the vessels of the small circle, shortness of breath, cyanosis. 2. Triampur 1/4 tablet every other day. The drug of the group of potassium-sparing diuretics. Reduces the permeability of the cell membranes of the distal tubules for sodium ions and enhances their excretion in the urine without increasing the excretion of potassium ions. It is used to relieve edema in heart failure. 3. Panangin 1/4 tablet 3 times a day. A preparation containing potassium aspartate and magnesium aspartate. It can be used in conjunction with digitalis preparations for the prevention of hypokalemia. Potassium ions have the ability to somewhat reduce tachycardia. Treatment of SARS, prevention of secondary bacterial infection. 1. Cefazolin 100 thousand 2 times / m (from 29/IV - 200 thousand) Cephalosporin antibiotic of the first generation. Has a wide spectrum of action. 2. Furacilin-adrenaline nasal drops 2 drops 3 times a day. They have a vasoconstrictive and antiseptic effect. Used in acute rhinitis to facilitate nasal breathing. To stop the manifestations of the central nervous system (restless sleep, increased excitability), it is advisable to prescribe Luminal 0.1% solution, 1 teaspoon 2 times a day. The drug belongs to anticonvulsants, in small doses it has a calming and hypnotic effect. X. EPICRISIS Baushin x, 5 months old, is on inpatient treatment at the clinic "Mother and Child". Admitted to the clinic April 22, 1998 with a diagnosis of SARS, congenital heart disease (tetralogy of Fallot). After the examination, a clinical diagnosis was made: congenital heart disease (tetralogy of Fallot), circulatory failure IIA, primary adaptation phase. Hypostatura II degree, period of progression, postnatal, mixed origin. Residual effects of SARS. The following treatment was prescribed: diet therapy, nitrosorbide, triampur, panangin, cefazolin, furacilin-adrenaline nasal drops, luminal. The treatment is tolerated without complications, but there is no improvement in the condition during curation. It is recommended to continue treatment. DATE Curator's signature May 4, 1998.Please upload images/files only to our website.
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The English physician John Langdon Down was the first to describe and characterize the syndrome, later named after him, in 1862, as a form of mental disorder. The concept became widely known after he published a report on this topic in 1866. Because of the epicanthus, Downe used the term Mongoloids (the syndrome was also called "Mongolism"). The notion of Down syndrome was very tied to racism up until the 1970s.
Mate Rivolla of the University of Bordeaux discovered in a necropolis near a church in Chalons-sur-Saone the remains of a child with Down syndrome characteristic anomalies, who lived about 1500 years ago, which is the oldest known case of Down syndrome. She noted that the nature of the burial was no different from the rest, which means that people with the syndrome, most likely, were not subjected to social stigmatization. John Starbuck of Indiana University, studying the Toltec figurine, suggested that it depicts a person with Down syndrome.
In the twentieth century, Down syndrome became quite common. People with Down syndrome have been observed, but only a small part of the symptoms could be stopped. Most people with Down syndrome died as infants or children. Since the emergence of the eugenics movement, 33 of the 48 US states and a number of other countries have begun programs to involuntarily sterilize individuals with Down syndrome and comparable degrees of disability. It was also part of the T-4 killing program in Nazi Germany. Litigation, scientific advances, and public outcry led to the cancellation of such programs in the decade following the end of World War II.
Until the middle of the 20th century, the causes of Down syndrome remained unknown, but the relationship between the likelihood of having a child with Down syndrome and the age of the mother was known, and it was also known that all races were affected by the syndrome. There was a theory that the syndrome was caused by a combination of genetic and hereditary factors. Other theories were that it was caused by trauma during childbirth.
With the discovery in the 1950s of technologies to study the karyotype, it became possible to determine chromosome anomalies, their number and shape. In 1959, Jérôme Lejeune discovered that Down syndrome is due to trisomy 21.
In 1961, eighteen geneticists wrote to the editor of The Lancet that Mongolian idiocy was "misleading" and that it was "an awkward term" and should be changed. "The Lancet" maintains the name "Down Syndrome". The World Health Organization (WHO) officially dropped the name "Mongolism" in 1965 after an appeal by Mongolian delegates. However, even 40 years later, the name "Mongolism" appears in leading medical benefits, for example, in Pervasive and Systematic Pathologies, 4th Edition (2004), edited by Professor Sir James Underwood. Down syndrome advocates and parents have welcomed the removal of the Mongoloid label placed on their children. The first group in the US, the Mongoloid Development Council, changed its name to the National Down Syndrome Association in 1972.
In 1975 National Institute The United States Health Service held a conference on the standardization of nomenclature. They recommended the elimination of the possessive form:
It is required to stop using the possessive form in relation to the eponym, since the discoverer did not suffer from this disorder.
Despite this, the name "Down syndrome" is still used in all countries.
down syndrome age mother
Syndro?m Da?una (trisomy on chromosome 21) is one of the forms of genomic pathology, in which most often the karyotype is represented by 47 chromosomes instead of the normal 46, since the chromosomes of the 21st pair, instead of the normal two, are represented by three copies. There are two more forms of this syndrome: translocation of chromosome 21 to other chromosomes (more often to 15, less often to 14, even less often to 21, 22 and the Y chromosome) - 4% of cases, and a mosaic version of the syndrome - 5%.
The syndrome was named after the English physician John Down, who first described it in 1866. The connection between the origin of the congenital syndrome and the change in the number of chromosomes was revealed only in 1959 by the French geneticist Jérôme Lejeune.
The word "syndrome" means a set of signs or characteristics. When using this term, the form "Down's syndrome" is preferable to "Down's disease".
The first International Down Syndrome Day was held on March 21, 2006. The day and month were chosen according to the pair number and the number of chromosomes.
Story
John Langdon Down
The English physician John Langdon Down was the first to describe and characterize the syndrome, later named after him, in 1862, as a form of mental disorder. The concept became widely known after he published a report on this topic in 1866. Because of the epicanthus, Down used the term Mongoloids (the syndrome was also called "Mongolism"). The notion of Down syndrome was very tied to racism up until the 1970s.
In the twentieth century, Down syndrome became quite common. Patients were observed, but only a small part of the symptoms could be stopped. Most patients died as infants or children. With the emergence of the eugenics movement, 33 of the 48 American states and a number of other countries began programs for the forced sterilization of persons with Down syndrome and comparable degrees of disability. It was also part of the T-4 killing program in Nazi Germany. Litigation, scientific advances, and public outcry led to the cancellation of such programs in the decade following the end of World War II.
Until the middle of the 20th century, the causes of Down syndrome remained unknown, but the relationship between the likelihood of having a child with Down syndrome and the age of the mother was known, and it was also known that all races were affected by the syndrome. There was a theory that the syndrome was caused by a combination of genetic and hereditary factors. Other theories were of the opinion that it was caused by trauma during childbirth.
With the discovery in the 1950s of technologies to study the karyotype, it became possible to determine chromosome anomalies, their number and shape. In 1959, Jérôme Lejeune discovered that Down syndrome is due to trisomy 21.
In 1961, eighteen geneticists wrote to the editor of The Lancet that Mongolian idiocy was "misleading" and that it was "an awkward term" and should be changed. The Lancet supports the name "Down's Syndrome". The World Health Organization (WHO) officially dropped the name "Mongolism" in 1965 after an appeal by Mongolian delegates. However, even 40 years later, the name "Mongolism" appears in leading medical textbooks, such as "Public and Systematic Pathologies" 4th edition (2004), edited by Professor Sir James Underwood. Defenders of the rights of the sick and parents of the sick welcomed the elimination of the Mongoloid label hung on their children. The first group in the US, the Mongoloid Development Council, changed its name to the National Down Syndrome Association in 1972.
Epidemiology
Down syndrome is not a rare pathology - on average, there is one case in 700 births; at the moment, due to prenatal diagnosis, the frequency of children born with Down syndrome has decreased to 1 in 1100. In boys and girls, the anomaly occurs with the same frequency.
The rate of births of children with Down syndrome is 1 in 800 or 1000. In 2006, the Centers for Disease Control and Prevention estimated it to be one in 733 live births in the United States (5429 new cases per year). About 95% of them have trisomy of the 21st chromosome. Down syndrome occurs in all ethnic groups and among all economic classes.
The age of the mother affects the chances of conceiving a child with Down syndrome. If mothers are between 20 and 24, the chance is 1 in 1562; if mothers are between 35 and 39, then 1 in 214; are born to women under the age of 35. This is due to the higher birth rate in this age group. According to recent data, paternal age, especially if older than 42 years, also increases the risk of the syndrome.
Modern studies (as of 2008) have shown that Down syndrome is also caused by random events in the process of germ cell formation and / or pregnancy. Parental behavior and factors environment it is not affected in any way.
After the accident at the Chernobyl nuclear power plant, an increase in the number of congenital pathologies was found in various regions of Belarus between 1986 and 1994, but it was approximately the same in both contaminated and clean regions. [source not specified 884 days] In January 1987, an unusual a large number of cases of Down's syndrome, but no subsequent upward trend in incidence was observed.
Pathophysiology
Down syndrome is a chromosomal pathology characterized by the presence of extra copies of genetic material on the 21st chromosome, either completely (trisomy) or partially (for example, due to translocation). The consequences of having an extra copy vary greatly depending on the extent of the copy, genetic history, and pure chance. Down syndrome occurs in both humans and other species (for example, it has been found in monkeys and mice). More recently, researchers have bred transgenic mice with the presence of the 21st human chromosome (in addition to the standard set of mice). The addition of genetic material can be carried out in different directions. typical human
the karyotype is designated as 46,XY (male) or 46,XX (female) (the difference in the field is carried by the Y chromosome).
Trisomy
Trisomy is the presence of three homologous chromosomes instead of a normal pair.
Down syndrome and similar chromosomal abnormalities are more common in children born to older women. The exact reason for this is unknown, but it seems to be related to the age of the mother's eggs.
Trisomy occurs because the chromosomes do not separate during meiosis. When fused with a gamete of the opposite sex, the embryo produces 47 chromosomes, and not 46, as without trisomy.
Trisomy of the 21st chromosome in 95% of cases is the cause of Down syndrome, and in 88% of cases due to nondisjunction of maternal gametes and in 8% of male gametes.
mosaicism
Trisomy is usually caused by non-disjunction of chromosomes during the formation of the parent's germ cells (gametes), in which case all cells of the child's body will carry the anomaly. In mosaicism, nondisjunction occurs in the cell of the embryo at the early stages of its development, as a result of which the karyotype disorder affects only some tissues and organs. This variant of the development of Down syndrome is called "mosaic Down syndrome" (46, XX/47, XX, 21). This form of the syndrome is usually milder (depending on the extent of the altered tissues and their location in the body), but more difficult for prenatal diagnosis.
According to this type, the syndrome appears in 1-2% of cases.
Robertsonian translocations
The extra material on the 21st chromosome that causes Down syndrome may appear due to Robertsonian translocations in the karyotype of one of the parents. In this case, the long arm of the 21st chromosome is attached to the arm of another chromosome (most often the 14th). The phenotype in a person with Robertsonian translocations is normal. During reproduction, normal meiosis increases the chance of trisomy 21 and the birth of a child with Down syndrome. Translocations with Down syndrome are often referred to as familial Down syndrome. This does not depend on the age of the mother and rather shows the equal role of parental organisms in the occurrence of Down syndrome. This type of appearance of the syndrome takes 2-3% of all cases.
Forms of Down syndrome
In about 91% of cases, a non-hereditary variant of the disease occurs - a simple complete trisomy of chromosome 21, due to non-disjunction of chromosomes during meiosis. Approximately 5% of patients have mosaicism (not all cells contain an extra chromosome). In other cases, the syndrome is caused by a sporadic or inherited translocation of the 21st chromosome. As a rule, such translocations result from the fusion of the centromere of the 21st chromosome and another acrocentric chromosome. The phenotype of patients is determined by trisomy 21q22. The recurrent risk of having a child with Down syndrome in parents with a normal karyotype is about 1% with normal trisomy in a child.
Information about these rare forms is important for parents, as the risk of having other children with Down syndrome is different in different forms. However, these differences are not so important for understanding the development of children. Although professionals tend to believe that children with a mosaic form of Down syndrome lag behind in their development less than children with other forms of this syndrome, there are still no sufficiently convincing comparative studies on this topic.
Diagnostics
A pregnant woman may be screened for fetal abnormalities. Many routine prenatal examinations can detect Down syndrome in a fetus. For example. there are specific ultrasound signs of the syndrome. Genetic consultations with genetic tests (amniocentesis, chorionic biopsy, cordocentesis) are usually offered to families with the greatest risk of having a child with Down syndrome. In the US, invasive and non-invasive examinations are available to all women, regardless of their age. However, invasive examinations are not recommended if the woman is over 34 years of age and non-invasive examinations have not shown probable abnormalities.
Amniocentesis and chorionic biopsy are considered invasive examinations, since during them various instruments are inserted into the uterus of a woman, which carries some risk of damage to the uterine wall, fetus, or even miscarriage. The risk of miscarriage with chorionic biopsy is 1%, with amniocentesis - 0.5%. There are several non-invasive examinations, and they are usually performed at the end of the first or beginning of the second trimester. In each of them there is a chance of getting a false positive result, that is, the examination will show that the fetus has Down syndrome, although in fact it is healthy. Even with the best examinations, the probability of detecting the syndrome is 90-95%, and the false-positive rate is 2-5%.
At the moment, aminocentesis is considered the most accurate examination. To obtain results, a woman needs to take an amniotic fluid for analysis, in which fetal cells are later detected. Lab work may take several weeks, but the probability of a correct result is 99.8%. The false positive rate is very low.
Characteristic features commonly associated with Down syndrome
Typically, Down syndrome is accompanied by the following external signs (according to data from the Downside Up Center brochure):
1) "flat face" - 90%
2) brachycephaly (abnormal shortening of the skull) - 81%
3) skin fold on the neck in newborns - 81%
4) epicanthus (vertical skin fold covering the medial canthus) - 80%
5) joint hypermobility - 80%
6) muscular hypotension - 80%
7) flat nape - 78%
8) short limbs - 70%
9) brachymesophalangia (shortening of all fingers due to underdevelopment of the middle phalanges) - 70%
10) cataract over the age of 8 years - 66%
11) open mouth (due to low muscle tone and the special structure of the palate) - 65%
12) dental anomalies - 65%
13) clinodactyly of the 5th finger (curved little finger) - 60%
14) arched ("Gothic") palate - 58%
15) flat nose bridge - 52%
16) furrowed tongue - 50%
17) transverse palmar fold (also called "monkey") - 45%
18) short wide neck - 45%
19) CHD (congenital heart disease) - 40%
20) short nose - 40%
21) strabismus (strabismus) - 29%
22) chest deformity, keeled or funnel-shaped - 27%
23) age spots along the edge of the iris = Brushfield spots - 19%
24) episyndrome - 8%
25) stenosis or atresia of the duodenum - 8%
26) congenital leukemia - 8%.
Accurate diagnosis is possible on the basis of a blood test for a karyotype. Diagnosis cannot be made based solely on external signs.
Prospects for the development of a child / adult with Down syndrome
The degree of manifestation of mental retardation and speech development depends both on congenital factors and on activities with the child. Children with Down Syndrome are teachable. Classes with them according to special methods, taking into account the peculiarities of their development and perception, usually lead to good results.
The life expectancy of adults with Down syndrome has increased - today the normal life expectancy is over 50 years. Many people with this syndrome marry. Men have a limited sperm count, and most men with Down syndrome are infertile. Women have regular periods. At least 50% of women with Down syndrome can have children. 35-50% of children born to mothers with Down syndrome are born with Down syndrome or other abnormalities.
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