Case study 1
An 11-day-old boy is hospitalized with complaints of shortness of breath and fatigue. From the anamnesis it is known that the child is from 3 term births. Apgar 8/9b. Birth weight is 3.74, height is 53 cm. Heart murmur was heard on the 2nd day of life. Shortness of breath since birth. The child is breastfed on demand. Digests feeding. On admission: Height = 53 cm. Weight = 3.654 kg. No edema. Skin color: pale pink, cyanosis of the nasolabial triangle. Mucous membranes: pale pink. Lymph nodes: not enlarged. The size of the anterior fontanelle is 2 x 2 cm. There are no congenital malformations or developmental defects. Examination of the heart and large vessels: cardiac hump. Systolic thrill, to the left of the sternum. Respiratory rate - 60 bpm. Puerile breathing is heard throughout. No wheezing. Apical impulse is diffuse on the left at 4-5 m/r. Auscultation: Heart sounds are rhythmic, 1st heart sound is normal, 2nd heart sound is increased, heart rate is 150 bpm. Systolic murmur is 4/6 along the left sternal border. Pulse rate is 150, quality and volume are satisfactory, pulsation in the upper and lower extremities is distinct. Systolic blood pressure is equal in the arms and legs – 90 mmHg . The liver is located on the right, borders +4 cm. The spleen is not palpable.
gas composition (capillary): pH – 7.46, pCO2 – 28.8 mmHg , pO2 – 63.4 mmHg , SAT O2 – 93%
Radiologically: - pulmonary pattern is increased, hypervolemia, CTI is 68%, due to the left ventricle, left atrium, the vascular bundle is dilated.
ECG: sinus rhythm, heart rate – 170/min, right axis axis, PQ – 0.12”, QRS – 0.08”, incomplete right bundle branch block, QT – 0.24”, signs of combined overload of all parts of the heart.
Exercise:
1. Formulate a preliminary diagnosis.
2. What are the signs and degree of circulatory failure?
3. Is drug therapy indicated in this case?
4. What is the patient’s treatment and rehabilitation tactics?
5. Is it possible to give this child preventive vaccinations?
Answer:
1. Preliminary diagnosis
Congenital heart defect: large ventricular septal defect (VSD) with left-to-right shunt.
Stage IIA heart failure. Pulmonary hypertension (initial).
Justification:
2. Signs and degree of circulatory failure
Signs:
Degree: NK IIA (according to the Strazhesko-Vasilenko classification)
Congestion mainly in the pulmonary circulation + moderate enlargement of the liver without edema.
3. Is drug therapy indicated?
Yes, it is shown.
The goal is to reduce the manifestations of heart failure before surgical correction.
Prescribed:
4. Treatment and rehabilitation tactics
1. Mandatory confirmation of diagnosis:
2. The primary tactic is surgical correction.
For a large VSD, surgery is indicated in the first months of life (usually before 3–6 months); with progressive heart failure, it is indicated earlier.
Possible options:
3. Before surgery:
4. Rehabilitation:
5. Possibility of preventive vaccinations
In the acute period of decompensation - temporary medical exemption.
After the condition has stabilized, vaccination is possible according to an individual schedule.
Live vaccines - as indicated and after consultation with a cardiologist.
Case study 2
A 14-day-old newborn girl from her first pregnancy to a 33-year-old mother with a complicated obstetric and gynecological history (endometriosis, left ovarian cyst, history of infertility, IVF). The pregnancy was accompanied by acute respiratory infections in the first trimester, threatened miscarriage in the second and third trimesters, low placenta, and anemia. From one premature birth, operative delivery of twins at 31-32 weeks . Breech presentation of both fetuses, partial detachment of the located placenta. She was born with an Apgar score of 6/6 b, URP sanitization in the delivery room, O2 mask. She was born weighing 970 g, and was 36 cm long. From the first day of life, there was an increase in respiratory failure, crepitations over all lung fields, and she was transferred to mechanical ventilation. She received curosurf, pentaglobin , and pulmicort inhalations . Congenital heart disease with intravascular coagulation hypervolemia was detected. Drug therapy (indomethacin for 3 days, diuretics) was ineffective. The patient was admitted to the cardiac surgery department for surgical treatment of congenital heart disease. Objectively : the skin is pale pink, clean, B.R. 2 x 2 cm. On auscultation, breathing is harsh, weakened on the right. On full mechanical ventilation with a respiratory rate of 40/min. Heart sounds are loud, rhythmic, HR is 140/min, systolic -diastolic murmur to the left of the sternum 2/6. BP - 63/32 mmHg , liver + 4 cm from under the costal 5 kg
It is rarely used in extremely premature babies.
5. Rehabilitation scheme
In the early postoperative period
In the premature baby care unit
Bronchopulmonary dysplasia
Further rehabilitation
6. What specialists should monitor the child?
The first year of life
Mandatory observation:
1. Pediatrician
2. Pediatric cardiologist
scheme:
3. Neurologist
4. Ophthalmologist
(screening for retinopathy of prematurity)
Retinopathy of prematurity
5. Pulmonologist
in the presence of BPD.
Case study 3
A 9-day-old newborn boy was urgently admitted to the hospital. The anamnesis indicates that the child was born at full term to a 29-year-old mother. He is the result of a third pregnancy, which involved acute respiratory infections (ARD) in 1/3, and three term spontaneous deliveries. The Apgar score is 8/9. Birth weight is 4.1 kg, length is 53 cm. A heart murmur was heard at birth. On the 4th day of life, the child was transferred to the neonatal pathology department. He actively sucked and gained weight. From the 6th day of life, his condition worsened: he refused to eat, shortness of breath appeared. On the 8th day of life, the skin was pale, with a gray tint, he refused to eat, and acrocyanosis was increasing . The oxygen test was negative. The child was transferred to the intensive care unit, where a central venous catheter was placed, a vasaprostan infusion was started , and antibacterial therapy was started with a positive effect. On admission: critical condition, swelling of the legs, face, and feet is dense. Skin color: acrocyanosis 2+. Grayness of the skin. Umbilical cord remnant in a staple. Bilateral purulent conjunctivitis . Cyanotic mucous membranes. Lymph nodes are unchanged. Infected miliaria in the groin area. Central venous catheter on the right in the subclavian vein. Dimensions of the anterior fontanelle are 3 x 3 cm. No congenital malformations or developmental defects. Chest: cardiac hump, on the left. Lungs, percussion data: dullness on the right. RR 90 bpm. Breathing is harsh, sharply weakened on the right. Conducted wheezing. Heart sounds are rhythmic, 1st sound is increased, 2nd sound is increased, heart rate 150 beats/min. Murmurs: systolic, intensity 2/6, to the left of the sternum, epicenter at 3-4 m/r. Pulse rate 150. Pulsation on the upper and lower extremities: sharply decreased on the legs. Systolic blood pressure: on the left arm - 140, on the right arm - 140, on the left leg - 40, on the right leg - 40. The tongue is clean. The liver is located on the right, +6 cm from under the costal pCO2 23.7; AVE -13; pO2 30.4; Sa 70%. Vein: pH 7.29; pCO2 26.6; AVE -12.3; pO2 25.3; Sa 40%; lactate 8.4. According to echocardiography: LVEF - 46% Task: 1. Formulate a preliminary diagnosis. 2. What are the complications of the underlying disease? 3. What concomitant pathology is present? 4. Have any tactical errors been made? If yes, what are they? 5. What are your further actions?
Answers
(Newborn 9 days old, critical condition)
1. Preliminary diagnosis
Congenital heart defect: critical coarctation of the aorta (infantile, ductus -dependent form).
Acute circulatory decompensation. Cardiogenic shock. Metabolic acidosis.
2. Justification of diagnosis
🔹 Anamnestic data:
🔹 Clinical signs:
🔹 Laboratory:
🔹 Instrumentally:
3. Complications
4. Tactical errors
Late diagnosis of ductus -dependent malformation.
Lack of early echocardiography when murmurs were detected in the maternity hospital.
5. Further tactics
6. Forecast
With timely surgery, the outcome is favorable.
Without treatment, the mortality rate is high.
Case Study 4
A 2-day-old boy is admitted to the hospital as an emergency. The anamnesis shows that the child is from a second pregnancy, which was accompanied by a threat of miscarriage in 1/3, and from two spontaneous deliveries in the cephalic presentation. Apgar score is 8/9. Birth weight = 4.75 kg, height = 59 cm. One hour after birth, gray skin color and acrocyanosis are noted . There are no signs of respiratory failure. Respiratory rate is 40/min. Heart sounds are loud, heart rate is 134/min. No murmurs are heard. Systolic blood pressure is 51 mmHg , SAT O2 on the monitor is 75%. Oxygen test is negative. Vasaprostan infusion is established at a dose of 0.03 mcg/kg/min. During infusion therapy, saturation increases to 82%. Clinical blood analysis: HB - 222, ER - 5.51, TR - 221, L-24.9
Exercise:
1. Formulate a preliminary diagnosis?
2. What diseases will you conduct differential diagnostics with?
3. What additional research methods are needed?
4. What should you pay attention to when performing echocardiography?
5. What are the possible complications of conservative therapy?
Answers
(Newborn 2 days old, severe cyanosis)
1. Preliminary diagnosis
Congenital heart defect: transposition of the great arteries (TGA), ductus -dependent form.
Hypoxemia of the newborn.
2. Justification of diagnosis
🔹 Clinic:
🔹 Reaction to prostaglandin:
🔹 TMA Features:
3. Differential diagnostics
4. Necessary examinations
5. What to look for during echocardiography
6. Treatment tactics
7. Complications of prostaglandin therapy
Case Study 5
A full-term boy was hospitalized at 13 days of life. Anamnesis data: born by cesarean section 7/8 according to the Apgar scale to a 27-year-old mother with an active form of systemic lupus erythematosus, which debuted during pregnancy at 5-8 weeks, the mother is a carrier of anti- Ro and anti-LA autoantibodies. Fetal bradycardia has been present since the 20th week of pregnancy. At birth, the condition is severe due to bradycardia of 48-60 bpm. On the 2nd day of life, the child was transferred to City Clinical Hospital, where a diagnosis of neonatal lupus (cardiac form) and a history of carditis with damage to the conduction system of the heart of immune genesis was established. Maternal autoantibodies are detected in the child's blood in high titer ( anti -SS-A ( Ro )> 200, anti -SS-B (La)> 195), including on the Hep-2 medium (1:640sp). PCR - HSV 1 and 2 and CMV were not detected. According to the results of daily ECG monitoring according to Holter - nodal rhythm of 48-67 bpm. On admission, height is 52 cm, weight is 2.9 kg. No edema. Skin color: pale, 'marbled', perioral and periorbital cyanosis. Lymph nodes: not enlarged. Size of the anterior fontanelle is 3 x 3 cm. Degree of hypotrophy is 1-2. There are no congenital malformations, developmental defects. Chest: regular shape. Clear pulmonary sound over all lung fields. Respiratory rate is 48 bpm. Puerile breathing, passes into all sections. No wheezing. Apical impulse: diffuse on the left. Auscultation: Heart sounds are rhythmic, 1st sound is normal, 2nd sound is normal, heart rate is 50 beats/min. Systolic murmur 2/6 is heard to the left of the sternum. HR is 50/min, quality and volume are satisfactory, pulsation in the upper and lower extremities is uniform. Blood pressure (systolic) in the arms and legs is 65 mmHg . The liver is located on the right, the borders are +3 cm from under the edge of the costal arch. The spleen is not palpable. Urine clinical analysis : Color is straw-colored; transparent; Relative density is 1000 units; Reaction is slightly acidic; Epithelium is flat, single; Leukocytes 0-1 in the field of view; Bacteria are in significant quantities. Biochemical analysis of Blood: Total protein 52 g/l; Albumin 30 g/l; Urea 5.5 mmol/l; Creatinine 27.05 μmol/l; Total bilirubin 12.27 μmol/l; Direct bilirubin 3.8 µmol/l; AST - 30 U/l; ALT 22 U/l; Sodium 133 mmol/l; Potassium 5.9 mmol/l. Blood gas composition (capillary): pH 7.48b pCO2 29 mmHg , ABE - 0.4 mmol/l, p02 50 mmHg , Sa02 92.8%. Wedge. an. Blood: Hemoglobin 155 g/l, Red blood cells 4.19 10^12/l, Hematocrit 46.2% Platelets 595 10^9/l Leukocytes 15.6 10^9/l: p.i. 1%, s.i. 53%, eosis 1%, lymph 28%, mon 17%. According to echocardiography: LV is enlarged: ESR 1.0, EDS 2.2 EF 50-54%. LA is enlarged. MC 11.5 (normal 10), thin leaflets. Ao valve is 9 mm (normal 6.5), 3-leaflet valve, thin leaflets, reg 1+, GSP 14 mmHg . Ao ascender is dilated to 16.5 mm. The arch and isthmus are not narrowed. RA and RV are enlarged. RVEF 50%. TC - FC 14 (normal 12), thin leaflets, reg 1+. PA is dilated - trunk 12 mm. MPS 5 mm, LA-RA shunt. No data for PDA. Task:
1. Formulate a preliminary diagnosis.
2. What is the cause of the child's illness? What are the preventive measures?
3. What is the next tactic?
4. What laboratory values are outside the normal range in this patient?
5. Does this child have indications for permanent pacemaker implantation? If so, what are the recommended indications and when is this procedure recommended?
Answers:
1. **Preliminary diagnosis**:
Neonatal lupus in cardiac form (systemic lupus erythematosus of the mother), secondary carditis with damage to the cardiac conduction system in a newborn (bradycardia, nodal rhythm).
2. **Cause of the child’s illness**:
The disease is caused by the presence of maternal autoantibodies ( anti-Ro and anti -La), which cross the placental barrier and cause pathological changes in the fetus, leading to neonatal lupus. Preventive measures include: careful prenatal assessment of mothers with autoimmune diseases and fetal monitoring throughout pregnancy, particularly when signs indicating the risk of cardiovascular disease in the newborn appear.
3. **Further tactics**:
- Conducting cardiac monitoring and ECG analysis to assess conduction and rhythm.
- Treatment of bradycardia using medications (depending on the severity of the condition).
- Prescription of corticosteroid therapy to reduce inflammation.
- Constant monitoring by a cardiologist and neonatologist, as well as the physical development of the child.
- Assessment of the need for further treatment, including possible surgical intervention (e.g., pacemaker installation).
4. **Laboratory parameters outside the normal range**:
- Bradycardia (heart rate 50 beats/min).
- Increased titers of autoantibodies ( anti -SS-A ( Ro )> 200, anti -SS-B (La)> 195).
- Leukocytosis (15.6 10^9/l) with an altered leukocyte formula.
- Low sodium level (133 mmol/L).
- Elevated potassium levels (5.9 mmol/l).
- Degree of hypotrophy.
- Enlarged heart size (specific dimensions are indicated in the echocardiogram).
5. **Indications for implantation of a permanent pacemaker**:
Yes, there are indications. Indications include: severe bradycardia (heart rate less than 60 bpm) and junctional rhythm, which can lead to serious hemodynamic compromise. Surgery should be performed as soon as possible, especially if bradycardia persists (heart rate less than 60 bpm) or there are other symptoms indicating insufficient cardiac output and the risk of developing heart failure. This decision may be made within a few days after inpatient observation and therapy.
Case Study 6
Kirill R., 1 year 4 months old, was admitted to the department complaining of vomiting, abdominal pain, significant loss of appetite, and a 2 kg weight loss over the past 2 months. His medical history indicates that he is the child of his second pregnancy and delivery, which proceeded normally. He developed according to his age. He has been walking since 9 months and has been gaining weight well. At 1 year 2 months of age, he had an acute respiratory viral infection (ARVI), which was accompanied by moderate catarrhal symptoms lasting 5 days (runny nose, cough), along with loose stools, vomiting, and a body temperature of 37.2-37.5°C. Since then, the boy has become lethargic and tired of walking. He had a wet cough, mainly at night. His appetite has significantly decreased. The local pediatrician assessed his condition as asthenic syndrome following an illness. In the general blood test done at the clinic: Hb - 100 g / L, erythrocytes - 3.0 x 1012 / L, leukocytes - 6.4 x 109 / L, p / y - 5%, s / y - 47%, l. - 43%, e. - 2%, m. - 3%, ESR - 11 mm / hour. He was hospitalized with a diagnosis of iron deficiency anemia. On the eve of admission, his condition worsened sharply: he was extremely restless, repeated vomiting was noted, swelling in the legs appeared. On admission, his condition was serious. Lethargy, adynamia, and loss of appetite were observed. The skin is pale, there is cyanosis of the nasolabial triangle, and edema on the shins. Breathing in the lungs is harsh, crepitant wheezing is heard in the lower sections. Respiratory rate is 60 per minute. The boundaries of relative cardiac dullness are expanded to the left up to the anterior axillary line. Heart sounds are muffled, systolic murmur is heard at the apex, heart rate is -160 bpm. Liver +7 cm along the right midclavicular line, spleen +2 cm. Diuresis is decreased. Formed stool. Clinical blood test: Hb - 100 g / l, erythrocytes - 3.0x10 ^ 12 / l, leukocytes - 6.3x10 ^ 9 / l, p / y - 2%, s / y - 48%, l. - 40%, e. - 2%, m. - 8%, ESR - 10 mm / hour. Clinical urine analysis: no pathology.
Exercise:
1. What preliminary diagnosis can be given to a child?
2. Name the most likely etiological factors.
3. Make a plan for additional examination.
4. How can an enlarged liver and swelling in the legs be explained?
5. Name the main principles of treatment and rehabilitation.
Answers:
1. **Preliminary diagnosis:**
Based on the presented data, one can suspect "Heart failure due to iron deficiency anemia, possibly with a concomitant infection."
2. **The most likely etiological factors:**
- Iron deficiency anemia can be caused by insufficient iron intake (insufficient diet) or blood loss (for example, due to hidden gastrointestinal diseases).
- An infection is possible, causing acute respiratory symptoms and non-specific gastrointestinal manifestations (vomiting, diarrhea).
- Asthenic syndrome could have been triggered by a previous infection (ARI), which could have affected the child's general condition and level of immunity.
3. **Additional examination plan:**
- Complete blood count with reticulocyte count to assess the regenerative capacity of the bone marrow.
- Determination of iron levels in the blood serum ( ferritin , transferrin, total iron-binding capacity).
- Ultrasound examination of the abdominal organs to assess the condition of the liver, spleen, and to check for other diseases.
- Fecal occult blood test to rule out gastrointestinal bleeding.
- ECG and echocardiography to assess the cardiovascular system and identify signs of cardiovascular failure.
- Biochemical blood test to assess the functional state of the kidneys and liver (ALT, AST activity, bilirubin).
4. **Enlarged liver and swelling in the legs:**
- Enlargement of the liver ( hepatomegaly ) can be explained by fluid retention in the body against the background of cardiovascular failure and anemia.
- Swelling of the legs may be associated with heart failure (static hemodynamics and insufficient perfusion), as well as with possible hypoproteinemia if the serum protein level is reduced.
5. **Basic principles of treatment and rehabilitation:**
- Restoration of normal iron levels in the body using iron-containing preparations (orally or parenterally, depending on the severity of the condition).
- Introduction of a diet rich in iron and vitamins (especially vitamin C to improve iron absorption).
- Treatment of cardiovascular failure (may include drugs that improve cardiac function and diuretics to relieve swelling).
- Supportive therapy to prevent infections, promotion of proper nutrition to improve general condition.
- Psychological support and rehabilitation measures aimed at restoring the child’s active life, improving his physical condition and adaptation.
Case Study 7
Arsen Ts., 1 year 2 months old, was admitted to the department complaining of decreased appetite, vomiting, weight loss, and a wet cough. His medical history revealed that until 1 year, the child grew and developed according to his age and began walking independently at 10 months. At 11.5 months, he developed an acute respiratory viral infection (ARVI) with a low-grade fever, catarrhal symptoms, and abdominal syndrome (abdominal pain, loose stools). These changes persisted for 7 days. He was treated at home. Two weeks after recovery, the parents noted that the child had become capricious and his skin had become pale. His temperature did not rise. These symptoms were considered to be a manifestation of iron deficiency anemia, and the child was treated with Maltofer at home. Despite the therapy, the condition worsened: symptoms of restlessness and cough at night, vomiting, increased pallor of the skin, a sharp decrease in appetite. The child was hospitalized for examination, diagnosis clarification and treatment. On admission, the condition was serious. The child is lethargic, reluctant to make contact, coughing. The skin is pale with a grayish tint, perioral cyanosis. Respiratory rate is 44 bpm. Percussion sound over the lungs is clear, pulmonary. Crepitation is heard in the lower sections of the lungs along the posterior surface. The cardiac area is visually unchanged. The boundaries of relative cardiac dullness are expanded to the left to the anterior axillary line. Heart rate is 140 bpm. Significant muffling of the 1st heart sound is noted in the apex region. A systolic murmur of medium intensity is heard at the apex, associated with the 1st heart sound, occupying 1/3 of systole. A "gallop rhythm" is heard. During the examination, repeated vomiting was noted. The abdomen was soft. The liver was +6 cm along the right midclavicular line. The edge of the spleen was palpable. There was no visible edema. Urination was free, without urine.
Clinical blood test: Hb - 110 g/l, er. - 4.0x1012/l, leuk . - 5.3x109/l, p/y - 2%, s/y - 56%, l. - 36%, m. - 8%, ESR - 10 mm/hour.
ECG: sinus tachycardia with a heart rate of 140 beats per minute. Low-voltage ECG. Normal electrical axis. Signs of left atrium stress and left ventricular enlargement. Segment depression and T-wave inversion in I, II, aVL , V5, V6. Isolated extrasystoles with a wide QRS complex.
Chest X-ray in frontal projection: increased pulmonary markings. CTI-70%.
D-ECHO-CG: enlarged left ventricle and left atrium. Mitral valve regurgitation 1.5+. Left ventricular ejection fraction -40%.
Exercise:
1. Justify and formulate the most probable diagnosis.
2. What diseases require differential diagnosis?
3. What other additional examinations should be prescribed to the patient?
4. What therapy can be prescribed based on the results of additional examination?
5. What causes the noise over the heart area?
Answers:
1) The most probable diagnosis (rationale)
2) What should be used for differential diagnosis?
3) What other additional examinations should be prescribed?
4) What therapy may be prescribed based on the results of additional examination?
5) What causes the noise over the heart area?
Case Study 8
Artem G., 1 month old. The boy was admitted to the cardiology department after being transferred from the neonatal pathology department for a cardiological examination and selection of therapy. From the anamnesis it is known that the child is from the fourth pregnancy (the three previous pregnancies ended in the birth of boys, who died in the first year of life from heart failure). The pregnancy was physiological. Ultrasound of the fetal heart during pregnancy revealed a cardiac pathology in the form of myocardial hypertrophy. Natural labor, term. Body weight at birth is 2900 g, length is 50 cm. He cried immediately. From birth, a systolic murmur was heard over the heart area. For examination, the child was transferred to the neonatal pathology department, where he stayed for a month and from where he was transferred to the cardiology department with a diagnosis of congenital carditis. Family history. The boy's parents are healthy. Two paternal uncles of the proband died in early childhood. On examination: the boy's condition is quite serious. The skin is clear and of normal color. Cyanosis of the nasolabial triangle. There is pronounced deformation of the chest according to the "heart hump" type. Respiratory rate is 72 per minute, retraction of the jugular fossa and intercostal spaces. Breathing is harsh, scattered crepitations are heard on deep inspiration. Heart rate is 160 per minute. The boundaries of relative cardiac dullness are expanded to the left up to the anterior axillary line. Heart sounds are accentuated, a coarse systolic murmur with the epicenter at the Botkin- Erb point is heard . Pulsation of peripheral vessels is satisfactory. The abdomen is soft, b/b. The liver is +5.0 cm along the right midclavicular line. The spleen is not palpable. There is no edema. Examination results: Clinical blood test: Hb - 130 g / l, erythrocytes. - 4.0x1012 / l, leukocytes . - 8.3x109/l, p/y-4%, s/y-40%, l.-49%, e.- 3 m.-4%, ESR-9 mm/hour.
ECG: sinus tachycardia with a heart rate of 152 beats per minute. Normal electrical axis. Signs of left atrial strain and left ventricular hypertrophy. Segment depression and T-wave inversion in I, II, aVL , V5, V6. Prolonged ventricular electrical systole (QT interval - 0.36 sec).
D-ECHO-CG: the left ventricular cavity is reduced. Marked hypertrophy of the myocardium of the interventricular septum and, to a lesser extent, the posterior wall of the left ventricle is noted. TM of the interventricular septum (diastole) is 16 mm (normal up to 6 mm); TM of the left ventricular wall (diastole) is 10 mm (normal up to 6 mm); LV/aorta gradient is 70 mmHg . LVEF is 80%. Mitral valve regurgitation is 1+. No data on congenital heart disease.
Exercise:
1. Justify and formulate the most probable diagnosis.
2. Conduct differential diagnostics.
3. What additional examinations should be prescribed to the patient?
4. What changes can be obtained as a result of additional examination?
5. Which group of medications is most indicated for the child in this case?
6. What causes the noise over the heart area?
7. Possible outcomes.
Answers:
(Boy, 1 month old, family history)
1. Preliminary diagnosis
Primary hypertrophic cardiomyopathy (obstructive form), familial type.
Chronic heart failure stage IIA.
2. Justification
🔹 Genealogical history:
(suspected autosomal dominant inheritance)
🔹 EchoCG :
→ Classic picture of the obstructive form of HCM.
🔹 ECG:
3. Differential diagnosis
4. Additional examination
5. Treatment
Drugs of choice:
Contraindicated:
6. Cause of noise
Subaortic obstruction of the LV outflow tract due to asymmetric hypertrophy of the interventricular septum.
7. Possible outcomes
Case Study 9
Serezha S., 7 days old, was transferred from the maternity hospital to the neonatal pathology department on the 5th day of life with suspected congenital heart disease due to a systolic murmur over the heart area heard on the 2nd day of life. The anamnesis indicates that the child is from the 4th pregnancy (the 1st pregnancy ended in birth, the 7-year-old child is healthy; the 2nd and 3rd pregnancies resulted in spontaneous miscarriages). The child's mother suffers from type 1 diabetes mellitus and is being monitored by an endocrinologist. During the current pregnancy, she did not follow the prescribed diet regularly, and her blood glucose level reached 12 mmol/L. Due to the presence of a large fetus, which was detected during an ultrasound, delivery was performed by cesarean section at 38 weeks of gestation. Birth weight: 4800 g, length 58 cm, Apgar score 7/8 points. He cried out after suctioning of mucus and respiratory support in the form of oxygen administration through nasal cannulas. Motor activity and muscle tone are reduced. On the 2nd day of life, cyanosis of the nasolabial triangle was noted, a systolic murmur of medium intensity began to be heard along the left edge of the sternal bone, respiratory rate - 60 bpm, heart rate - 144 bpm. No wheezing is heard in the lungs. The liver + 2 cm from under the edge of the costal arch, the spleen is not palpable, there is no edema. Pulsation of peripheral vessels is satisfactory. Examination results: Clinical blood test: Hb - 140 g / l, erythrocytes - 4.5x1012 / l, leukocytes - 7.3x109 / l, p / y - 5%, s / y - 60%, l. - 30%, e - 2%, m. - 3%, ESR - 5 mm / hour.
Blood biochemistry: glucose - 2.1 mmol /l, CRP - negative .
ECG: sinus tachycardia with a heart rate of 140 bpm. Normal position of the electrical axis of the heart. Signs of left ventricular enlargement. Segment depression and T-wave inversion in I, II, aVL , V5, V6. D-ECHO-CG: the left ventricular cavity is significantly reduced. Significant thickening of the myocardium of the posterior wall of the left ventricle and interventricular septum is noted (IVS myocardial thickness is 14 mm, left ventricular posterior wall myocardium thickness is 12 mm). LV/Aorta pressure gradient is 37 mmHg. Mitral valve regurgitation 1.0+. Left ventricular ejection fraction is -70%. Diastolic function of the left ventricular myocardium is impaired. No data on congenital heart disease were found.
Task:
1. Justify and formulate the most probable diagnosis.
2. What is the pathogenesis of this disease?
3. Conduct differential diagnostics.
4. Does the child need additional examination? Develop a plan. 5. Develop a treatment plan.
6. Which group of medications is most appropriate for this child in this case? Is digoxin indicated for the child?
7. Possible outcomes.
Answers:
(Newborn from a mother with type 1 diabetes)
1. Preliminary diagnosis
Hypertrophic cardiomyopathy of the newborn (diabetic cardiomyopathy).
LV diastolic dysfunction.
2. Justification
🔹 Anamnesis:
🔹 EchoCG :
→ Typical picture of hyperinsulinemic myocardial hypertrophy.
3. Pathogenesis
Maternal hyperglycemia → fetal
hyperinsulinism → anabolic effect of insulin → myocardial hypertrophy (especially interventricular septum).
4. Differential diagnosis
5. Additional examination plan
6. Treatment
The main group of drugs:
β-blockers (propranolol)
Not shown:
Digoxin (may increase obstruction).
7. Forecast
In most cases, this condition is reversible.
Hypertrophy regresses by 6–12 months of age with carbohydrate metabolism compensation.
Case study 10
Boy K., 11 months old, was seen by his local doctor with complaints about delay in physical development (body weight 7.0 kg), the appearance of shortness of breath and Perioral cyanosis during physical or emotional stress.
The patient's medical history indicates that insufficient weight gain has been observed since
the age of two months, and rapid fatigue has been observed during feeding up to until breastfeeding was stopped. He had no history of bronchitis or pneumonia.
Examination revealed cyanotic skin, peripheral cyanosis, "drumsticks" and "watch glass" symptoms. The heart area is not visually changed, the boundaries of relative cardiac dullness: left - along the left middle- clavicular line, right - along the right parasternal line, upper - II intercostal space. Heart sounds are sonorous. Heart rate is 140 beats per minute. Along the left edge a hard systolic murmur is heard in the sternum, the second tone is weakened in second intercostal space on the left. Puerile breathing in the lungs, no wheezing. Respiratory rate – 40/1 minute. The abdomen is soft and painless on palpation. The liver protrudes from under the edges of the costal arch by 1.5 cm, the spleen is not palpable.
Additional data from the study on cito :
Complete blood count: hematocrit – 49% (normal – 31-47%), hemoglobin – 170 g/l, erythrocytes – 5.4*1012/l, color index – 0.91, leukocytes – 6.18*109/l, band neutrophils - 3%, segmented neutrophils - 30%, eosinophils -1%, lymphocytes - 60%, monocytes - 6%, ESR - 2 mm/hour.
General urine analysis: color - light yellow, specific gravity - 1004, protein -
absent, glucose - no, squamous epithelium - a little, leukocytes - 0-1 per field vision, red blood cells – no, casts – no, mucus – no.
Questions:
1. Formulate a preliminary diagnosis.
2. What type of circulatory system is depleted in these heart defects?
3. Develop a plan for additional examination of the patient before hospitalization.
4. What changes are possible on the radiograph?
5. Is it necessary to prescribe cardiac glycosides to this patient before examination ? cardiologist?
Answers:
Case Study 11
A 15-year-old teenager sought medical attention complaining of
headaches, most often after school.
Medical history: These complaints had begun approximately three months earlier, and
he had not sought medical attention. A medical examination at school revealed an increase in Blood pressure up to 150/80 mmHg.
A consultation with a pediatric cardiologist was recommended; the following was revealed during the appointment: increase in blood pressure to 140/80 mm Hg, it is recommended to follow a daily routine, reduce physical and mental exercise, blood pressure monitoring and a return visit after 10 days. For 10 days, parents measured blood pressure in the morning and evening. In the mornings, blood pressure was normal - on average 120/70 mm Hg. In the evenings, it was noted increase in blood pressure to 140-150/80 mm Hg At the second appointment with the local pediatrician, 10 days later, the blood pressure was again 140/80 mm Hg. Hg (the 95th percentile of blood pressure for a given gender, age, and height is 133 mm Hg ). An examination is recommended.
The child's medical history shows that he/she grew and developed appropriately for
his/her age, was vaccinated according to the vaccination schedule, and rarely suffered from acute respiratory viral infections . Over the past year, grew by 15 cm, mood swings and conflicts with peers appeared, increased sweating, became tired from school workload.
Walks little, prefers to play computer games, sleep has been disturbed. Over the course of For the last year he has been smoking 1-2 cigarettes a day. His father has hypertension. 45 years old.
Upon examination. The skin is of normal color, there is pronounced sweating, acne on the face and back, red persistent dermographism, well-developed secondary sexual Signs:
The subcutaneous fat layer is well developed and evenly distributed. Height 178 cm, body weight 63 kg. Lymph nodes are not enlarged. Percussion sound in the lungs is pulmonary, breathing is vesicular, there are no wheezing. Respiratory rate is 18 V. 1 minute. Borders of relative cardiac dullness: right – along the right edge of the sternum, upper - 3rd intercostal space, left - 1 cm inward from the left midclavicular line. Heart sounds are sonorous and rhythmic, heart rate is 90 per minute, no murmurs are heard. Average blood pressure based on 3 measurements is 150/80 mmHg. The abdomen is soft and painless, the liver is at the costal comparison average values of SBP and DBP recorded in a patient at three visits with
an interval of 10-14 days between them, with the 90th and 95th percentiles of BP
corresponding to the patient's gender, age, and height percentile. If three average values of SBP and DBP, determined at three visits with an interval of 10-14 days, meet the criteria for normal blood pressure (<90th percentile), high normal blood pressure (90-94th percentile) or hypertension (>95th percentile), an appropriate diagnosis is established.
3. Clinical, anamnestic and genealogical examination, measurement of blood pressure
in the arms and legs with an assessment by percentile distribution, ECG, examination fundus examination, consultation with a cardiologist.
4. For emergency blood pressure reduction, it is better to use Captopril , call
an ambulance.
5. Non-drug treatment (daily routine, diet, quitting bad habits,
weight control). Treatment begins with the minimum dose and only one
drug - long-acting ACE inhibitors. If
monotherapy is ineffective , combinations of several
drugs may be used. With adequately selected therapy, after 3 months With continuous treatment, it is possible to gradually reduce the dose of the drug up to its complete cancellation with continuation of non-drug treatment if stable normal blood pressure.
Case Study 13
A 12-year-old girl, Dasha N., went to her local pediatrician with complaints about an increase in body temperature to 37.8 C in the evening, pain in the knees and "flying" ankle joint pain, weakness and fatigue,
palpitations, and shortness of breath when climbing stairs to the second floor.
History: The girl has been ill for the past three days, when
the above complaints appeared. Three weeks ago, she complained of a sore throat when swallowing, did not measure temperature, did not seek medical help, Self-treated with topical medications.
Upon examination: condition is moderate. Physical development
is appropriate for age. Body temperature is 37.7 C. Skin is pale. Mucous membranes of the pharynx and The oral cavity is pink and clean. The peripheral joints are visually unchanged. active and passive movements in them are painless and not limited. In the lungs vesicular breathing, no wheezing, respiratory rate - 20 beats per minute. Apical the heart beat is determined in the 5th intercostal space 2 cm outward from the left midline clavicular line. The boundaries of relative cardiac dullness are: the right one is 1.0 cm to the right of the right
sternal border, the upper one is the 3rd rib, the left one is 2 cm outward from the left midclavicular
line. The heart sounds are muffled, the first heart sound is weakened, there is a blowing
systolic murmur at the apex, the rhythm is regular, the heart rate is 84 beats per minute. Blood pressure is 100/60 mmHg. The liver protrudes 1 cm from under the costal 103 CFU/ml.
Electrocardiography: the electrical axis of the heart is not deviated, the rhythm is sinus with Heart rate - 74 beats per minute, first degree atrioventricular block (PQ interval - 0.22 sec), increased bioelectrical activity of the left ventricular myocardium.
Echocardiography: mitral valve: leaflets are thickened with aortic valve: thin leaflets, regurgitation 0; tricuspid valve: thin leaflets, regurgitation +; pulmonary valve: The cusps are thin, regurgitation is 0. The left atrium is not dilated. Ejection fraction: 58%. Presence of pericardial effusion: no.
4. Determine and justify the measures and tactics of non-drug and
drug treatment.
5. Determine and justify the tactics of secondary prevention of ARF (acute
rheumatic fever ) in a patient after discharge from the hospital.
Answers:
1. Acute rheumatic fever (suspected): carditis.
In this case, the indication for emergency hospitalization is the presence
of signs of circulatory failure in a child with clinical
manifestations of carditis.
2. Complete blood count (signs of inflammatory activity); complete urine analysis
(to exclude urinary syndrome); blood biochemistry: CRP,
proteinogram (signs of inflammatory activity); CPK-MB (a marker of cytolysis) cardiomyocytes); additionally AST, ALT – assessment of the liver condition, creatinine, urea - assessment of kidney function).
Serological testing: titer of antibodies to streptolysin "O".
Bacteriological examination of a pharyngeal swab to detect beta-hemolytic group A streptococcus (GAS).
Electrocardiography to clarify the nature of heart rhythm disturbances and conduction.
Echocardiography for the diagnosis of valvular heart disease, assessment of dilation cavities and contractile function of the myocardium, detection of pericarditis.
3. Taking into account the data of additional research, the clarified diagnosis is:
"acute rheumatic fever : carditis ( valvulitis of the mitral valve with
valve dysfunction - regurgitation of the 2nd degree, myocarditis)". H I.
The diagnosis of "acute rheumatic fever" is established on the basis of one
major and at least two minor Kisel-Jones-Nesterov criteria in
combination with confirmation of a recent streptococcal infection group A (positive A-streptococcal culture isolated from the pharynx and
an elevated titer of antistreptococcal antibodies ).
Major criterion - carditis (rheumatic valvulitis of the mitral valve)
is suspected clinically based on auscultation data from the following associated with the first tone of systolic murmur of apical localization (mitral regurgitation ), verified by echocardiography by thickening and full a balanced diet with sufficient amounts of vitamins and microelements, proteins, pro- and prebiotics, limiting table salt (up to 1-1.5 g in
older children); The drinking regime is controlled by diuresis - the volume drunk by the child should be 200-300 ml less than the daily excretion.
Drug treatment for ARF includes etiotropic and
anti-inflammatory therapy. Benzylpenicillin 500,000 4 times a day intramuscularly for 10 days. Then they switch to using prolonged-release penicillins in secondary prophylaxis regimen. For anti-inflammatory purposes, non-steroidal drugs are recommended. anti-inflammatory drugs ( NSAIDs ), given the moderate degree inflammatory activity. The drug of choice is diclofenac sodium, 25 mg 3 times a
day, under the control of inflammatory activity indicators (usually at
least 1 month at the specified dose, then with a gradual reduction in the dose - again in (for two months).
5. The duration of secondary prophylaxis for each patient
is determined individually. As a rule, it should be for patients with cured carditis without heart defect - at least 10 years after the attack or up to 25- summer age (based on the principle of "whatever is longer"). The main drug, used for secondary prevention of ARF - Benzathine benzylpenicillin intramuscularly 2.4 million units (adults and adolescents) once every 3 weeks. It is necessary to monitor the indicators of inflammatory activity and condition hemodynamics and severity of valvular heart disease.
Case Study 14
are visiting a cardiologist -rheumatologist . The mother
complains of her son's rapid fatigue, weakness, and shortness of breath with
minimal physical exertion, palpitations, and pain in the heart area.
The boy was from a third pregnancy, which included an exacerbation of chronic
pyelonephritis at 4-6 weeks. Delivery was at 38 weeks, cesarean section. Body weight 3100 g. length 50 cm. Past illnesses: frequent acute respiratory viral infections , pneumonia at 6 months and 1.5 years. From 6 months onwards, the child’s face turned blue, he became lethargic and restless during feeding. The boy began to gain weight poorly.
At 8 months, he first experienced episodes of noisy, deep breathing, and
turned blue. These episodes subsequently began to recur once or twice a month.
At 2 years of age, the child lost consciousness several times during episodes of shortness of breath and cyanosis
, and developed seizures . Weight 12.5 kg, height 102 cm. Skin is pale bluish. Subcutaneous fat layer is reduced. The oral mucosa is pale cyanotic. The teeth are carious.
The fingers are clubbed, and the nails resemble watch glasses. Heart rate – 102 beats per minute. Heart borders: right 1 cm outward from the right
parasternal lines, the upper one is the upper edge of the 3rd rib, the left one is 1 cm outward from the midclavicular line.
On auscultation, the first heart sound is loud, and a rough systolic murmur is heard in the second. intercostal space on the right, directed to the back. Second sound in the second intercostal space on the left weakened. Blood pressure in the arms is 90/55 mm Hg. Blood pressure in the legs is 100/60 mm Hg. At Percussion of the lungs reveals a box-like sound. Respiratory rate is 26 per minute. There is no edema.
In the general blood test: erythrocytes - 5.7 * 1012 / l; Hb - 158 g / l; leukocytes -
4.11 * 109 / l; eosinophils - 3%; band - 3%; segmented - 48%;
monocytes - 9%; lymphocytes - 37%; ESR - 12 mm / h.
Questions:
1. Suggest the most likely diagnosis.
2. Justify your diagnosis.
3. Make a plan for additional examination of the patient, name the changes, detected by instrumental diagnostic methods.
4. Name the components of the identified congenital heart defect.
5. Determine the physician's tactics for stopping a dyspnea -
cyanotic attack. Name the drugs whose administration is contraindicated.
Answers:
1. Congenital heart defect (with cyanosis, with pulmonary circulatory impoverishment
). Tetralogy of Fallot . Dyspnea-cyanotic attacks.
2. The diagnosis of "congenital heart defect (CHD), tetralogy of Fallot" is established on
the basis of: physical exertion, palpitations and pain in the heart area;
- cyanotic attacks);
symptoms of chronic arterial hypoxemia, hypoxemic crises ( dyspnea-cyanotic attacks), symptoms of hypotrophy);
3. The patient is recommended:
- ECG to detect deviation of the electrical axis to the right, signs of
right ventricular hypertrophy, slowing of intraventricular conduction;
- X-ray of the chest organs to detect depletion of the pulmonary pattern and a heart with a characteristic configuration - in the form of a "wooden shoe";
- ECHO-CG with Doppler to identify the characteristic signs of the defect: large VSD, dextroposition of the aorta, presence of pulmonary stenosis and right ventricular hypertrophy.
4.
A) Subaortic (high membranous) ventricular
septal defect, which creates conditions for equalizing pressure in both ventricles.
B) Obstruction of the right ventricular outlet (pulmonary artery stenosis).
C) Right ventricular myocardial hypertrophy due to obstruction of its
outlet.
D) Dextroposition of the aorta (the aorta is located directly above
the ventricular septal defect).
5.
-Calm the child, loosen any tight clothing.
-Perform inhalation of humidified oxygen through a mask.
- Administer Cordiamine at a dose of 0.02 ml/kg subcutaneously or intramuscularly.
- Administer a "lytic mixture" ( Pipolfen , Aminazine , Analgin (or
Promedol), each drug in a single dose of 0.1 ml/year of the patient's life).
- In case of a severe attack, ensure access to a vein and, if there is no
effect from previous therapy, administer a 0.1% solution of Anaprilin at a dose of 0.1 mg/kg. 10 ml of 20% glucose solution intravenously slowly.
- In a severe attack - 4% sodium bicarbonate solution at a dose of 4-5 ml/kg
intravenously slowly over 5 minutes. Cardiac glycosides and diuretics are contraindicated .
Case Study 15
A mother and her three-month-old son presented to the doctor
with complaints of shortness of breath and poor weight gain.
The mother's medical history revealed that the child was from her first pregnancy; at five weeks
of pregnancy, the mother had contracted a respiratory infection . The baby was born full-term, weighing 3,000 g and
measuring 50 cm. He began crying immediately. He was breastfed in the delivery room and sucked weakly.
Breastfeeding is ongoing. Weight gain is 400–500 g per month . The baby also had bronchitis at two months. The child's general condition is severe. The child is lethargic and malnourished. The skin
is pale and clear. Cyanosis of the nasolabial triangle is noted during crying and feeding
. The ears are abnormally shaped, the palate is "gothic", and there are other stigmata Dysembriogenesis . Respiratory rate is 56 beats per minute at rest. Percussion sound over the lungs is
boxed. Breathing is harsh, with isolated
fine rales heard in the lower lungs. The apical impulse
is palpable in the 4th–5th intercostal space on the left.
Borders of relative cardiac dullness: right – 1 cm lateral to
the sternal edge, upper - second intercostal space, left - 1.5 cm outward from the left
midclavicular lines. Heart rate is 152 beats per minute at rest. Heart sounds are loud, rhythmic, during at all auscultation points a systolic murmur is heard, conducted in interscapular space. Splitting of the second sound over the pulmonary artery (PA).
The abdomen is soft,
painless, the liver is +3.5 cm. Swelling of the shins and ankles. Pulsation in
the femoral arteries is not determined. Blood pressure on the left arm is 150/80 mmHg, on the left leg - 50/30 mmHg.
Questions:
1. Suggest the most likely diagnosis.
2. Justify your diagnosis.
3. Make a plan for additional examination of the patient, name the changes, revealed by instrumental diagnostic methods.
4. Name the technique for measuring and the method for assessing blood pressure in a 1-year-old child.
5. Justify the accelerated procedure for referring a child for surgical treatment.
Answers:
1. Congenital heart defect. Coarctation of the aorta. HF (CHD) stage
IIb . 2. The diagnosis of "congenital heart defect (CHD), coarctation of the aorta" was established
based on complaints of shortness of breath, insufficient weight gain since birth; history of the disease: mother during pregnancy, at 5 weeks – period cardioembryogenesis , suffered from acute respiratory viral infection.
Clinical examination data:
- multiple stigmas of dysembryogenesis ;
- signs of hypotrophy;
- symptoms of left ventricular and right ventricular heart failure II b st; the presence of systolic murmur, conducted beyond the heart and cleavage II tones over the pulmonary artery;
- absence of pulsation in the femoral artery, increased blood pressure in the upper
extremities, decreased blood pressure in the lower extremities.
3. The patient is recommended:
— ECG (may be: deviation of the electrical axis of the heart to the right, signs
of increased load on the right parts of the heart, signs of right
ventricular hypertrophy);
— chest X-ray (picture of moderate venous congestion in lungs, enlarged heart, "aortic" or ovoid heart shape;
- ECHO-CG with Doppler ( narrowing is visualized at the site of coarctation of the aorta) lumen, there may be hypertrophy and dilation of the ventricles).
4. To measure blood pressure in a 1-year-old child, a mechanical tonometer is used. (sphygmomanometer). When measuring blood pressure in children, the device is positioned so that the zero division of the manometer was at the level of the artery being measured, and measurable the artery in turn should be at the level of the heart, cuff impose on shoulder, so that the elbow bend remains free, 2 cm above the elbow bend; using a rubber balloon, pump air until the pulse in the artery disappears; then gradually releasing air from the cuff, note the level on the scale in the moment the pulse appears (maximum - systolic pressure); at the moment the disappearance of the pulse, the result is minimal (diastolic) pressure. Up to 1 year, the maximum blood pressure should be: 70 + n (where n is the number of months) child's life). BP min = from 1/2 to 2/3 BP max .
5. The presence of heart failure, arterial hypertension,
and malnutrition in the child.
Case Study 16
A 10-year-old female patient was admitted to the hospital with high intermittent fever, mainly in the morning hours; with an allergic line and maculopapular rash in the armpits, on the lateral surfaces of the chest and on the inner surfaces of the thighs, which intensifies with an increase in temperature; arthralgia in all groups of joints and myalgia ; enlargement of the peripheral lymph nodes, liver (by 3 cm) and spleen (by 1.5 cm), dilation of all borders of the heart, tachycardia up to 140 per minute, muffled heart sounds.
Complete blood count: leukocytes 27x10 9 /l (band 9%, segmented 92%), ESR 65 mm/h, hemoglobin 90 g/l, erythrocytes 3.9x10 12 /l, platelets 600x10 9 /l, biochemical blood parameters are normal.
I became acutely ill two weeks ago after suffering from an acute respiratory viral infection. Outpatient treatment with macrolide antibiotics, antihistamines, and NSAIDs was unsuccessful.
Questions:
Answers:
- examination for arthritic infections;
- cultures of biological media for sterility;
- clarification of information about the Mantoux reaction;
- determination of immunological activity;
- bone marrow trepanobiopsy ;
- ultrasound of the chest and abdominal organs;
- CT and/or MRI.
3. If the diagnosis is confirmed, the most justified treatment options will be pulse therapy with methylprednisolone and methotrexate, intravenous immunoglobulin, and symptomatic therapy.
Case Study 17
Patient O., 12, was readmitted to the department for comprehensive therapy. His medical history revealed that the disease began at age 3, when he developed a limp after contracting the flu. Upon examination, it was determined to be due to a knee joint lesion. The joint was spherical, hot to the touch, and had limited range of motion. Subsequently, other joints were involved in the pathological process. The child received nonsteroidal anti-inflammatory drugs (NSAIDs) almost constantly, which resulted in periods of remission lasting up to 10-12 months, but the disease gradually progressed. During periods of exacerbation, the patient complained of morning stiffness.
Upon admission, the patient's condition is severe, with defiguration and swelling of the interphalangeal, wrist, and elbow joints, and limited range of motion in the right hip. There are no rales in the lungs. The cardiac borders are as follows: the right border is along the right edge of the sternum, the upper border is along the third rib, and the left border is 1 cm medial to the left midclavicular line. Heart sounds are rhythmic and resonant; there are no murmurs.
Complete blood count: Hb - 110 g/l. Er - 4.2 x 10 12 /l, Leukocytes - 15.0 x 10 9 /l, p/y - 4%, s - 44%, e - 2%, l - 47%, m - 3%, ESR - 46 mm/hour.
General urine analysis: specific gravity - 1014, protein - 0.06%, leukocytes - 2-3 in the field of view, erythrocytes - absent.
Biochemical blood test: total protein - 83 g/l, albumin -48%, globulins: alpha -10%, beta - 5%, gamma - 26%, seromucoid - 0.8 (normal - up to 0.2), ALT - 32 U /l, AST - 25 U /l, urea -4.5 mmol/l.
X-ray examination reveals epiphyseal osteoporosis and narrowing of the joint space.
Questions:
1. Formulate and justify the diagnosis.
2. What diseases should be differentially diagnosed at the beginning of the process?
3. Clinical symptoms and syndromes characteristic of JRA.
4. Name the symptoms of eye damage in this disease.
5. Diagnostic criteria for JRA.
6. Options for transforming JHA.
7. Principles of pulse therapy with glucocorticoids.
8. Immunosuppressive therapy.
9. Use of genetically engineered drugs for the treatment of JRA.
10. Observation of patients with JHA in outpatient settings.
Answers:
JRA, predominantly articular form, activity grade III, slowly progressive course, seropositive variant (?), radiographic stage of the process grade II-III, functional insufficiency grade II.
B) traumatic arthritis
B) arthritis in coagulopathy
D) arthritis in metabolic diseases (obesity, gout, etc.)
D) differential diagnosis between other STDs.
3. 1) Joint syndrome
- monoarthritis
- oligoarthritic variant
- polyarthritic variant
The first symptom is a disruption of joint function, followed by a disruption of their configuration.
- serositis – involvement of internal organs in the pathological process (glomerulonephritis, interstitial pneumonia, myocarditis). General symptoms are always present: fever, polyadenia , hepatosplenomegaly .
There are 2 forms with generalized damage to internal organs (Stilk syndrome, subsepsis Wiesler -Fanconi).
4. Eye damage – iridocyclitis; occurs almost exclusively in mono- and oligoarthritis . Initial complaints include decreased visual acuity and "sand in the eyes."
A. Clinical signs:
1. Arthritis lasting 3 months or more.
2. Arthritis of the second joint, which occurs 3 months or more after the first joint is affected.
3. Symmetrical damage to small joints.
4. Effusion into the joint cavity.
5. Joint contracture.
6. Tenosynovitis or bursitis.
7. Muscular atrophy (usually regional).
8. Morning stiffness.
B. Radiographic signs:
1. Osteoporosis.
2. Narrowing of joint spaces.
3. Bone growth disorders.
6. Juvenile rheumatoid arthritis 10% (girls over 10 years old, adult type of progression, polyarthritis, RF + , HLA-DR4)
JUHA (Juvenile ankylosing spondylitis 10% duration -
more than 3 months - (boys over 10 years old, asymmetrical lesion
lower extremities, RF - , HLA-B27)
- Juvenile chronic arthritis 70%
- Arthritis associated with bowel disease 5% (RF - , HLA-B27)
- Psoriatic arthritis 5% (mainly girls, RF - , HLA-B27 and B17)
RF - rheumatoid factor, HLA - histocompatibility antigens, ANA - antinuclear antibodies, CIC - circulating immune complexes
7. Pulse therapy with methylprednisolone at a dose of 10-30 mg/kg body weight per administration for 3 consecutive days.
8. Methotrexate at a dose of 25 mg/m2 of body surface area once a week intramuscularly for 3 months.
9. Tocilizumab at a dose of 8-12 mg/kg of body weight intravenously once every 2-4 weeks in combination with methotrexate. If tocilizumab, pulse methotrexate therapy, and its combination with cyclosporine are ineffective, rituximab at a dose of 375 mg/m2 of body surface area intravenously once a week for 4 consecutive weeks in combination with methotrexate or cyclosporine.
10. The main principle of "D" monitoring is the consistent, long-term use of the selected treatment regimen. If an intercurrent infection develops, antibiotics are mandatory; if a fever persists and does not subside, hospitalization is necessary. If the disease is stable, planned hospitalization is once every 6 months.
Case Study 18
A 4-year-old boy has had a high fever for 2 weeks. His parents report extreme irritability, moodiness, and sleep and appetite disturbances. He is increasingly restless and complains of pain in the left side of his chest. The local pediatrician notes a non-vesicular polymorphic rash on his torso, a pronounced rash on his extremities, and severe hyperemia of the pharynx. He also has hyperemia, dryness, and cracks in his lips. He has a red, strawberry-colored tongue without ulcers. The child has enlarged cervical lymph nodes up to 1.5 cm, swollen hands, hyperemia of the palms, and moderate pain in the hand joints.
Blood tests reveal moderate anemia, leukocytosis up to 20,000, neutrophilia, thrombocytosis up to 350,000, and ESR 55 mm/hour. An X-ray shows no changes in the heart shadow. An ECG shows focal changes, including ischemia and coronary artery disease .
During the echocardiography, coronary artery disease was suspected.
Questions:
1. What is your suspected diagnosis? 2. Treatment principles. 3. Prognosis. Answers: 1.
Systemic vasculitis. Kawasaki disease. Mucocutaneous lymphonodular syndrome. Acute coronary artery disease .
2. Pulse therapy with methylprednisolone (30 mg/kg/ day ) for three days followed by enteral administration of glucocorticosteroids.
IVIG up to 2000 mg/kg/ day for 5 days.
Anti-inflammatory drugs. 3. The prognosis is favorable. There is a risk of coronary artery rupture according to the coronary syndrome.
Case Study 19
A 12-year-old girl was admitted to the department complaining of prolonged low-grade fever, polyarthralgia , and weight loss. The onset of the illness is associated with a previous acute respiratory viral infection, after which she vacationed in Crimea this summer. Her medical history is unremarkable. Her condition is moderate. The skin is pale, with pale, butterfly-shaped erythema on the cheeks and bridge of the nose. There is slight swelling in the ankle and wrist areas. Enlarged axillary and cubital lymph nodes are palpable. Heart sounds are moderately muffled. No other pathologies are detected.
Questions:
1. Your presumptive diagnosis. 2. Examination plan.
Answer:
1. Diagnosis: Systemic lupus erythematosus.
2. Examination plan: CBC, BAC ( proteinogram , seromucoid , AST, ALT, Veltman test, potassium, sodium), blood test for lupus cells, for antibodies to native DNA, for circulating immune complexes, ANA, general urine analysis, ECG, consultation with an ophthalmologist (fundus, ocular media), X-ray of the ankle and wrist joints, ultrasound of the liver and spleen.
Case Study 20
An 8-year-old boy suffered from an intestinal infection of unknown etiology three weeks ago and was treated at home. The parents and child consulted a pediatrician complaining of pain and swelling in the left knee and right ankle joints. On examination, the joints were enlarged due to exudative material, hot to the touch, and painful with limited movement. Enthesopathies were detected along the left iliac spine and in the thoracic spine. The Thomayer test was 35 cm, with thoracic spine mobility of 2 cm. The child had difficulty walking on his heels. A routine blood test revealed an ESR of 30 mm/h and a leukocytosis of 15.7 x 10 9 /L without a neutrophilic shift.
Questions:
Answers:
- debut of juvenile spondyloarthritis;
- the debut of juvenile rheumatoid arthritis in the articular form, oligoarticular variant type 2;
- arthritis against the background of intestinal disease.
3. To confirm the diagnosis of reactive arthritis, a serological blood test for the intestinal group is necessary. The following are recommended as additional methods to rule out the above-mentioned diagnoses:
- X-ray examination of the iliosacral joints and affected joints;
- immunogenetic examination;
- in-depth examination for arthritic infections;
- clarification of humoral and immunological activity;
- rectoscopy and/or colonoscopy (as indicated);
- ophthalmologist consultation.
4. After the child is discharged from the hospital, the outpatient physician is obliged to:
- register the child with a dispensary;
- strictly follow the recommendations for discharge from a specialized hospital;
- if necessary, refer the patient to a medical expert commission to register a disability;
- in the event of disability registration, provide the patient with free medications included in the list of mandatory drugs for the treatment of this pathology;
- carry out rehabilitation activities in a clinic setting;
- if the disease worsens, send the child for inpatient treatment.
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