Практикум по педиатрии. Practicum in Pediatrics. Учебное пособие для студентов 5-го курса

Screening for infection: markers of viral hepatitis B, C, antibodies to Toxoplasma, HIV, RW, CMV, EBV, HSV1, 2 – negative.

Galactosemia within normal limits.

Deficiency of α-1-antitrypsin – gene α-1-antitryp- sin frequent mutations not detected.

Ultrasonography of the abdomen: moderate increase in the size of the liver, gall bladder was determined in a typical place, spleen, pancreas, kidneys is normal.

ECHO: ECHO signs of stenosis of the left branch of the pulmonary artery.

X-ray of the spine: deformation of the vertebral bodies.

Questions:

1.What is the cause of cholestasis?

2.Diagnose.

3.Which investigations will confirm your diag-

nosis?

4.Prescribe treatment

5.Which specialists should consult this child?

6.What is the prognosis?

Diagnostic keys

1. Physiological jaundice.

2. Hemolytic disease of the newborn due to the conflict by the Rh factor, icteric form, severe.

3. Hemolytic disease of the newborn caused by the incompatibility of the system AB0, icteric form.

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4.Hemolytic disease of the newborn caused by the incompatibility of the Rh factor, icteric form, severe. Complication: the syndrome of accumulation of bile.

5.Hemolytic disease of the newborn caused by the incompatibility of the Rh factor, icteric form, severe course. Toxic-metabolic CNS disease (bilirubin encephalopathy).

6.Severe conjugation jaundice. Prematurity. VLBW.

7.Bilirubin encephalopathy (kernicterus)

8.Duration of jaundice in the newborn being on breastfeeding is associated with breast milk (pregnane jaundice).

9.Congenital hypothyroidism. Conjugation jaun-

dice.

10.Galactosemia. Conjugation jaundice.

11.Diagnosed with biliary atresia? Fetal hepatitis, cirrhosis of the liver? Intrauterine growth retardation type II degree.

12.Alagille syndrome – a congenital hypoplasia of the intrahepatic ducts.

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phosphatase 770 U/l (150), total bilirubin 150 umol/l (117-68), direct bilirubin 85 umol/l (4,3-12,8), glucose 4.1 mmol/l (1,7-4,7), urea 4.0 mmol/l (2.5-4.5), creatinine 70 mmol/l (35-110), potassium 5.0 mmol/l (4.5-6,5), Na 137 mmol/l (135-155), Ca ionized. 1.01 mmol/l (0,93-1,17), Mg 1,2 mmol/l (1.01-1,8).

Questions:

1.Presumptive diagnosis?

2.Name CMV transmission ways from mother to child, which way was is the most probable in this example?

3.Which outcomes are possible in utero fetal CMV infection?

4.What are the main symptoms of congenital CMV infection? Differential diagnosis.

6.Which additional investigation should be carried out? What is the definition of the diagnostic value of IgM, IgG, avidity?

7.Assign treatment

Case 2

A girl, 4 days old, was born from a 27-year-old mother. First pregnancy, with toxicosis in the first half and periodic fever in III trimester. She was not examined or treated. Spontaneous birth at 36 week, there was premature discharge of amniotic fluid, dry period – 8 hours, amniotic fluid with a greenish shade. Weight 2,340 g, length 46 cm, head circum-

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ference 32 cm, Apgar 5/7 points. On the fourth day after birth the child had clonic-tonic seizures.

On examination: condition is severe. Weight 2120, feeding through tube, often spits up. The skin is clean, with yellow shade. Puerile breathing, no wheezing, RR 44 per min. Heart tones are muffled, rhythmic, HR 140 per min. Abdomen is soft, painless, liver +3 cm, spleen +1 cm, hydrocephalic head shape, head circumference 34 cm, open seams, bulging of fontanelle 4x4 cm, "executed". Expressed horizontal nystagmus. Tonic tension of the extensor of arms. Decreased muscle tone. Reflexes are depressed.

Investigation of cerebrospinal fluid at the fourth day: transparency – cloudy, protein – 1.66 g/l, cell count – 320 in 3 ml, neutrophils – 15%, lymphocytes – 85%.

Serum for antibodies of herpes 1 and type 2: IgG – positive 1:240, IgM – negative., CMV – IgG – negative., IgM – negative., Toxoplasma child – IgG – pos. 1:320, IgM – positive 1:1280.

NSG at the forth day: The lateral ventricles are enlarged, the left anterior horn depth – 12 mm, right – 14 mm, the outlines of their underlined.Ventricle 3- 5 mm. In the periventricular areas visualized single inclusions of diameter less than 1 mm of bone density. The subarachnoid space is extended to 5 mm. Interhemispheric gap is 4 mm.

Questions:

1. Presumptive diagnosis; justify the diagnosis.

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2.Name the transmission ways of Toxoplasma from mother to child. What are the most likely sources of infection of pregnant women?

3.Which outcomes are possible when toxoplasmosis intrauterine infection of the fetus occurred?

4.What are the main symptoms of congenital toxoplasmosis?

5.Which methods can confirm the diagnosis?

6.Assign treatment.

Case 3

Child at the age 2 days, was born from a 25- year-old mother, second pregnancy (I pregnancy – term delivery, child 5 years old, healthy), with acute respiratory infection at the 10-th week of gestation, in II-III trimesters with the threat of termination of pregnancy. Birth at 34 weeks, spontaneous. Birth weight 2,100 g, length 45 cm, head circumference 29 cm, chest – 30 cm. Apgar score 4/7 points.

On examination: the child in serious condition, reduced muscle tone, newborn reflexes quickly exhausted. Multiple stigma of disembryogenesis, microphthalmia. Pale skin, acrocyanosis. Auscultation, no wheezing. RR 46 per min. Heart borders percussion on the right – 1 cm lateral to the right edge of the sternum, on the left – 2 cm laterally from the mid-clavicular line. Cardiac tones are rhythmic, HR 168 per min, systolic murmur along the left sternal border. Liver +3 cm, spleen +1 cm. Stool – meconium. Urinates normally.

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Complete blood count: Hb – 180 g/l, RBC – 4.7x1012/l, color index – 0.9, Pl – 240x109/l, leukocytes – 8х109/l, stab – 3%, segment – 57%, E – 1%, lymph – 25%, monocytes – 12%, ESR – 4 mm/h.

Questions:

1.Presumptive diagnosis; justify.

2.Define Gregg’s triad.

3.Which changes of the internal organs are pos-

sible?

4.Which investigation should be conducted?

5.The value of otoacoustic emissions in diagnosis of loss of hearing in newborns

6.Assign treatment.

7.Prevention of disease

Case 4

Child at he the age of 2 days was in the maternity hospital. Anamnesis: mother 29 years old, two years ago had been ill with syphilis, treated. Pregnancy II (I pregnancy ended in abortion). In I trimester threat of interruption and toxicosis, serologic test for syphilis in the I trimester – negative, re-test was not carried out, in II-III trimester – anemia, threat of interruption continuing and preeclampsia. Birth at 39 weeks, amniotic fluid was cloudy with an unpleasant smell. Birth weight – 2,530 g, length – 49 cm, Apgar 6/7 points. Cleaning of the upper respiratory tract and inhalation of humidified oxygen through a mask were carried out.

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On examination: does not open his eyes, muscle tone is reduced, newborn reflexes quickly exhausted. Thin, does not keep warmth. Pale, dry skin with acrocyanosis. There are lingering bubbles infiltrated, diameter of 1 cm on the skin of the trunk, soles and palms. Palpated multiple cervical, inguinal lymph nodes, tight consistency, and their diameter about 2 cm. RR 60 per min. Nasal breathing is difficult, mucous discharge from the nose. HR 140 per min. Abdomen soft, palpable: liver +3.5 cm, spleen +1 cm, tight elastic consistency.

Investigation of maternal blood: RAC (Wasserman) positive (+ + + +).

Questions:

1.Presumptive diagnosis?

2.Infection transmission ways to the fetus

3.Which are the main clinical signs of early and late congenital syphilis?

4.When late congenital syphilis can be develo-

ped?

5.Which investigation should be conducted?

6.Assign treatment. How to monitor the effectiveness of treatment?

Case 5

Child at the age 4 days in the department of pathology of newborns was born in term from a 22- year-old woman with pathological gynecological anamnesis (erosion of the cervix). Amniotic fluid was

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light. Apgar score – 7/8 points. Birth weight 2,900 g, length – 49 cm, head circumference – 35 cm, chest circumference – 32 cm. On the first days of life was observed tremor of the hands, discrepancy of sagittal suture by 0.2 cm, large fontanell 3x3 cm, small 0.5x0.5 cm. At the end of the second day of life icterus of skin appeared with a tendency to increase.

On the 2nd day of life 3 single vesicular elements with transparent content appeared on the trunk. The child's condition became progressively deteriorated to severe, hypersthesia, exasperated cry, clonictonic convulsions, observed rise in temperature to 39,2°C.

In general blood test: Hb – 165 g/l., RWB – 4.6x1012/l, Plt – 200x109/l, WBC – 10.0x109/l, stab – 4%, segment – 17%, lymphocytes – 64%, monocytes – 15%, ESR – 2 mm/hr.

Biochemical analysis of blood: total protein – 60.0 g/l, total bilirubin – 340 mmol/l, indirect bilirubin – 310 mmol/l, urea – 4.5 mmol/l, potassium – 5.1 mmol/l, sodium – 141 mmol/l.

Spinal puncture: transparency – cloudy, protein – 2.1 g/l, cell counts – 450 in 3 um, neutrophils – 35%, lymphocytes – 55%, monocytes – 10%, glucose – 86% of plasma concentration.

Questions:

1.Presumptive diagnosis; justify.

2.Which investigations can be carried out to confirm the diagnosis?

3.Put differential diagnosis.

4.Assign treatment.

5.How to monitor the effectiveness of treatment?

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Case 6

A child was born from III pregnancy, which occurred with nephropathy in the third trimester and colpitis. The first pregnancy ended with urgent delivery, the second – miscarriage. Premature 36-weeks, the mother’s temperature during childbirth were 38,9°C for several hours, anhydrous period was 14 hours. Birth weight 2,450 g, length 46 cm, Apgar score 4/6 points. The initial loss of body weight was 260 g, weight didn’t increase.

On examination on the third day of life, condition is very severe, physical activity decreased, head moved back with expressed stiff neck. Fontanel 2,5x2,5 cm, tense. Suck reflex was absent. Body temperature 35,9°C. Pale skin with grayish shade, acrocyanosis, perioral cyanosis. Umbilical residue was swollen, purulent discharge from its vessels. Subcutaneous fat layer is poorly developed. Shortness of breath with involving of auxiliary muscles, RR 64 per min. Periodically observed apnea. Auscultation: weak breathing, wheezing. Muffled heart sounds, HR 176 per min. Abdomen is moderately swollen. Liver +3 cm, spleen +1 cm, thick consistency. Undigested stools with mucus. Urinating rare.

Complete blood count: hemoglobin 140 g/l, RBC 4,4x1012/l, CI 0.9, Plt 120.0x109/l, WBC 34.8 h109/l, myelocytes 4%, metamyelocytes 18%, stab 21%, segment 20%, lymph. 18%, monocytes 19%, ESR 30 mm/h.

Investigation of cerebrospinal fluid: transparency – cloudy, protein 9.9 g/l, Pandy's reaction+ + + +, cell

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