Czech Paediatrics Board Examination key terms

A 0–10 assessment recorded at 1 and 5 minutes after birth, scoring heart rate, respiratory effort, muscle tone, reflex irritability and skin colour. It summarises neonatal adaptation and guides resuscitation, but does not by itself diagnose asphyxia or predict later outcome.

A clinical syndrome of disturbed neurological function in the term or near-term newborn after a documented peripartum hypoxic-ischaemic event, staged by severity of consciousness, tone, reflexes, feeding and seizures. Staging determines eligibility for cooling and prognosis.

Controlled reduction of core temperature to about 33.5 °C for 72 hours, started within six hours of birth in term infants with moderate or severe hypoxic-ischaemic encephalopathy. It reduces death and disability but requires careful monitoring of heart rate, coagulation and glucose.

Neonatal respiratory failure caused by surfactant deficiency, typically in preterm infants, with tachypnoea, grunting, retractions and hypoxia worsening over the first hours. Chest radiograph shows low volume and reticulogranular opacities; treatment is early surfactant plus non-invasive or invasive respiratory support.

Chronic lung disease of prematurity defined by persistent oxygen or respiratory support requirement at 36 weeks postmenstrual age. It results from arrested alveolar and vascular development combined with injury from ventilation, oxygen and inflammation, and predisposes to later airway disease.

Delivery of a constant distending pressure through nasal prongs or mask to keep the airways and alveoli open during spontaneous breathing. It is first-line support for preterm infants with respiratory distress and reduces the need for intubation.

Population-wide testing of dried blood spots in the first days of life for treatable congenital disorders, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, phenylketonuria and other inherited metabolic diseases. Positive results require prompt confirmatory testing.

The position of a child's measurement relative to a reference population of the same age and sex, expressed as the percentage of peers below that value. Serial measurements plotted over time reveal crossing of centiles, which matters more than any single point.

Inadequate physical growth in infancy or childhood, shown by weight or length falling across centile lines or remaining far below the expected range. Causes include inadequate intake, malabsorption, chronic disease and psychosocial deprivation, and assessment must cover all three domains.

Skeletal maturity estimated from a hand and wrist radiograph and compared with chronological age. Advanced bone age suggests precocious puberty or congenital adrenal hyperplasia; delayed bone age suggests constitutional delay, growth hormone deficiency or hypothyroidism.

Thyroid hormone deficiency present at birth, usually from thyroid dysgenesis or dyshormonogenesis. Early detection by newborn screening and immediate levothyroxine replacement prevent irreversible intellectual disability; delayed treatment causes permanent cognitive impairment.

Autosomal recessive deficiency of phenylalanine hydroxylase causing phenylalanine accumulation and, if untreated, severe intellectual disability, seizures and eczema. Detected by newborn screening and managed with a phenylalanine-restricted diet, with sapropterin used in responsive patients.

An inherited enzyme or transport defect producing accumulation of toxic metabolites or deficiency of essential products. Presentation in the neonate is often non-specific: poor feeding, vomiting, lethargy, seizures or metabolic acidosis with hyperammonaemia, requiring urgent investigation.

Elevated plasma ammonia, a paediatric emergency causing vomiting, lethargy, tachypnoea, encephalopathy and cerebral oedema. Urea cycle defects and organic acidaemias are key causes; treatment means stopping protein intake, giving calories and ammonia-scavenging drugs, and urgent dialysis in crisis.

Absolute or relative insulin deficiency with hyperglycaemia, ketonaemia and metabolic acidosis, sometimes the first presentation of type 1 diabetes. In children it carries risk of cerebral oedema, so fluids and insulin are given cautiously with frequent neurological and biochemical monitoring.

Autoimmune destruction of pancreatic beta cells causing lifelong insulin dependence, the commonest form of diabetes in childhood. Management combines basal-bolus or pump insulin, carbohydrate counting, glucose monitoring and education of the whole family.

Most often 21-hydroxylase deficiency, causing cortisol and aldosterone deficiency with androgen excess. Neonates may present with salt-wasting adrenal crisis; girls show virilised genitalia. Treatment is glucocorticoid and mineralocorticoid replacement with stress-dose adjustment.

Early activation of the hypothalamic-pituitary-gonadal axis, producing progressive breast or testicular development before the age of 8 in girls or 9 in boys. Gonadotrophin-releasing hormone analogue therapy halts progression and preserves adult height.

Immune-mediated enteropathy triggered by dietary gluten in genetically predisposed children, producing villous atrophy and malabsorption. Diagnosis rests on positive tissue transglutaminase IgA antibodies with total IgA and, in selected cases, confirmatory biopsy; treatment is a lifelong gluten-free diet.

Chronic relapsing intestinal inflammation, comprising Crohn disease and ulcerative colitis, presenting in children with abdominal pain, diarrhoea, blood loss, weight loss and delayed growth. Diagnosis requires endoscopy with histology; treatment uses exclusive enteral nutrition, immunomodulators and biologics.

Progressive obliteration of the extrahepatic bile ducts in infancy causing cholestatic jaundice, pale stools and dark urine. Kasai portoenterostomy performed early can restore bile flow; delay leads to cirrhosis, and many children eventually need liver transplantation.

Conjugated hyperbilirubinaemia in the first months of life, defined by raised direct bilirubin, with jaundice, pale stools and hepatomegaly. It is never physiological and demands urgent investigation to exclude biliary atresia, metabolic disease and infection within days.

Retrograde flow of urine from bladder to ureter and sometimes kidney, graded I to V on micturating cystourethrography. High-grade reflux with urinary tract infection predisposes to renal scarring; management ranges from surveillance and antibiotic prophylaxis to surgical reimplantation.

Bacterial infection of the urinary tract, diagnosed by culture of an adequately obtained specimen with pyuria. In infants it may present only with fever, and imaging is needed to detect obstruction, reflux or scarring, especially after febrile infections.

Dilatation of the renal pelvis and calyces, often detected antenatally by ultrasound. Most cases are transient or due to pelviureteric junction obstruction; postnatal assessment grades severity and distinguishes those needing surgery from those managed by observation.

A glomerular disorder with heavy proteinuria, hypoalbuminaemia, oedema and hyperlipidaemia. Most childhood cases are steroid-sensitive minimal change disease; treatment is oral prednisone, with vigilance for infection, hypovolaemia and thrombosis as complications.

Immune-mediated glomerular inflammation, typically post-streptococcal, presenting with haematuria, hypertension, oedema and reduced urine output. Management is supportive with fluid and salt restriction and antihypertensives; prognosis is usually excellent in children.

The triad of microangiopathic haemolytic anaemia, thrombocytopenia and acute kidney injury, most often caused by Shiga toxin-producing Escherichia coli. Supportive care with careful fluid and electrolyte management is central; antibiotics and antimotility drugs may worsen the disease.

A seizure associated with fever in a child aged 6 months to 5 years without intracranial infection or prior unprovoked seizures. Simple febrile seizures are generalised and brief with good prognosis; complex features include focality, duration over 15 minutes or recurrence within 24 hours.

Continuous seizure activity or repeated seizures without recovery lasting five minutes or more, requiring immediate benzodiazepine therapy and airway support. Prolonged seizures risk hypoxia, hyperthermia and neuronal injury, so a structured emergency protocol is essential.

Inflammation of the meninges, usually bacterial or viral, presenting with fever, headache, neck stiffness, photophobia and altered consciousness; infants may show only irritability and poor feeding. Bacterial meningitis requires immediate intravenous antibiotics and, where indicated, dexamethasone.

Life-threatening organ dysfunction caused by a dysregulated host response to infection. In children, recognition relies on fever or hypothermia with tachycardia, tachypnoea and perfusion abnormalities; treatment is prompt antibiotics, fluid resuscitation and early intensive care involvement.

Sepsis with circulatory failure requiring fluid resuscitation and vasoactive support, shown by hypotension, prolonged capillary refill, mottling or reduced consciousness. Early recognition and antibiotics within the first hour substantially improve survival.

Pulse oximetry measurement in the first days of life to detect duct-dependent cardiac lesions before circulatory collapse. Low pre- or post-ductal saturations prompt echocardiography; the test detects many but not all critical defects.

Cardiac anatomy in which pulmonary or systemic blood flow depends on a patent ductus arteriosus. Closure after birth causes rapid deterioration, and survival depends on maintaining duct patency with prostaglandin infusion until surgery or catheter intervention.

Ultrasound imaging of cardiac structure and function, the primary diagnostic tool for congenital and acquired heart disease in children. It defines anatomy, shunts, valve function and ventricular performance, and guides catheter and surgical decisions.

An acute medium-vessel vasculitis of young children with fever lasting five days plus conjunctivitis, mucositis, rash, extremity changes and cervical lymphadenopathy. Coronary artery aneurysms are the main complication; early intravenous immunoglobulin and aspirin reduce this risk.

Pooled human immunoglobulin given intravenously for replacement in antibody deficiency or as immunomodulation in immune-mediated disease. It is used in Kawasaki disease, immune thrombocytopenia and Guillain-Barré syndrome, and requires monitoring for infusion reactions.

An inherited defect of innate or adaptive immunity presenting with recurrent severe infections, failure to thrive, unusual organisms or autoimmunity. Diagnosis uses immunoglobulin levels, lymphocyte subsets and functional tests; treatment includes immunoglobulin replacement and curative transplantation.

A severe, rapidly evolving systemic hypersensitivity reaction with airway, breathing or circulatory compromise, often with skin and gastrointestinal features. Intramuscular adrenaline is the first-line treatment and must not be delayed; observation follows because biphasic reactions can occur.

Repeated administration of an allergen to induce tolerance, used in selected children with severe allergic rhinitis or venom allergy. It reduces symptoms and medication needs but carries a risk of systemic reactions, so it is given under specialist supervision.

The commonest childhood anaemia, caused by insufficient iron intake, increased demands or blood loss, producing microcytic hypochromic red cells and low ferritin. Treatment is oral iron with dietary advice; response confirms the diagnosis and underlying causes must be sought.

Inherited disorders of globin chain synthesis causing microcytic anaemia with normal or raised ferritin. Major forms need regular transfusion and iron chelation; distinguishing them from iron deficiency prevents inappropriate iron loading.

Autoimmune destruction of platelets causing isolated thrombocytopenia with bruising or petechiae in an otherwise well child. Most cases remit spontaneously; treatment with corticosteroids or immunoglobulin is reserved for significant bleeding.

The commonest childhood malignancy, arising from lymphoid progenitor cells and presenting with pallor, fatigue, bruising, bone pain or lymphadenopathy. Diagnosis uses blood count, bone marrow aspirate and immunophenotyping; treatment is risk-stratified chemotherapy, sometimes with transplantation.

Metabolic emergency after rapid lysis of malignant cells, with hyperkalaemia, hyperphosphataemia, hyperuricaemia and hypocalcaemia leading to acute kidney injury and arrhythmia. Prevention with hydration and allopurinol or rasburicase is central in high-risk leukaemia and lymphoma.

Fever in a child with severe chemotherapy-induced neutropenia, a medical emergency because bacterial sepsis can progress within hours. Blood cultures are taken and broad-spectrum intravenous antibiotics started immediately, without waiting for results.

Chronic arthritis of unknown cause beginning before age 16 and lasting at least six weeks, classified by number of joints and systemic features. Uveitis is a silent complication requiring ophthalmological screening; treatment uses non-steroidal drugs, methotrexate and biologics.

Systematic surveillance of motor, language, cognitive and social milestones at scheduled preventive visits, using standardised tools and parental concerns. Early identification allows referral for intervention during periods of greatest brain plasticity.

A permanent disorder of movement and posture caused by a non-progressive lesion of the developing brain, often with epilepsy, sensory deficits and feeding difficulties. Classification by motor type and distribution guides therapy, orthopaedic management and family support.

Telescoping of proximal bowel into distal bowel, usually ileocolic, in infants aged 3 months to 3 years, causing intermittent colicky pain, vomiting and redcurrant-jelly stool. Ultrasound confirms; air or contrast enema reduces most cases, with surgery for failure or perforation.

Acute inflammation of the appendix, presenting with migrating periumbilical pain, anorexia, vomiting and right lower quadrant tenderness. Atypical presentations are common in young children; delayed diagnosis risks perforation and peritonitis.

Physical, emotional or sexual abuse or neglect of a child by a caregiver. Clinicians must recognise inconsistent histories and injury patterns, document findings carefully, and report concerns to child protection authorities under mandatory reporting duties.

Agreement to examination or treatment given voluntarily by a person with capacity after receiving adequate information about purpose, risks, alternatives and consequences. For minors, consent is given by a legal guardian, with the child's own view sought according to age and maturity.

A statutory duty of health professionals to notify authorities about suspected child abuse, neglect or other specified harms, even without proof and sometimes against the family's wishes. It overrides confidentiality and protects the reporter acting in good faith.