Diseases of children (pediatrics)

Bronchopulmonary dysplasia

Bronchopulmonary dysplasia is a chronic lung injury in premature babies caused by oxygen and prolonged mechanical ventilation.

Left heart hypoplasia syndrome

Hypoplastic left heart syndrome consists of hypoplasia of the left ventricle and ascending aorta, underdevelopment of the aortic and mitral valves, atrial septal defect, and a wide patent ductus arteriosus. Unless physiological closure of the ductus arteriosus is prevented by prostaglandin infusion, cardiogenic shock will develop and the child will die. A loud single 2nd heart sound and a nonspecific systolic murmur are often heard.

Hirschsprung's disease (congenital megacolon)

Hirschsprung's disease (congenital megacolon) is a congenital anomaly of the innervation of the lower intestine, usually limited to the colon, resulting in partial or complete functional intestinal obstruction. Symptoms include persistent constipation and abdominal distension. Diagnosis is by barium enema and biopsy. Treatment of Hirschsprung's disease is surgical.

Apnea of prematurity

Apnea of prematurity is defined as respiratory pauses of more than 20 s or interruption of airflow and respiratory pauses of less than 20 s, combined with bradycardia (less than 80 bpm), central cyanosis, or O2 saturation less than 85% in infants born at gestation less than 37 weeks and in the absence of causes that cause apnea. Causes may include CNS (central) immaturity or airway obstruction.

Dehydration in children

Dehydration is a significant loss of water and usually electrolytes. Symptoms and signs include thirst, lethargy, dry mucous membranes, decreased urine output, and, as the degree of dehydration progresses, tachycardia, hypotension, and shock. Diagnosis is based on history and physical examination. Treatment is with oral or intravenous fluid and electrolyte replacement.

Cholestasis of the newborn

Cholestasis is a disorder of bilirubin excretion that results in elevated direct bilirubin levels and jaundice. There are many known causes of cholestasis, which are identified by laboratory testing, liver and biliary tract imaging, and sometimes liver biopsy and surgery. Treatment depends on the cause.

Necrotizing ulcerative enterocolitis.

Necrotizing ulcerative enterocolitis is an acquired disease, primarily in premature and sick newborns, which is characterized by necrosis of the intestinal mucosa or even deeper layers.

Tyrosinemia

Tyrosine is a precursor of some neurotransmitters (e.g., dopamine, norepinephrine, epinephrine), hormones (e.g., thyroxine), and melanin; deficiency of enzymes involved in their metabolism leads to a number of syndromes. Tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumaryl acetoacetate hydroxylase, an enzyme involved in tyrosine metabolism.

Phenylketonuria

Phenylketonuria is a clinical syndrome of mental retardation with cognitive and behavioral impairments caused by elevated blood phenylalanine levels. The primary cause is deficient phenylalanine hydroxylase activity. Diagnosis is based on the finding of high phenylalanine levels and normal or low tyrosine levels.

Incomplete bowel turn

Incomplete intestinal rotation is a condition in which the normal development of the intestine is disrupted during the intrauterine period and it does not occupy its normal place in the abdominal cavity.