Identifying Data: Patient's name; age, sex. List the
patient’s significant medical problems. Name and
relationship to child of informant (eg, patient, parent, legal
guardian).
Chief Complaint: Reason given for seeking medical care
and the duration of the symptom(s).
History of Present Illness (HPI): Describe the course of
the patient's illness, including when it began and the
character of the symptom(s); aggravating or alleviating
factors; pertinent positives and negatives. Past diagnostic
testing.
Past Medical History (PMH): Past diseases, surgeries,
hospitalizations; medical problems; history of asthma.
Birth History: Gestational age at birth, whether preterm,
obstetrical problems.
Developmental History: Motor skills, language
development, self-care skills.
Medications: Include prescription and over-the-counter
drugs, vitamins, herbal products, homeopathic drugs,
natural remedies, nutritional supplements.
Feedings: Diet, volume of formula per day.
Immunizations: Up-to-date?
Drug Allergies: Penicillin, codeine?
Food Allergies:
Family History: Medical problems in family, including the
patient's disorder. Asthma, cancer, tuberculosis, HIV,
diabetes, allergies.
Social History: Family situation, living conditions,
alcohol, smoking, drugs. Level of education.
Review of Systems (ROS): General: Weight loss or weight gain, fever, chills, fatigue, night sweats. Skin: Rashes, skin discolorations. Head: Headaches, dizziness, seizures. Eyes: Visual changes. Ears: Tinnitus, vertigo, hearing loss. Nose: Nose bleeds, nasal discharge. Mouth and Throat: Dental disease, hoarseness, throat pain. Respiratory: Cough, shortness of breath, sputum (color and consistency). Cardiovascular: Dyspnea on exertion, edema, valvular disease. Gastrointestinal: Abdominal pain, vomiting, diarrhea, constipation. Genitourinary: Dysuria, frequency, hematuria. Gynecological: Last menstrual period (frequency, duration), age of menarche; dysmenorrhea, contraception, vaginal bleeding, breast masses. Endocrine: Polyuria, polydipsia. Musculoskeletal: Joint pain or swelling, arthritis, myalgias. Skin and Lymphatics: Easy bruising, lymphadenopathy. Neuropsychiatric: Weakness, seizures. Pain: Quality (sharp/stabbing, aching, pressure), location, duration
Physical Examination
General appearance: Note whether the patient looks “ill,”
well, or malnourished.
Physical Measurements: weight, height; head
circumference if less than 36 months, body mass index
(BMI). Plot on age-appropriate growth charts.
Vital Signs: Temperature, heart rate, respiratory rate,
blood pressure.
Skin: Rashes, scars, moles, skin turgor, capillary refill (in
seconds).
Lymph Nodes: Cervical, axillary, inguinal nodes: size,
tenderness.
Head: Bruising, masses, fontanels.
Eyes: Pupils: equal, round, and reactive to light and
accommodation (PERRLA); extra ocular movements
intact (EOMI). Funduscopy (papilledema, hemorrhages,
exudates).
Ears: Acuity, tympanic membranes (dull, shiny, intact,
infected, bulging).
Mouth and Throat: Mucous membrane color and
moisture; oral lesions, dentition, pharynx, tonsils.
Neck: Thyromegaly, lymphadenopathy, masses.
Chest: Equal expansion, rhonchi, crackles, rubs, breath
sounds.
Heart: Regular rate and rhythm (RRR), first and second
heart sounds (S1, S2); gallops (S3, S4), murmurs (grade
1-6), pulses (graded 0-2+).
Breast: Discharge, masses; axillary masses.
Abdomen: Bowel sounds, bruits, tenderness, masses;
hepatomegaly, splenomegaly; guarding, rebound,
percussion note (tympanic), suprapubic tenderness.
Genitourinary: Inguinal masses, hernias, scrotum,
testicles.
Pelvic Examination: Vaginal mucosa, cervical discharge,
uterine size, masses, adnexal masses, ovaries.
Extremities: Joint swelling, range of motion, edema
(grade 1-4+); cyanosis, clubbing, edema (CCE);
peripheral pulses.
Rectal Examination: Sphincter tone, masses, fissures;
test for occult blood
Neurological: Mental status and affect; gait, strength
(graded 0-5), sensation, deep tendon reflexes (biceps,
triceps, patellar, ankle; graded 0-4+).
Labs: Electrolytes [sodium, potassium, bicarbonate,
chloride, blood urea nitrogen (BUN), creatinine], CBC
(hemoglobin, hematocrit, WBC count, platelets,
differential); X-rays, ECG, urine analysis (UA), liver
function tests (LFTs).
Assessment (Impression): Assign a number to each
problem and discuss separately. Discuss differential
diagnosis and give reasons that support the working
diagnosis; give reasons for excluding other diagnoses.
Plan: Describe therapeutic plan for each numbered
problem, including testing, laboratory studies,
medications.
Rabu, 2009 Februari 11
HYPERBILIRUBINEMIA
DEF: Elevated serum bilirubin.
ETIOL: In the first 3 to 4 postnatal days, healthy term infants can experience a physiologic increase in unconjugated serum bilirubin from cord levels of 1.5 mg/dL or less at birth to a mean value of 6.5 ± 2.5 mg/dL, with means of 7.3 ± 3.9 mg/dL and 5.7 ± 3.3 mg/dL for breast-fed infants and formula-fed infants, respectively. Although most new-borns have hyperbilirubinemia by adult standards, physiologic jaundice is linked to normal development and is usually benign and self-limited. It arises from a developmental delay in the conjugation and excretion of bilirubin; thus, preterm infants can have maximum serum bilirubin levels 30% to 50% higher than term babies, with elevated levels persisting for 6 to 7 days postnatally. Unconjugated or indirect hyperbilirubinemia is also caused by isoimmune hemolytic disease (e.g., ABO, Rh, or minor blood group incompatibilities); structural or metabolic abnormalities of RBCs (e.g., G6PD deficiency, hereditary spherocytosis); hereditary defects in bilirubin conjugation (e.g., Crigler-Najjar syndrome, Gilbert disease); bacterial sepsis; poly-cythemia; hypothyroidism; hemorrhage/hematoma; and breast milk jaundice. Conjugated, or direct, hyperbilirubinemia can be caused by congenital biliary atresia, extrahepatic biliary obstruction, neonatal hepatitis, inspissated bile syndrome, postasphyxia, a1-antitrypsin deficiency, and neonatal hemosiderosis.
CLIN: Jaundice in the first day of life is pathologic and mandates a thorough evaluation. Neonates who are not clinically jaundiced do not require routine bilirubin level determination. Visible cutaneous and scleral jaundice in the newborn is noted when the bilirubin level exceeds 7 to 8 mg/dL. Jaundice progresses from the head downward with increaseing severity of hyperbilirubinemia (i.e., scleral and facial icterus, 6 to 8 mg/dL; shoulder and trunk, 8 to 10 mg/dL; lower body, 10 to 12 mg/dL;generalized, > 12 to 15 mg/dL). When visible jaundice is detected, the rapidity of onset, the presence of blood group incompatibilities between mother and infant, the presence of hematomas or signs of infection, the method of feeding, and the duration and clinical course of jaundice beyond the third day should be noted. Daily inspection of the baby, undressed and in adequate light, is required for monitoring the progression of jaundice. A thorough abdominal examination includes palpation of the liver and spleen to evaluate for hepatosplenomegaly. Clinical manifestations of bilirubin toxicity include opisthotonos, extensor rigidity, tremors, oculomotor paralysis, and hearing loss (i.e., manifestations of basal ganglia and cranial nerve involvement). Fatal cases in the new-born period are characterized by a loss of the suck response and lethargy, followed by hyperirritability, seizures, and death.
STUDIES: A serum bilirubin concentration is obtained when significant visible jaundice is detected on the physical examination. When the indirect bilirubin is ³10 mg/dL and the calculated rate of increase exceeds 0.2 mg/dL/hour, repeat levels should be determined every 12 hours until the levels stabilize or a clear indication for treatment exists. Important studies to review include maternal blood type, infant's blood type, Coombs tests, hematocrit, hemoglobin, reticulocyte count, RBC indices, and RBC smear. Elevation of direct bilirubin (above 1.5 to 2.0 mg/dL) should prompt evaluation for intrinsic liver disease or biliary tract obstruction.
TX: Most cases of neonatal hyperbilirubinemia are developmental, benign, and self-limited, and therefore can be managed with observation, serial bilirubin determinations, and reassurance. For more severe or complicated cases, a specific diagnosis should be sought after initial stabilization of the neonate. Phototherapy can be used to stabilize indirect hyperbilirubinemia resulting from any cause and is generally used to manage hyperbilirubinemia of greater than 15 to 20 mg/dL. When the levels of bilirubin exceed 25 to 30 mg/dL or are rising rapidly in association with hemolysis, exchange transfusion (with phototherapy) is the treatment of choice. Hyperbilirubinemia occurring within the first 3 to 5 days of life in breast-fed infants may be a result of infrequent feedings and/or delayed production of adequate milk (breast-feeding jaundice); continued, frequent feedings usually lead to resolution. Prolonged hyperbilirubinemia in breast-fed infants may be caused by specific factors in breast milk (breast milk jaundice) and resolves with temporary cessation of nursing (24 to 48 hours); serum bilirubin level usually declines promptly (2 to 4 mg/dL), and nursing is subsequently resumed with little or no further increase in bilirubin.
ETIOL: In the first 3 to 4 postnatal days, healthy term infants can experience a physiologic increase in unconjugated serum bilirubin from cord levels of 1.5 mg/dL or less at birth to a mean value of 6.5 ± 2.5 mg/dL, with means of 7.3 ± 3.9 mg/dL and 5.7 ± 3.3 mg/dL for breast-fed infants and formula-fed infants, respectively. Although most new-borns have hyperbilirubinemia by adult standards, physiologic jaundice is linked to normal development and is usually benign and self-limited. It arises from a developmental delay in the conjugation and excretion of bilirubin; thus, preterm infants can have maximum serum bilirubin levels 30% to 50% higher than term babies, with elevated levels persisting for 6 to 7 days postnatally. Unconjugated or indirect hyperbilirubinemia is also caused by isoimmune hemolytic disease (e.g., ABO, Rh, or minor blood group incompatibilities); structural or metabolic abnormalities of RBCs (e.g., G6PD deficiency, hereditary spherocytosis); hereditary defects in bilirubin conjugation (e.g., Crigler-Najjar syndrome, Gilbert disease); bacterial sepsis; poly-cythemia; hypothyroidism; hemorrhage/hematoma; and breast milk jaundice. Conjugated, or direct, hyperbilirubinemia can be caused by congenital biliary atresia, extrahepatic biliary obstruction, neonatal hepatitis, inspissated bile syndrome, postasphyxia, a1-antitrypsin deficiency, and neonatal hemosiderosis.
CLIN: Jaundice in the first day of life is pathologic and mandates a thorough evaluation. Neonates who are not clinically jaundiced do not require routine bilirubin level determination. Visible cutaneous and scleral jaundice in the newborn is noted when the bilirubin level exceeds 7 to 8 mg/dL. Jaundice progresses from the head downward with increaseing severity of hyperbilirubinemia (i.e., scleral and facial icterus, 6 to 8 mg/dL; shoulder and trunk, 8 to 10 mg/dL; lower body, 10 to 12 mg/dL;generalized, > 12 to 15 mg/dL). When visible jaundice is detected, the rapidity of onset, the presence of blood group incompatibilities between mother and infant, the presence of hematomas or signs of infection, the method of feeding, and the duration and clinical course of jaundice beyond the third day should be noted. Daily inspection of the baby, undressed and in adequate light, is required for monitoring the progression of jaundice. A thorough abdominal examination includes palpation of the liver and spleen to evaluate for hepatosplenomegaly. Clinical manifestations of bilirubin toxicity include opisthotonos, extensor rigidity, tremors, oculomotor paralysis, and hearing loss (i.e., manifestations of basal ganglia and cranial nerve involvement). Fatal cases in the new-born period are characterized by a loss of the suck response and lethargy, followed by hyperirritability, seizures, and death.
STUDIES: A serum bilirubin concentration is obtained when significant visible jaundice is detected on the physical examination. When the indirect bilirubin is ³10 mg/dL and the calculated rate of increase exceeds 0.2 mg/dL/hour, repeat levels should be determined every 12 hours until the levels stabilize or a clear indication for treatment exists. Important studies to review include maternal blood type, infant's blood type, Coombs tests, hematocrit, hemoglobin, reticulocyte count, RBC indices, and RBC smear. Elevation of direct bilirubin (above 1.5 to 2.0 mg/dL) should prompt evaluation for intrinsic liver disease or biliary tract obstruction.
TX: Most cases of neonatal hyperbilirubinemia are developmental, benign, and self-limited, and therefore can be managed with observation, serial bilirubin determinations, and reassurance. For more severe or complicated cases, a specific diagnosis should be sought after initial stabilization of the neonate. Phototherapy can be used to stabilize indirect hyperbilirubinemia resulting from any cause and is generally used to manage hyperbilirubinemia of greater than 15 to 20 mg/dL. When the levels of bilirubin exceed 25 to 30 mg/dL or are rising rapidly in association with hemolysis, exchange transfusion (with phototherapy) is the treatment of choice. Hyperbilirubinemia occurring within the first 3 to 5 days of life in breast-fed infants may be a result of infrequent feedings and/or delayed production of adequate milk (breast-feeding jaundice); continued, frequent feedings usually lead to resolution. Prolonged hyperbilirubinemia in breast-fed infants may be caused by specific factors in breast milk (breast milk jaundice) and resolves with temporary cessation of nursing (24 to 48 hours); serum bilirubin level usually declines promptly (2 to 4 mg/dL), and nursing is subsequently resumed with little or no further increase in bilirubin.
HEPATITIS
DEF: Infectious or idiopathic inflammation of the liver.
ETIOL: Neonatal hepatitis can be caused by a variety of infectious agents, including cytomegalovirus (CMV), rubella, reovirus type 3, herpes simplex, herpes zoster, herpesvirus type 6, adenovirus, enteroviruses, parvovirus B19, hepatitis viruses, human immunodeficiency virus, bacterial sepsis (gram-negative rods, staphylococci, streptococci), syphilis, listeriosis, tuberculosis, and toxoplasmosis. Idiopathic neonatal hepatitis describes neonatal cholestatic liver disease for which all other known causes, including metabolic, infectious, and extrahepatic obstruction, have been ruled out. The incidence of idiopathic neonatal hepatitis is 1 in 5,000 births and accounts for 50% of cases of prolonged neonatal jaundice.
CLIN/STUDIES/TX: The history should focus on maternal infection during pregnancy and delivery and family history of pediatric liver disease. The major types of neonatal hepatitis are as follows:
Idiopathic: More common in premature or small-for-gestational-age (SGA) infants. Fifty percent have jaundice in the first week of life. Hepatosplenomegaly is common. One-third of these infants fail to thrive. Acholic stools may or may not be present. Radionuclide hepatobiliary imaging shows slow liver uptake with positive intestinal excretion. Liver histology is variable, with inflammation, hepatocellular unrest, multinucleated giant cells, and extramedullary hematopoiesis. Diagnosis is made through exclusion of other etiologies, including biliary atresia. Therapy is directed at addressing the malabsorptive consequences of cholestasis, which include malnutrition, growth retardation, fat-soluble vitamin deficiencies, and calcium deficiency.
Toxoplasmosis: Sixty percent have hepatomegaly, and 40% have hyperbilirubinemia. Hepatic pathology is nonspecific and includes mononuclear periportal inflammation and canalicular bile stasis. Diagnosis is made serologically or through identification of the parasite in cerebrospinal fluid (CSF) sediment. Antiparasitic therapy (pyrimethamine and sulfadiazine) may arrest disease progression.
Rubella: Sixty-five percent have hepatomegaly, and 15% have jaundice. Clinical presentation and hepatic pathology are nonspecific. Elevated aspartate aminotransferase (AST) and alanine amino transferase (ALT) levels may occur in addition to acholic stools. Progressive hepatic disease, including fibrosis and failure, is uncommon. No specific therapy is indicated.
Cytomegalovirus (CMV): Hepatosplenomegaly, jaundice, and elevated AST and ALT levels may occur. Liver biopsy shows focal areas of hepatocyte necrosis with portal inflammation composed of lymphocytes and neutrophils. Intranuclear viral inclusions are more commonly noted in bile duct epithelia than in hepatocytes. Giant cell transformation, bile stasis, and extramedullary hematopoiesis may be seen. Diagnosis is made through culture of the organism from urine or tissue. Progression to severe chronic liver disease is rare. Severe disease may be treated with ganciclovir.
Herpes Simplex: Jaundice and massive hepatic necrosis with liver failure may occur. Coxsackievirus and echovirus (types 11, 14, and 19) infection may present similarly. Diagnosis is made through viral isolation and serology. Documented infection is treated with adenine arabinoside or acyclovir.
Syphilis: Eighty percent have hepatomegaly, and 40% are jaundiced. Biopsy may show extramedullary hematopoiesis, parenchymal or portal inflammatory infiltrates, and granulomatous lesions. Although spirochetes may be seen, the diagnosis is typically made by serologic studies. Although penicillin is essential for the therapy of infants infected with syphilis, it may exacerbate syphilitic hepatic disease.
ETIOL: Neonatal hepatitis can be caused by a variety of infectious agents, including cytomegalovirus (CMV), rubella, reovirus type 3, herpes simplex, herpes zoster, herpesvirus type 6, adenovirus, enteroviruses, parvovirus B19, hepatitis viruses, human immunodeficiency virus, bacterial sepsis (gram-negative rods, staphylococci, streptococci), syphilis, listeriosis, tuberculosis, and toxoplasmosis. Idiopathic neonatal hepatitis describes neonatal cholestatic liver disease for which all other known causes, including metabolic, infectious, and extrahepatic obstruction, have been ruled out. The incidence of idiopathic neonatal hepatitis is 1 in 5,000 births and accounts for 50% of cases of prolonged neonatal jaundice.
CLIN/STUDIES/TX: The history should focus on maternal infection during pregnancy and delivery and family history of pediatric liver disease. The major types of neonatal hepatitis are as follows:
Idiopathic: More common in premature or small-for-gestational-age (SGA) infants. Fifty percent have jaundice in the first week of life. Hepatosplenomegaly is common. One-third of these infants fail to thrive. Acholic stools may or may not be present. Radionuclide hepatobiliary imaging shows slow liver uptake with positive intestinal excretion. Liver histology is variable, with inflammation, hepatocellular unrest, multinucleated giant cells, and extramedullary hematopoiesis. Diagnosis is made through exclusion of other etiologies, including biliary atresia. Therapy is directed at addressing the malabsorptive consequences of cholestasis, which include malnutrition, growth retardation, fat-soluble vitamin deficiencies, and calcium deficiency.
Toxoplasmosis: Sixty percent have hepatomegaly, and 40% have hyperbilirubinemia. Hepatic pathology is nonspecific and includes mononuclear periportal inflammation and canalicular bile stasis. Diagnosis is made serologically or through identification of the parasite in cerebrospinal fluid (CSF) sediment. Antiparasitic therapy (pyrimethamine and sulfadiazine) may arrest disease progression.
Rubella: Sixty-five percent have hepatomegaly, and 15% have jaundice. Clinical presentation and hepatic pathology are nonspecific. Elevated aspartate aminotransferase (AST) and alanine amino transferase (ALT) levels may occur in addition to acholic stools. Progressive hepatic disease, including fibrosis and failure, is uncommon. No specific therapy is indicated.
Cytomegalovirus (CMV): Hepatosplenomegaly, jaundice, and elevated AST and ALT levels may occur. Liver biopsy shows focal areas of hepatocyte necrosis with portal inflammation composed of lymphocytes and neutrophils. Intranuclear viral inclusions are more commonly noted in bile duct epithelia than in hepatocytes. Giant cell transformation, bile stasis, and extramedullary hematopoiesis may be seen. Diagnosis is made through culture of the organism from urine or tissue. Progression to severe chronic liver disease is rare. Severe disease may be treated with ganciclovir.
Herpes Simplex: Jaundice and massive hepatic necrosis with liver failure may occur. Coxsackievirus and echovirus (types 11, 14, and 19) infection may present similarly. Diagnosis is made through viral isolation and serology. Documented infection is treated with adenine arabinoside or acyclovir.
Syphilis: Eighty percent have hepatomegaly, and 40% are jaundiced. Biopsy may show extramedullary hematopoiesis, parenchymal or portal inflammatory infiltrates, and granulomatous lesions. Although spirochetes may be seen, the diagnosis is typically made by serologic studies. Although penicillin is essential for the therapy of infants infected with syphilis, it may exacerbate syphilitic hepatic disease.
BRONCHOPULMONARY DYSPLASIA (BPD)
DEF: Chronic lung disease characterized by persistent tachypnea, dyspnea, hypoxemia, and hypercarbia in neonates surviving hyaline membrane disease.
ETIOL: BPD occurs in neonates with a history of pulmonary immaturity and acute lung injury who have been treated with ventilatory support. The premature lung is believed to be particularly susceptible oxygen (O2) toxicity and iatrogenic barotrauma, resulting in persistent respiratory insufficiency. Whether infection (e.g., Ureaplasma), oxidant injury, or barotrauma is the primary insult, the inflammatory process likely exacerbates the prolonged lung damage characteristic of BPD.
CLIN: Most neonates with acute lung disease recover completely within the first week of life. The diagnosis of BPD is suspected when an affected neonate (typically premature) fails to recover as anticipated and instead may have a gradual increase in O2 and ventilatory requirements during the first month of life.
STUDIES: No specific tests exist to confirm the diagnosis of BPD. However, chest radiographic findings of strandlike densities in both lung fields alternating with areas of normal or increased lucency are consistent with BPD. Other disorders to rule out include cystic fibrosis (sweat chloride test), a1-antitrypsin deficiency (a1-antitrypsin levels), patent ductus arteriosus (PDA) (murmur, echocardiography), and viral pneumonia (viral cultures).
TX: Ideally, management of acute lung disease in premature infants should be aimed at preventing BPD by limiting exposure to mechanical ventilation and O2 therapy (if possible), judicious fluid administration, prompt management of PDA, and attention to optimal nutrition. Once diagnosed with BPD, neonates benefit from chronic administration of O2 with maintenance of PaO2 greater than 60 mm Hg or an O2 saturation greater than 90%; this chronic O2 therapy reduces the risk of developing pulmonary hypertension and cor pulmonale, severe complications of BPD. Additional O2 may be required during sleep and feedings. Congestive heart failure can frequently complicate the treatment of BPD. The development of pulmonary and systemic edema often requires chronic parenteral fluid restriction. Enteral fluid is better tolerated. Diuretics may be used with care; thiazide diuretics are preferred because they decrease urinary calcium excretion and may help prevent osteopenia of prematurity. Increased airway resistance and bronchial hyperreactivity may be treated with theophylline or b-adrenergic agents. Antiinflammatory therapy may also reduce O2 requirements and shorten the period of ventilator support. The tachypnea and heightened respiratory effort associated with BPD require that these infants receive increased caloric intake to achieve adequate growth. Caloric intake should be adjusted to enable a sustained weight gain of at least 10 g/kg/day. Infants with BPD have an increased susceptibility for developing severe pneumonia; therefore, respiratory infections should be prevented by avoiding exposure of the infant to patients, hospital personnel, and family members with respiratory symptoms. When viral respiratory infections occur in infants with BPD, O2, bronchodilator, and diuretic use are often increased for at least 1 week. If respiratory failure develops and ventilator therapy is required, mortality is high and recovery prolonged. In comparison with premature infants lacking BPD, survivors of BPD may have an increased incidence of neurodevelopmental abnormalities, visual and hearing deficits, and rehospitalization for respiratory illness in the first year of life. Because lung growth continues for the first few years of life, pulmonary function improves over that time, with most survivors achieving normal exercise tolerance by school age; evidence of increased airway reactivity can persist into adult life in a high percentage of patients.
ETIOL: BPD occurs in neonates with a history of pulmonary immaturity and acute lung injury who have been treated with ventilatory support. The premature lung is believed to be particularly susceptible oxygen (O2) toxicity and iatrogenic barotrauma, resulting in persistent respiratory insufficiency. Whether infection (e.g., Ureaplasma), oxidant injury, or barotrauma is the primary insult, the inflammatory process likely exacerbates the prolonged lung damage characteristic of BPD.
CLIN: Most neonates with acute lung disease recover completely within the first week of life. The diagnosis of BPD is suspected when an affected neonate (typically premature) fails to recover as anticipated and instead may have a gradual increase in O2 and ventilatory requirements during the first month of life.
STUDIES: No specific tests exist to confirm the diagnosis of BPD. However, chest radiographic findings of strandlike densities in both lung fields alternating with areas of normal or increased lucency are consistent with BPD. Other disorders to rule out include cystic fibrosis (sweat chloride test), a1-antitrypsin deficiency (a1-antitrypsin levels), patent ductus arteriosus (PDA) (murmur, echocardiography), and viral pneumonia (viral cultures).
TX: Ideally, management of acute lung disease in premature infants should be aimed at preventing BPD by limiting exposure to mechanical ventilation and O2 therapy (if possible), judicious fluid administration, prompt management of PDA, and attention to optimal nutrition. Once diagnosed with BPD, neonates benefit from chronic administration of O2 with maintenance of PaO2 greater than 60 mm Hg or an O2 saturation greater than 90%; this chronic O2 therapy reduces the risk of developing pulmonary hypertension and cor pulmonale, severe complications of BPD. Additional O2 may be required during sleep and feedings. Congestive heart failure can frequently complicate the treatment of BPD. The development of pulmonary and systemic edema often requires chronic parenteral fluid restriction. Enteral fluid is better tolerated. Diuretics may be used with care; thiazide diuretics are preferred because they decrease urinary calcium excretion and may help prevent osteopenia of prematurity. Increased airway resistance and bronchial hyperreactivity may be treated with theophylline or b-adrenergic agents. Antiinflammatory therapy may also reduce O2 requirements and shorten the period of ventilator support. The tachypnea and heightened respiratory effort associated with BPD require that these infants receive increased caloric intake to achieve adequate growth. Caloric intake should be adjusted to enable a sustained weight gain of at least 10 g/kg/day. Infants with BPD have an increased susceptibility for developing severe pneumonia; therefore, respiratory infections should be prevented by avoiding exposure of the infant to patients, hospital personnel, and family members with respiratory symptoms. When viral respiratory infections occur in infants with BPD, O2, bronchodilator, and diuretic use are often increased for at least 1 week. If respiratory failure develops and ventilator therapy is required, mortality is high and recovery prolonged. In comparison with premature infants lacking BPD, survivors of BPD may have an increased incidence of neurodevelopmental abnormalities, visual and hearing deficits, and rehospitalization for respiratory illness in the first year of life. Because lung growth continues for the first few years of life, pulmonary function improves over that time, with most survivors achieving normal exercise tolerance by school age; evidence of increased airway reactivity can persist into adult life in a high percentage of patients.
BOTULISM
DEF: Neurotoxicity caused by Clostridium botulinum exotoxin, which irreversibly blocks acetylcholine release from presynaptic terminals of cholinergic neurons at the neuromuscular junction.
ETIOL: Infant botulism is distinct from food-borne and wound botulism in that it is caused by ingestion of C. botulinum spores rather than the exotoxin itself. Spores germinate in the intestine and generate exotoxin, which is distributed hematogenously. Infant botulism accounts for two-thirds of reported botulism cases in the United States. Although the toxin does not cross the blood–brain barrier, it accesses the cyto-plasmic membrane of peripheral cholinergic nerve endings, preventing exocytosis of acetylcholine at the neuromuscular junction. The resulting flaccid paralysis is potentially fatal. Infant botulism occurs almost exclusively within the first year of life and typically between 5 and 12 weeks of life. Honey has been implicated as the source of spores in 20% of cases; the contaminants have also been recovered from corn syrup. Yard soil is an environmental source of spores.
CLIN: History should focus on food intake and environmental exposures. Constipation often is the first sign of illness and typically is overlooked. Infants become listless and weak over the course of several days to weeks. Bulbar muscle involvement results in difficulty feeding and a weak cry. Drooling and pooling of food and secretions in the posterior pharynx may occur. Ptosis, ophthalmoplegia, diminished facial expression, and generalized muscle weakness and hypotonia (manifested initially as a loss of head control) are common findings. In severe cases, respiratory arrest can occur abruptly and may account for some cases of unexpected sudden death in infancy.
STUDIES: The diagnosis is confirmed by stool culture for C. botulinum, identification of toxin in the blood or stool, and electromyography.
TX: Treatment is directed toward aggressive supportive care, with particular attention to respiratory support. Infant botulism is a self-limited disease, typically lasting 2 to 6 weeks. Antitoxin and antibiotics do not influence the disease course; in fact, bacterial death caused by antibiotics can result in increased toxin release in the GI tract. In severe cases, infants may require prolonged ventilatory support. Constipation may persist for months and may improve with the use of stool softeners and adequate hydration. Close follow-up is required because relapse of infant botulism can occur after apparent resolution of clinical symptoms. The mortality rate of recognized cases of infant botulism is approximately 3%.
BILIARY ATRESIA
DEF: Progressive atresia or hypoplasia of any portion of the biliary system.
ETIOL: The incidence of biliary atresia ranges from 1 in 8,000 to 1 in 20,000 live births. The disorder appears to be acquired rather than a result of abnormal development, based on the rarity of biliary atresia in autopsied fetuses and premature newborns. One causative factor is believed to be infection with reovirus type 3.
CLIN: Infants with biliary atresia are typically born at term and have a normal birth weight. Jaundice develops at age 3 to 6 weeks in otherwise well-appearing, thriving infants. Fifteen percent of infants may have associated defects, including polysplenia (i.e., splenic tissue divided into several equally sized masses), cardiovascular anomalies, and malrotation of the intestine. Family history is usually negative.
STUDIES: Stool is acholic, collected duodenal fluid lacks bilirubin pigment or bile acids, and abdominal ultrasound may show absence of the gallbladder. Radionuclide hepatobiliary imaging demonstrates rapid uptake by the liver without intestinal excretion. Characteristic pathologic findings from percutaneous liver biopsy include bile duct proliferation, bile plugs, and portal and perilobular fibrosis. If the diagnosis is still uncertain after biopsy, surgical exploration with intraoperative cholangiography is used. This procedure enables recognition of biliary atresia and exclusion of other forms of bile duct disease, including stenosis or common bile duct perforation.
TX: If biliary obstruction occurs as a discrete lesion, surgical intervention is directed at drainage of patent portions of bile duct proximal to the atresia. Commonly, the atretic area extends above the level of the porta hepatis and affects intrahepatic bile ducts, making drainage difficult. In 80% of cases, a noncorrectable atresia is found. In these infants, further exploration is indicated to establish drainage of any small, persisting bile duct remnants. This procedure, known as the Kasai hepatoportoenterostomy, consists of transection of the porta hepatis followed by apposition of a Roux-en-Y loop of intestine. The success rate is 90% in infants younger than 2 months. In addition to infant age, the size of the residual duct lumina found during surgery is a factor in the success of this procedure; diameters less than 150 µm are associated with a poor prognosis. Treatment is not definitive, and patients may have progressive liver disease and bouts of bacterial cholangitis, requiring prompt treatment and nutritional support. Biliary atresia without intervention is universally fatal, with the mean age of death younger than 1 year. The Kasai procedure offers valuable time for the infant to grow before hepatic transplantation is necessary. Liver transplantation is essential in infants in whom the Kasai procedure fails, who are referred late (older than 120 days), and who develop liver failure despite some degree of biliary drainage.
ETIOL: The incidence of biliary atresia ranges from 1 in 8,000 to 1 in 20,000 live births. The disorder appears to be acquired rather than a result of abnormal development, based on the rarity of biliary atresia in autopsied fetuses and premature newborns. One causative factor is believed to be infection with reovirus type 3.
CLIN: Infants with biliary atresia are typically born at term and have a normal birth weight. Jaundice develops at age 3 to 6 weeks in otherwise well-appearing, thriving infants. Fifteen percent of infants may have associated defects, including polysplenia (i.e., splenic tissue divided into several equally sized masses), cardiovascular anomalies, and malrotation of the intestine. Family history is usually negative.
STUDIES: Stool is acholic, collected duodenal fluid lacks bilirubin pigment or bile acids, and abdominal ultrasound may show absence of the gallbladder. Radionuclide hepatobiliary imaging demonstrates rapid uptake by the liver without intestinal excretion. Characteristic pathologic findings from percutaneous liver biopsy include bile duct proliferation, bile plugs, and portal and perilobular fibrosis. If the diagnosis is still uncertain after biopsy, surgical exploration with intraoperative cholangiography is used. This procedure enables recognition of biliary atresia and exclusion of other forms of bile duct disease, including stenosis or common bile duct perforation.
TX: If biliary obstruction occurs as a discrete lesion, surgical intervention is directed at drainage of patent portions of bile duct proximal to the atresia. Commonly, the atretic area extends above the level of the porta hepatis and affects intrahepatic bile ducts, making drainage difficult. In 80% of cases, a noncorrectable atresia is found. In these infants, further exploration is indicated to establish drainage of any small, persisting bile duct remnants. This procedure, known as the Kasai hepatoportoenterostomy, consists of transection of the porta hepatis followed by apposition of a Roux-en-Y loop of intestine. The success rate is 90% in infants younger than 2 months. In addition to infant age, the size of the residual duct lumina found during surgery is a factor in the success of this procedure; diameters less than 150 µm are associated with a poor prognosis. Treatment is not definitive, and patients may have progressive liver disease and bouts of bacterial cholangitis, requiring prompt treatment and nutritional support. Biliary atresia without intervention is universally fatal, with the mean age of death younger than 1 year. The Kasai procedure offers valuable time for the infant to grow before hepatic transplantation is necessary. Liver transplantation is essential in infants in whom the Kasai procedure fails, who are referred late (older than 120 days), and who develop liver failure despite some degree of biliary drainage.
ANEMIA IN CHILDREN
ANEMIA
DEF: Hematocrit and hemoglobin concentration below normal levels.
CONDITION: Physiologic anemia of infancy/anemia of prematurity.
ETIOL/CLIN: Soon after birth, erythropoiesis almost ceases because of the oxygen-rich milieu and relative excess of red blood cells (RBCs); this results in a decrease in hemoglobin values during the first several months of life, the severity of which is related to birth weight, perinatal complications, blood transfusion history, and vitamin E deficiency. Nadir hemoglobin values can reach 9.5 g/dL at 3 months in term infants and 6 g/dL in 6- to 8-week-old premature infants. Recovery is heralded by a slight elevation in the reticulocyte count and a rise in hemoglobin levels to those seen throughout the remainder of infancy.
Tx: Healthy term infants and asymptomatic growing premature infants require no therapy. Iron supplementation may be indicated during the recovery phase to support erythropoiesis.
CONDITION: Blood loss.
ETIOL/CLIN: Anemia owing to blood loss is more common in the new-born period than in any other time in childhood. Acute hemorrhage (>20% to 30% blood volume) results in shock. Jaundice is absent. External blood loss commonly occurs from the gastrointestinal (GI) tract. To determine whether hematemesis or melena derives from the infant's or mother's blood, the Apt test for fetal hemoglobin is used. The Kleihauer-Batke stain for fetal hemoglobin–containing RBCs in the mother's blood can provide an estimate of the degree of transplacental hemorrhage. In sick premature infants, the most common cause of blood loss is the iatrogenic withdrawal of multiple specimens for testing.
TX: Treatment depends on the amount and duration of blood loss. Signs of hypovolemia dictate that the infant receive immediate volume replacement [crystalloid, plasma protein fraction, whole blood, packed RBCs (pRBCs)]. pRBCs alone may be indicated for less acute degrees of anemia.
CONDITION: ABO incompatibility.
ETIOL/CLIN: Maternal alloantibody can cross the placenta and may bind antigens on fetal/neonatal RBCs, causing hemolytic anemia. Affected babies present with jaundice during the first several days of life. In some cases, symptomatic anemia does not manifest until 4 to 6 weeks after birth. Although the reticulocyte count is elevated (5% to 15%), anemia is absent or mild. The peripheral smear shows increased nucleated RBCs and microspherocytes. Maternal and fetal blood type testing show the corresponding ABO incompatibility “set-up” (mother is blood group O; baby is A or B). Direct and indirect Coombs testing is positive.
TX: Phototherapy or exchange transfusion may be required to treat hyperbilirubinemia.
CONDITION: Rh incompatibility.
ETIOL/CLIN: Incompatibility between the mother and child in the major antigen of the rhesus complex can cause erythroblastosis fetails. Rh-negative mothers sensitized to D-positive blood produce antibodies that cross the placenta and coat D-positive fetal blood, resulting in hemolytic anemia. Severely anemic fetuses may die in utero, or neonates may be born with hydrops fetails, characterized by anasarca (from hypoalbuminemia and congestive heart failure), severe anemia, and massive hepatosplenomegaly. Less severely affected neonates (benefiting from early detection and vigorous treatment during pregnancy and delivery) may have less severe anemia. Direct and indirect Coombs testing is positive. Hyperbilirubinemia is present. The peripheral smear shows polychromasia, nucleated RBCs, and no microspherocytes.
TX: Early detection during prenatal care and Rhogam therapy prevent maternal sensitization. Intrauterine transfusion of pRBCs can correct fetal anemia. Treatment during the neonatal period consists of exchange transfusion for marked anemia and hyperbilirubinemia and pRBCs for less severe anemia. Careful follow-up is required during the first 2 to 3 months of life to monitor for delayed anemia resulting from persistent anti-D antibody.
CONDITION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
ETIOL/CLIN: G6PD deficiency is the most common inherited intrinsic disorder of RBCs. It typically occurs in black, Mediterranean, and Asian males. Oxidant stresses from drugs or infection cause hemoglobin to precipitate, forming Heinz bodies seen on the peripheral smear. Oxidant stresses at delivery and premature birth may trigger neonatal hemolysis and hyperbilirubinemia. The diagnosis is made with specific screening tests and enzyme assays.
TX: Hemolysis and hyperbilirubinemia may require exchange transfusion.
CONDITION: Hereditary spherocytosis.
ETIOL/CLIN: Hereditary spherocytosis is the most common congenital hemolytic anemia presenting with jaundice and anemia during the neonatal period. It is an autosomal dominant disorder common in whites of northern European descent. The blood smear contains numerous microspherocytes. There is no evidence of ABO incompatibility (i.e., negative Coombs test).
TX: Hemolysis and hyperbilirubinemia may require exchange transfusion.
CONDITION: Anemia related to mechanical or toxic factors.
ETIOL/CLIN: Mechanical or toxic factors. Damage to erythrocytes can occur from toxins produced by infection or from mechanical injury mediated by fibrin strands or altered microvasculature, such as in disseminated intravascular coagulation (DIC).
TX: Treatment depends on the etiology. Blood product transfusion may be required.
CONDITION: Decreased RBC production.
ETIOL/CLIN: Anemia resulting from diminished RBC production is uncommon at birth and is reflected by a diminished or absent reticulocyte count. Causes include malignancy, sepsis (relative myelosuppression), iron deficiency, Diamond-Blackfan syndrome (congenital pure RBC aplasia), and a-thalassemia syndromes.
TX: Treatment depends on the etiology. Vigorous resuscitation measures and blood transfusions may be required.
DEF: Hematocrit and hemoglobin concentration below normal levels.
CONDITION: Physiologic anemia of infancy/anemia of prematurity.
ETIOL/CLIN: Soon after birth, erythropoiesis almost ceases because of the oxygen-rich milieu and relative excess of red blood cells (RBCs); this results in a decrease in hemoglobin values during the first several months of life, the severity of which is related to birth weight, perinatal complications, blood transfusion history, and vitamin E deficiency. Nadir hemoglobin values can reach 9.5 g/dL at 3 months in term infants and 6 g/dL in 6- to 8-week-old premature infants. Recovery is heralded by a slight elevation in the reticulocyte count and a rise in hemoglobin levels to those seen throughout the remainder of infancy.
Tx: Healthy term infants and asymptomatic growing premature infants require no therapy. Iron supplementation may be indicated during the recovery phase to support erythropoiesis.
CONDITION: Blood loss.
ETIOL/CLIN: Anemia owing to blood loss is more common in the new-born period than in any other time in childhood. Acute hemorrhage (>20% to 30% blood volume) results in shock. Jaundice is absent. External blood loss commonly occurs from the gastrointestinal (GI) tract. To determine whether hematemesis or melena derives from the infant's or mother's blood, the Apt test for fetal hemoglobin is used. The Kleihauer-Batke stain for fetal hemoglobin–containing RBCs in the mother's blood can provide an estimate of the degree of transplacental hemorrhage. In sick premature infants, the most common cause of blood loss is the iatrogenic withdrawal of multiple specimens for testing.
TX: Treatment depends on the amount and duration of blood loss. Signs of hypovolemia dictate that the infant receive immediate volume replacement [crystalloid, plasma protein fraction, whole blood, packed RBCs (pRBCs)]. pRBCs alone may be indicated for less acute degrees of anemia.
CONDITION: ABO incompatibility.
ETIOL/CLIN: Maternal alloantibody can cross the placenta and may bind antigens on fetal/neonatal RBCs, causing hemolytic anemia. Affected babies present with jaundice during the first several days of life. In some cases, symptomatic anemia does not manifest until 4 to 6 weeks after birth. Although the reticulocyte count is elevated (5% to 15%), anemia is absent or mild. The peripheral smear shows increased nucleated RBCs and microspherocytes. Maternal and fetal blood type testing show the corresponding ABO incompatibility “set-up” (mother is blood group O; baby is A or B). Direct and indirect Coombs testing is positive.
TX: Phototherapy or exchange transfusion may be required to treat hyperbilirubinemia.
CONDITION: Rh incompatibility.
ETIOL/CLIN: Incompatibility between the mother and child in the major antigen of the rhesus complex can cause erythroblastosis fetails. Rh-negative mothers sensitized to D-positive blood produce antibodies that cross the placenta and coat D-positive fetal blood, resulting in hemolytic anemia. Severely anemic fetuses may die in utero, or neonates may be born with hydrops fetails, characterized by anasarca (from hypoalbuminemia and congestive heart failure), severe anemia, and massive hepatosplenomegaly. Less severely affected neonates (benefiting from early detection and vigorous treatment during pregnancy and delivery) may have less severe anemia. Direct and indirect Coombs testing is positive. Hyperbilirubinemia is present. The peripheral smear shows polychromasia, nucleated RBCs, and no microspherocytes.
TX: Early detection during prenatal care and Rhogam therapy prevent maternal sensitization. Intrauterine transfusion of pRBCs can correct fetal anemia. Treatment during the neonatal period consists of exchange transfusion for marked anemia and hyperbilirubinemia and pRBCs for less severe anemia. Careful follow-up is required during the first 2 to 3 months of life to monitor for delayed anemia resulting from persistent anti-D antibody.
CONDITION: Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
ETIOL/CLIN: G6PD deficiency is the most common inherited intrinsic disorder of RBCs. It typically occurs in black, Mediterranean, and Asian males. Oxidant stresses from drugs or infection cause hemoglobin to precipitate, forming Heinz bodies seen on the peripheral smear. Oxidant stresses at delivery and premature birth may trigger neonatal hemolysis and hyperbilirubinemia. The diagnosis is made with specific screening tests and enzyme assays.
TX: Hemolysis and hyperbilirubinemia may require exchange transfusion.
CONDITION: Hereditary spherocytosis.
ETIOL/CLIN: Hereditary spherocytosis is the most common congenital hemolytic anemia presenting with jaundice and anemia during the neonatal period. It is an autosomal dominant disorder common in whites of northern European descent. The blood smear contains numerous microspherocytes. There is no evidence of ABO incompatibility (i.e., negative Coombs test).
TX: Hemolysis and hyperbilirubinemia may require exchange transfusion.
CONDITION: Anemia related to mechanical or toxic factors.
ETIOL/CLIN: Mechanical or toxic factors. Damage to erythrocytes can occur from toxins produced by infection or from mechanical injury mediated by fibrin strands or altered microvasculature, such as in disseminated intravascular coagulation (DIC).
TX: Treatment depends on the etiology. Blood product transfusion may be required.
CONDITION: Decreased RBC production.
ETIOL/CLIN: Anemia resulting from diminished RBC production is uncommon at birth and is reflected by a diminished or absent reticulocyte count. Causes include malignancy, sepsis (relative myelosuppression), iron deficiency, Diamond-Blackfan syndrome (congenital pure RBC aplasia), and a-thalassemia syndromes.
TX: Treatment depends on the etiology. Vigorous resuscitation measures and blood transfusions may be required.
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