Common Neonatal Problems

1. Common Neonatal Problems Dr.Atyah Alzahrani Consultant neonatologist KFMC

2. signs of serious sickness in a neonate � �A baby who is feeding well on the breast and has warm and pink palms and soles is a healthy baby. The following are the danger signs in neonates: Fever/ feels cold to touch despite adequate clothing and warm environment Loose stools Abnormal movements suggestive of convulsions Continuous crying Cough/breathing difficulty Irritability Lethargy Inability to feed Persistent vomiting Abdominal distension Pus from ears/ umbilical stump/ boils over skin

3. Prenatal diagnosis warranting special care Significant prematurity (less than 34 to 35 weeks' gestation) Intrauterine growth restriction Respiratory distress. Twin-to-twin transfusion syndrome Clinically significant congenital anomalies Hyperbilirubenemia. Maternal conditions (e.g., drug use, diabetes) Maternal medications resulting in neonatal depression (e.g., opiates for pain control, magnesium sulfate) Risk factors for sepsis (e.g., clinical chorioamnionitis). Asphyxia, low 5-minute Apgar score, prolonged resuscitation Placental abruption, placenta previa.

4. Early postnatal period Cardiorespiratory Poor peripheral perfusion (slow capillary refill, low blood pressure) Respiratory distress (grunting, tachypnea more than 60 breaths per minute, intercostal retractions) Cyanosis (congenital heart disease) Apnea and/or cyanotic episodes Gastrointestinal Feeding intolerance No meconium passage by 24 hours of age Bilious vomiting Neurologic Seizures Signs of drug withdrawal Poor tone Lethargy

5. Jaundice Any visible jaundice at less than 24 hours of age Clinically significant, age-specific hyperbilirubinemia Rate of rise of bilirubin more than 0.5 mg per dL (8.55 �mol per L) per hour Metabolic and others Temperature instability (consistently below 36.4�C [97.5�F]) Low blood glucose level (less than 45 mg per dL [2.5 mmol per L]) or high blood glucose level (more than 180 mg per dL [10.0 mmol per L]) Petechiae and purpura Clinically significant congenital anomalies Early postnatal period

6. Congenital Heart Disease (CHD) A. Murmurs noted in the first day are usually pathological. B. The Newborn examination picks up 90% of CHD. C. Neonatal cardiac examination does not need to be repeated in the first week for those babies who are discharged early. D. Reduced femoral pulses suggest coarctation and need urgent investigation. E.�Basal crepitations and peripheral oedema are the most reliable signs of CHF in a neonate.

7. Congenital Heart Disease Cyanotic. A cyanotic.

8. Clues to Significant CHD Is there a family history of CHD? Is the baby normal or is there a syndrome? Downs Williams Velocardiofacial (C/S 22 deletion) Is the patient cyanosed or symptomatic ?

9. �Many newborns who are otherwise normal develop yellow color of their skin (jaundice) after the first day. This is called physiological jaundice. It appears on the second day, reaches a peak on the 4th or 5th day and �then disappears by 7th or 8th day. �If the baby has jaundice that appears within 24 hours of birth, persists beyond 14 days of life, or is deep,� involving� abdomen, palms and soles, he must be evaluated.� Neonatal Jaundice

10. Pathological Jaundice Jaundice is Early High Late Prolonged Conjugated The neonate is sick

11. Bilirubin

12. Formation of Bilirubin:Overview

13. Bilirubin Metabolism

18. SUMMARY

19. Bilirubin and Jaundice

20. The general symptom of neonatal jaundice Yellow skin� Yellow eyes (sclera) Poor feeding in infants Brown urine Fever High-pitch cry Vomiting

21. Brown urine

22. Grading of extent of jaundice 1

23. Grading of extent of jaundice 2

24. Hemolytic disease of newborn This condition occurs when there is an incompatibility between the blood types of the mother and baby.

25. Are they use the same circulation system?

26. Placental barrier ..

27. The blood types(A, B, O, AB) Although it is not as common (especially in a first pregnancy), a similar problem of incompatibility may happen between the blood types (A, B, O, AB) of the mother and baby in the following situations:

28. The blood types(A, B, O, AB)

29. The blood types (Rh)

30. Kernicterus Kernicterus is damage to the brain centers of infants caused by increased levels of unconjugated-indirect bilirubin which is free (not bound to albumin).

31. Hyperbilirubinemia

32. Serum Bilirubin >270 - 300 Blood group and DCT FBC and blood film G6PD (depending on ethnic group) Direct SBR

33. Treatment Guidelines Birth wt phototherapy exchange <1000g 100 200 1000 - 1499 150 250 1500 - 1999 200 300 2000 - 2499 250 350 >2500 340 450

34. Treatment Guidelines Higy risk :- SBR rising >17 micromol/ L/ hour Serum albumin <2.5g/ L Persistent acidaemia Persistent hypoxaemia Persistent hypercarbia Proven sepsis Hypoglycaemia

39. Current Controversy Need for treatment Based on Hsia�s work in 1952 on Term babies with rhesus haemolytic disease but can we extrapolate from this? Association between total SBR and kernicterus 3% babies with peak SBR 103 - 256 18% babies with peak SBR 274 - 513 50% babies with peak SBR > 530 Separation of mother and baby Risk of lactation failure

40. Bilirubin and the Premature Infant

41. Prolonged Jaundice > 2 WEEKS indirect Breast milk jaundice Hypothyroidism Urinary tract infection Glucuronosyl transferase deficiency Crigler-Najjar (type 1 and 2) Gilbert�s syndrome

42. Prolonged Jaundice Conjugated (Direct) SBR raised(> 20 %) Well infant Biliary obstruction Neonatal hepatitis Biliary atresia Alpha1 antitrypsin deficiency Hypothyroidism Sick infant Sepsis : E coli UTI Galactosaemia Hypopituitarism

43. Neonatal sepsis Incidence 1 � 10/1000 live births Varies within and between nurseries Reduced by prophylaxis

44. Neonatal Infection Congenital infections: generally acquired before delivery Early onset: usually acquired during delivery and presenting within the first 72 hours of life Late onset: often acquired in the hospital and presenting after 72 hours of life

45. Risk factors for neonatal sepsis Maternal GBS colonization Prolonged rupture of membranes Preterm delivery GBS bacteriuria during pregnancy Delivery of a previous infant with invasive GBS disease Maternal chorioamnionitis as evidenced by intrapartum fever Young maternal age Black race Hispanic ethnicity Low levels of antibody to type-specific capsular polysaccharide antigens Frequent vaginal examinations during labor

46. Signs of neonatal sepsis Temperature instability lethargy irritability apnea respiratory distress hypotension

47. Bacteria Causing Nosocomial Infection in NICU

48. Laboratory evaluation Full Blood Count C Reactive Protein Coagulation studies Cytokines level (Interleukins) Blood culture CSF culture Urine culture CXR Tracheal aspirate/nasopharangeal culture

49. Antimicrobial therapy For newborns with suspected bacterial infections, ampicillin and an aminoglycoside are considered standard empirical therapy. Ampicillin provides coverage for gram-positive infections (GBS). Gentamicin: GNB and for synergy with ampicillin against GBS. Cefotaxime, a third-generation cephalosporin with superior CSF penetration compared with gentamicin, may be considered in cases of documented or highly suspected gram-negative meningitis. Vancomycin, or nafcillin, sometimes is substituted for ampicillin for suspected nosocomial infections Amphotericine

50. Antimicrobial therapy Duration of antibiotic therapy is generally 10 days for confirmed bacteremia, 14 days for meningitis caused by gram-positive organisms, and 21 days for gram-negative meningitis. Know your own unit antimicrobial susceptibility pattern Routine use of third-generation cephalosporin agents as empirical therapy should be avoided, because their use promotes expression of chromosomal b-lactamases associated with resistance of Enterobacter. Extended use of broad-spectrum antibiotics, day of life (less than 30 days), and birth weight are the key factors enhancing the risk for invasive candidiasis.

51. Supportive care and monitoring Once symptomatic, neonates with sepsis should be treated in an intensive-care nursery, with full cardiopulmonary monitoring and availability of ventilatory support. Cardiac output and perfusion are maintained with volume infusions and pressor agents, as needed. Anemia, thrombocytopenia, and disseminated intravascular coagulation are treated with appropriate transfusions. Aggressive nutritional support is needed to combat the catabolic state associated with sepsis. The role of WBC transfusions, intravenous immunoglobulin infusions, and treatment with colony-stimulating factors such as granulocyte and granuloctye- macrophage colony-stimulating factor have not been shown to definitely improve outcome in neonates with sepsis.

52. Prevention of perinatal group B streptococcal disease

53. Recommended regimens for intrapartum antimicrobial prophylaxis for perinatal GBS disease prevention Penicillin G, 5 million units IV initial dose, then 2.5 million units IV every 4 hours until delivery Alternative: Ampicillin, 2 g IV initial dose, then 1 g IV every 4 hours until delivery

54. What is Necrotizing Enterocolitis? Life-threatening, acute inflammation of the bowel wall that disrupts intestinal function in newborns. Most commonly affects terminal ileum and ascending colon. Bowel wall necrosis of variable length and depth.

55. Epidemiology 1-8% of all NICU admissions. It varies from nursery to nursery . It is markedly increased in infants at lower gestational ages. most commonly affects babies born between 30-32 weeks. The onset is usually 3 to 10 days after birth. (early in term) occurs more often in previously fed infants. No seasonal pattern for NEC. The mortality from NEC has been cited as 10% to 50% of all NEC cases.

56. Pathogenesis of Necrotizing Enterocolitis

57. Proposed Risk Factors Prematurity Perinatal asphyxia RDS Umbilical catheterization Hypothermia Shock Hypoxia PDA Cyanotic congenital heart disease Polycythemia Thrombocytosis Anemia Exchange transfusion Congenital GI anomalies Chronic diarrhea Non-breast milk formula Naso-jejunal (NJ) feedings Hypertonic formula Too much formula - too fast Hospitalization during an epidemic Colonization with necrogenic bacteria

58. Clinical Manifestations

60. Radiographic Evaluation Pneumatosis intestinalis (70-80 %). Portal venous gas. Fixed, dilated loop of bowel. Pneumoperitoneum. A gasless abdomen may indicate perforation and peritonitis.

61. Treatment Medical Upon recognition or suspicion of NEC early and aggressive treatment should be started. Bowel rest with nasogastric decompression. Vigorous intravenous fluid resuscitation. Correction of hematocrit, electrolytes imbalance. Abdominal X-ray every 6 hours during the acute phase. Intubation and ventilation for apnea and bradycardia. DIC should be treated with FFP and platelet transfusion. TPN as soon as electrolytes balanced. NPO for at least 5 days after GI function, abdominal examination, and abdominal films are normal (usually 10 to 14 days from the onset).

62. TreatmentSurgical Indications for surgery are commonly accepted to be as follows Highly specific indications. Pneumoperitoneum. Positive paracentesis. Fixed loop on serial radiographs. Erythema on the abdominal wall. Abdominal mass. Portal venous gas. Nonspecific supportive findings Abdominal tenderness. Persistent thrombocytopenia (<100,000/mm3). Progressive neutropenia. Clinical deterioration. Severe GI bleeding.

63. Conclusion NEC is a life threatening disease. Pathogenesis is multi-factorial and not completely understood. Model development and more NEC research is needed. Diagnosis is clinical. Management is mainly supportive. Early recognition and aggressive treatment improve the out come.

64. What is the cause of vomiting in neonates? �Irritation of stomach by swallowed amniotic fluid. Vomiting/ regurgitation after feeds is also very common and is due to ingestion of air during feeding. The milk brought out is usually small in amount and is curdled,but the baby continues to gain weight adequately. The regurgitation of milk �can be prevented by use of proper feeding position by mother and burping the baby for 10 to 15 minutes after each feed. This helps in bringing out the swallowed air. Burping is done by tapping on the back keeping her/him in upright position on the lap. If the vomiting is persistent, projectile, yellow/green colored or is interfering with weight gain, the baby needs to be evaluated .

65. Vomiting Sepsis GI obstruction. GI infection. UTI. Metabolic disorder.

66. What are the signs of cord infection? If the cord gets infected, it looks damp or wet. The skin around the base of the cord may become red and some-times pus may be seen. A baby with infection of the cord requires treatment . If the treatment is delayed, the baby may develop additional features like fever, lethargy or poor feeding. These signs indicate that the infection is spreading to the rest of the body as well. Cultures . Broad spectrum antibiotics.

67. Intrauterine growth restriction (IUGR) A baby with�this condition grows more slowly than usual in utero, and is smaller than normal for his gestational age at birth.� IUGR is ordinarily diagnosed during pregnancy through an ultrasound. It usually is due to fetal or maternal complications. Upon admission to the NICU, babies are tested to determine possible causes, although this isn't always able to be determined.

68. Intrauterine Growth Restriction (IUGR) No universal definition Any baby who does not achieve intrauterine growth potential Usually defined as < 2 SD below the mean for weight.

69. Small for Gestational Age (SGA) Usually defined as <2SD or <10th % for growth parameters Babies <3% are at greatest risk of morbidity and mortality. Babies who are constitutionally small are at less risk of complications than those who are SGA from pathologic process.

70. Etiology of SGA Maternal Factors Placental Factors Fetal Factors

71. Maternal Factors Genetic size Demographics Age (extremes of reproductive age) Race Socioeconomic status Underweight before pregnancy or malnutrition Chronic disease Exposure to teratogens (EtOH, drugs, radiation, etc.)

72. Maternal Factors (cont.) Heart disease Renal disease Hypertension Pulmonary disease Hemoglobinopathies Collagen-vascular disease Diabetes Postmaturity Multiple gestation Uterine anomalies Thrombotic disease High altitude environment Smoking Cocaine

73. Placental Factors Malformations � vascular Chorioangioma Infarction Abruption Previa Abnormal trophoblast invasion

74. Fetal Factors Constitutional � genetically small, but genetically normal Chromosomal abnormality � only about 5% of SGA babies Malformations � CNS, skeletal, gastroschisis Congenital infections � CMV, rubella

75. Symmetric Early onset Constitutional or �normal� small Decreased growth potential Normal ponderal index Lower risk for transitional problems Brain symmetrical to body Examples Genetic causes, chromosomal TORCH infections Syndromes

76. Characteristics of IUGR

77. Careful physical examination Measure & plot head circumference & length CBC with differential and platelet count Monitor glucose carefully Further evaluation? Urine for CMV TORCH titers Liver function tests Head Ultrasound

78. Mortality rate 5-20x that of AGA Perinatal asphyxia Abnormal temperature regulation Hypoglycemia Hyperviscosity-polycythemia syndrome Altered immunity Thrombocytopenia

79. Intraventricular hemorrhage (IVH) IVH refers to bleeding in the brain and is most common in the smallest premature babies (those weighing less than 1250gm). The bleeds usually occur in the first four days of life. Bleeding generally occurs near the fluid-filled spaces (ventricles) in the center of the brain. An ultrasound examination can show whether a baby has had a brain bleed and how severe it is.Brain bleeds are usually given a number from 1 to 4, with 4 being the most severe. Most brain bleeds are mild (grades 1 and 2) and resolve themselves with no or few lasting problems. More severe bleeds can cause difficulties for the baby during the hospitalization and possible complications in the future. Some will require careful monitoring of the baby's development throughout infancy and childhood.

80. Anemia Premature babies are often anemic. This means that they don't have enough red blood cells. Normally, the fetus stores iron during the latter months of pregnancy and uses it after birth to make red blood cells. Infants born too soon may not have had enough time to store iron. Loss of blood from frequent blood tests also can contribute to anemia. Anemic infants may be treated with dietary iron supplements, drugs that increase red blood cell production, or, in some cases, a blood transfusion. Hemolytic anemia.

81. Anaemia Cord blood hemoglobin is 16.8 g/dL (14�20 g/dL) Pallor, heart failure, shock Haemolytic disease of the newborn, transplacental haemorrhage Blood transfusion ANAEMIA Hemoglobin increases with advancing gestational age: at term, cord blood hemoglobin is 16.8 g/dL (14�20 g/dL); hemoglobin levels in very low birthweight (VLBW) infants are 1�2 g/dL below those at term (Fig. 99�1). Determinations of less than the normal range for birthweight and postnatal age are defined as anemia Anemia at birth is manifested by pallor, heart failure, or shock. It may be due to acute or chronic blood loss, hemolysis, or underproduction of erythrocytes. It is usually caused by hemolytic disease of the newborn but may also be a result of tearing or cutting of the umbilical cord during delivery, abnormal cord insertions, communicating placental vessels, placenta previa or abruptio, nuchal cord, incision into the placenta, internal hemorrhage (liver, spleen, or intracranial), a-thalassemia, congenital parvovirus infection or hypoplastic anemias, and twin-twin transfusion in monozygotic twins with arteriovenous placental connections Transplacental hemorrhage - by demonstrating significant amounts of fetal hemoglobin and red blood cells (RBCs) in the maternal blood on the day of delivery by the Kleihauer-Betke test Anemia appearing in the first few days after birth is also most frequently a result of hemolytic disease of the newborn. Other causes are hemorrhagic disease of the newborn, bleeding from an improperly tied or clamped umbilical cord, large cephalohematoma, intracranial hemorrhage, or subcapsular bleeding from rupture of the liver, spleen, adrenals, or kidneys Congenital hemolytic anemia (spherocytosis) occasionally appears during the 1st mo of life, and hereditary nonspherocytic hemolytic anemia has been described during the neonatal period secondary to deficiency of such enzymes as glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase Anemia of prematurity occurs in low birthweight (LBW) infants 1�3 mo after birth, is associated with hemoglobin levels below 7�10 g/dL, and presents with clinical manifestations such as pallor, apnea, poor weight gain, decreased activity, tachypnea, tachycardia, and feeding problems Treatment of neonatal anemia by blood transfusion depends on the severity of symptoms, the hemoglobin level, and the presence of co-morbid diseases (chronic lung disease, cyanotic congenital heart disease, hyaline membrane disease) that interfere with oxygen delivery. Early Neonatal Period Fetal hemorrhage: vasa previa, placenta previa, abruption, amniocentesis, incision of placenta at C-section. Fetomaternal transfusion (check Kleihauer-Bettke test). Twin-to-twin transfusion. Early cord clamping (failure of normal placentofetal transfusion), and fetoplacental transfusion (baby held above mother). Acute or chronic fetal hemolysis: Rh incompatibility, alpha-thalassemia, intrauterine infection. Neonatal hemorrhage: ruptured liver or spleen, fractures, intracranial, pulmonary, gastrointestinal, from umbilical cord, subaponeurotic, extensive hematoma or bruising. Intrauterine bone marrow failure (e.g. Diamond-Blackfan). Iatrogenic. Late Neonatal Period Iatrogenic. Chronic hemolysis: Rh, ABO, red cell defects, enzyme defects, hemoglobinopathies, infection. Sepsis. Bleeding diastheses: Vitamin K deficiency, DIC, intraventricular hemorrhage. Physiologic anemia of prematurity ("early anemia"), due to deficient erythropoiesis and diminished red cell survival. Late anemia of prematurity, due to iron deficiency (usually after 8 weeks). Vitamin E deficiency hemolytic anemia. Possible folate and Vitamin B-12 deficiencies. Bone marrow failure. ANAEMIA Hemoglobin increases with advancing gestational age: at term, cord blood hemoglobin is 16.8 g/dL (14�20 g/dL); hemoglobin levels in very low birthweight (VLBW) infants are 1�2 g/dL below those at term (Fig. 99�1). Determinations of less than the normal range for birthweight and postnatal age are defined as anemia Anemia at birth is manifested by pallor, heart failure, or shock. It may be due to acute or chronic blood loss, hemolysis, or underproduction of erythrocytes. It is usually caused by hemolytic disease of the newborn but may also be a result of tearing or cutting of the umbilical cord during delivery, abnormal cord insertions, communicating placental vessels, placenta previa or abruptio, nuchal cord, incision into the placenta, internal hemorrhage (liver, spleen, or intracranial), a-thalassemia, congenital parvovirus infection or hypoplastic anemias, and twin-twin transfusion in monozygotic twins with arteriovenous placental connections Transplacental hemorrhage - by demonstrating significant amounts of fetal hemoglobin and red blood cells (RBCs) in the maternal blood on the day of delivery by the Kleihauer-Betke test Anemia appearing in the first few days after birth is also most frequently a result of hemolytic disease of the newborn. Other causes are hemorrhagic disease of the newborn, bleeding from an improperly tied or clamped umbilical cord, large cephalohematoma, intracranial hemorrhage, or subcapsular bleeding from rupture of the liver, spleen, adrenals, or kidneys Congenital hemolytic anemia (spherocytosis) occasionally appears during the 1st mo of life, and hereditary nonspherocytic hemolytic anemia has been described during the neonatal period secondary to deficiency of such enzymes as glucose-6-phosphate dehydrogenase (G6PD) and pyruvate kinase Anemia of prematurity occurs in low birthweight (LBW) infants 1�3 mo after birth, is associated with hemoglobin levels below 7�10 g/dL, and presents with clinical manifestations such as pallor, apnea, poor weight gain, decreased activity, tachypnea, tachycardia, and feeding problems Treatment of neonatal anemia by blood transfusion depends on the severity of symptoms, the hemoglobin level, and the presence of co-morbid diseases (chronic lung disease, cyanotic congenital heart disease, hyaline membrane disease) that interfere with oxygen delivery. Early Neonatal Period Fetal hemorrhage: vasa previa, placenta previa, abruption, amniocentesis, incision of placenta at C-section. Fetomaternal transfusion (check Kleihauer-Bettke test). Twin-to-twin transfusion. Early cord clamping (failure of normal placentofetal transfusion), and fetoplacental transfusion (baby held above mother). Acute or chronic fetal hemolysis: Rh incompatibility, alpha-thalassemia, intrauterine infection. Neonatal hemorrhage: ruptured liver or spleen, fractures, intracranial, pulmonary, gastrointestinal, from umbilical cord, subaponeurotic, extensive hematoma or bruising. Intrauterine bone marrow failure (e.g. Diamond-Blackfan). Iatrogenic. Late Neonatal Period Iatrogenic. Chronic hemolysis: Rh, ABO, red cell defects, enzyme defects, hemoglobinopathies, infection. Sepsis. Bleeding diastheses: Vitamin K deficiency, DIC, intraventricular hemorrhage. Physiologic anemia of prematurity ("early anemia"), due to deficient erythropoiesis and diminished red cell survival. Late anemia of prematurity, due to iron deficiency (usually after 8 weeks). Vitamin E deficiency hemolytic anemia. Possible folate and Vitamin B-12 deficiencies. Bone marrow failure.

82. Breathing problems Premature babies often have breathing problems because their lungs aren't fully developed. Full-term babies also can develop breathing problems due to complications of labor and delivery, birth defects, and infections.

83. Apnea Premature babies sometimes don't breathe regularly. A baby may take a long breath, then a short one, then pause for five to ten seconds before starting to breathe normally. This is called periodic breathing. It usually isn't harmful, and the baby will outgrow it.Premature and sick babies also may stop breathing for 15 to 20 seconds or more. This interruption in breathing is called apnea. It may be accompanied by a slow heart rate , bradycardia. Babies in the NICU are constantly monitored for apnea and bradycardia . Sensors on the baby's chest. Stimulation medication C-PAP (continuous positive airway pressure).

84. Respiratory Distress in the Newborn This is a spectrum of clinical features including Tachypnoea (Respiratory rate of more than 60 breath/min). nasal flare. expiratory grunting. chest retractions. cyanosis.

85. Causes Causes of Respiratory Distress in the Newborn Pulmonary Causes Extra Pulmonary Causes Cardio Vascular Disorders Congenital Heart Disease Congestive Heart Failure Persistent Pulmonary Hypertension Airway Obstruction Choanal Artesia Pierre � Robin Syndrome Laryngeal Web Goiter Vascular ring T-E Fistula

86. Causes Diaphragmatic Disorders Phrenic Nerve Injury Diaphragmatic Hernia Eventration of diaphragm Lung disorders RDS Congenital anomalies.

87. RDSPathogenesis

88. Clinical features Physical Examination Signs of respiratory distress : Cyanosis Tachypnea >60 /min, shallow, rapid Grunting ( delayed expiration maintains FRC ) Retraction ( Subcostal, substernal, intercostal ) Flaring airway resist in nose& pharynx Temperature, Blood pressure, Skin perfusion

89. Management Concepts Respiratory Prevent hypoxia and acidosis Prevent worsening atelectasis, edema Minimize barotrauma and hyperoxia Supportive management Optimize fluid and nutrition management Perfusion, Infection, Temperature control

90. Supportive therapy Temperature regulation : A neutral thermal environment reduces metabolism, O2 consumption and CO2 production Fluid balance: Avoid excessive fluids which may increase pulmonary edema and risk of PDA and BPD. Early TPN preferred. Most infants have spontaneous diuresis on Day 2-4 preceding improvement in pulmonary function.

91. Management (contd) Respiratory management Surfactant replacement therapy Ventilatory Assistance Oxygen therapy CPAP ( Nasal, IMV ) Positive pressure ventilation High-frequency ventilation

92. Bronchopulmonary dysplasia (BPD) Oxygen dependency at 36 weeks post conceptional age. This chronic lung disease is most common in premature babies who have been treated for respiratory distress syndrome (RDS). Babies with RDS have immature lungs. They sometimes need a mechanical ventilator to help them breathe. Some babies treated for RDS may develop symptoms of BPD, including fluid in the lungs, scarring, and lung damage.Babies with BPD are treated with medications to help make breathing easier. They're slowly weaned from the ventilator. Their lungs usually improve over the first two years of life, but some children develop a chronic lung disease resembling asthma.

93. Congenital Diaphragmatic Hernia Herniation of abdominal contents Profound respiratory distress 1 in 5,000 live births Left (70-85%) 40%�50% mortality Treatment :medical and surgical. CONGENITAL DIAPHRAGMATIC HERNIA Herniation of abdominal contents into the thoracic cavity - congenital or traumatic defect in the diaphragm. The defect may be at the esophageal hiatus (hiatal), adjacent to the hiatus (paraesophageal), retrosternal (Morgagni), or posterolateral (Bochdalek). Profound respiratory distress in the neonatal period Significant (40�50%) mortality. 1 in 5,000 live births to 1 in 2,000 if stillbirths are included Defects are more common on the left (70�85%) and are occasionally (5%) bilateral. Prenatal diagnosis by ultrasonography is common. After birth most infants with diaphragmatic hernia will experience severe respiratory collapse within the first 24hr. The absence of breath sounds and shift of heart sounds common to CDH and pneumothorax will be accompanied by a scaphoid abdomen in the infants with CDH. Chest roentgenogram is usually diagnostic (Fig). The lateral view frequently demonstrates the intestine passing through the posterior portion of the diaphragm. The availability of extracorporeal membrane oxygenation (ECMO) and the utility of preoperative stabilization have been the major stimuli to aggressive therapy. Image: Multiple rounded lucencies are projected over the left hemithorax and can be seen passing up from the abdomen. The naso-gastric tube demonstrates the intra-thoracic position of the stomach. There is mediastinal shift to the right. Appearances consistent with a left congenital diaphragmatic herniaCONGENITAL DIAPHRAGMATIC HERNIA Herniation of abdominal contents into the thoracic cavity - congenital or traumatic defect in the diaphragm. The defect may be at the esophageal hiatus (hiatal), adjacent to the hiatus (paraesophageal), retrosternal (Morgagni), or posterolateral (Bochdalek). Profound respiratory distress in the neonatal period Significant (40�50%) mortality. 1 in 5,000 live births to 1 in 2,000 if stillbirths are included Defects are more common on the left (70�85%) and are occasionally (5%) bilateral. Prenatal diagnosis by ultrasonography is common. After birth most infants with diaphragmatic hernia will experience severe respiratory collapse within the first 24hr. The absence of breath sounds and shift of heart sounds common to CDH and pneumothorax will be accompanied by a scaphoid abdomen in the infants with CDH. Chest roentgenogram is usually diagnostic (Fig). The lateral view frequently demonstrates the intestine passing through the posterior portion of the diaphragm. The availability of extracorporeal membrane oxygenation (ECMO) and the utility of preoperative stabilization have been the major stimuli to aggressive therapy. Image: Multiple rounded lucencies are projected over the left hemithorax and can be seen passing up from the abdomen. The naso-gastric tube demonstrates the intra-thoracic position of the stomach. There is mediastinal shift to the right. Appearances consistent with a left congenital diaphragmatic hernia

94. Posterior Urethral Valves Only in boys 1:8000 30% end-stage renal disease Maternal USS Small feeding tube inserted Cr (normal) � transurethral ablation Cr (high) � vesicostomy Long term antimicrobial prophylaxis POSTERIOR URETHRAL VALVES. The most common cause of severe obstructive uropathy in children is posterior urethral valves, occurring only in boys. This lesion occurs in approximately 1 in 8,000 boys. Urethral valve refers to tissue leaflets fanning distally from the prostatic urethra to the external urinary sphincter. Approximately 30% of patients experience end-stage renal disease or chronic renal insufficiency Vesicoureteral reflux occurs in 50% of patients and distal ureteral obstruction may result from a chronically distended bladder or bladder muscle hypertrophy. Maternal ultrasonography reveals bilateral hydronephrosis, a distended bladder and, if the obstruction is severe, oligohydramnios. Evidence of the possible benefits of fetal intervention is lacking (prenatal bladder decompression), and these procedures should be considered experimental In the male neonate, posterior urethral valves are suspected when there is a palpably distended bladder and the urinary stream is weak. In the healthy neonate, a small polyethylene feeding tube (No. 5 or 8 French) is inserted in the bladder and left for several days. Passing the feeding tube may be difficult, as the tip of the tube may coil in the prostatic urethra. A sign of this problem is that urine drains around the catheter rather than through it. A Foley (balloon) catheter should not be used, because the balloon may cause severe bladder spasms, which may produce severe ureteral obstruction If the serum creatinine level remains normal or returns to normal, treatment consists of transurethral ablation of the valve leaflets, which is performed endoscopically under general anesthesia. If the serum creatinine level remains high a vesicostomy should be performed Of those who survive the neonatal period, approximately 30% retain some degree of renal insufficiency and many eventually require renal transplantation Following valve ablation, antimicrobial prophylaxis is beneficial in preventing UTI, as hydronephrosis often persists to some degree for many years. POSTERIOR URETHRAL VALVES. The most common cause of severe obstructive uropathy in children is posterior urethral valves, occurring only in boys. This lesion occurs in approximately 1 in 8,000 boys. Urethral valve refers to tissue leaflets fanning distally from the prostatic urethra to the external urinary sphincter. Approximately 30% of patients experience end-stage renal disease or chronic renal insufficiency Vesicoureteral reflux occurs in 50% of patients and distal ureteral obstruction may result from a chronically distended bladder or bladder muscle hypertrophy. Maternal ultrasonography reveals bilateral hydronephrosis, a distended bladder and, if the obstruction is severe, oligohydramnios. Evidence of the possible benefits of fetal intervention is lacking (prenatal bladder decompression), and these procedures should be considered experimental In the male neonate, posterior urethral valves are suspected when there is a palpably distended bladder and the urinary stream is weak. In the healthy neonate, a small polyethylene feeding tube (No. 5 or 8 French) is inserted in the bladder and left for several days. Passing the feeding tube may be difficult, as the tip of the tube may coil in the prostatic urethra. A sign of this problem is that urine drains around the catheter rather than through it. A Foley (balloon) catheter should not be used, because the balloon may cause severe bladder spasms, which may produce severe ureteral obstruction If the serum creatinine level remains normal or returns to normal, treatment consists of transurethral ablation of the valve leaflets, which is performed endoscopically under general anesthesia. If the serum creatinine level remains high a vesicostomy should be performed Of those who survive the neonatal period, approximately 30% retain some degree of renal insufficiency and many eventually require renal transplantation Following valve ablation, antimicrobial prophylaxis is beneficial in preventing UTI, as hydronephrosis often persists to some degree for many years.

95. Gastroschisis Diagnosed antenatally Gastric decompression Risk of short bowel syndrome Unlike omphalocoele, gastroschisis is not usually associated with other congenital abnormalities GASTROSCHISIS: Most cases are now diagnosed ante-natally and delivery is planned in a centre with neonatal surgical expertise. Emergency management includes, gastric decompression with a large bore nasogastric tube, IV fluid replacement, wrapping with cling film to reduce water loss. Prior to surgery the baby should be nursed in a closed incubator rather than under an overhead heater to reduce water loss from evaporation. There is a risk of short bowel syndrome if the vascular supply has been compromised. Unlike omphalocoele, gastroschisis is not usually associated with other congenital abnormalities.GASTROSCHISIS: Most cases are now diagnosed ante-natally and delivery is planned in a centre with neonatal surgical expertise. Emergency management includes, gastric decompression with a large bore nasogastric tube, IV fluid replacement, wrapping with cling film to reduce water loss. Prior to surgery the baby should be nursed in a closed incubator rather than under an overhead heater to reduce water loss from evaporation. There is a risk of short bowel syndrome if the vascular supply has been compromised. Unlike omphalocoele, gastroschisis is not usually associated with other congenital abnormalities.

96. Congenital Omphalocoele Herniation of abdominal contents into the base of the umbilical cord Covered with peritoneum without overlying skin 1:5000 (herniation of intestines) Immediate surgical repair Associated with other congenital anomalies CONGENITAL OMPHALOCELE. An omphalocele is a herniation or protrusion of abdominal contents into the base of the umbilical cord. In contrast to the more common umbilical hernia, the sac is covered with peritoneum without overlying skin. The size of the sac that lies outside the abdominal cavity depends on its contents. Herniation of intestines into the cord occurs in about 1/5,000 births, and of liver and intestines in 1/10,000 births. The abdominal cavity is proportionately small because the impetus to grow and develop is deficient. Immediate surgical repair, before infection has taken place and before the tissues have been damaged by drying (saline-soaked sterile dressings should be applied immediately) or by rupture of the sac, is essential for survival. Mersilene or similar synthetic material may be used to cover the viscera if the sac has ruptured or if excessive mobilization of the skin would be necessary to cover the mass and its intact sac. Omphalocele, macrosomia, and hypoglycemia suggest Beckwith's syndrome CONGENITAL OMPHALOCELE. An omphalocele is a herniation or protrusion of abdominal contents into the base of the umbilical cord. In contrast to the more common umbilical hernia, the sac is covered with peritoneum without overlying skin. The size of the sac that lies outside the abdominal cavity depends on its contents. Herniation of intestines into the cord occurs in about 1/5,000 births, and of liver and intestines in 1/10,000 births. The abdominal cavity is proportionately small because the impetus to grow and develop is deficient. Immediate surgical repair, before infection has taken place and before the tissues have been damaged by drying (saline-soaked sterile dressings should be applied immediately) or by rupture of the sac, is essential for survival. Mersilene or similar synthetic material may be used to cover the viscera if the sac has ruptured or if excessive mobilization of the skin would be necessary to cover the mass and its intact sac. Omphalocele, macrosomia, and hypoglycemia suggest Beckwith's syndrome

97. Undescended testes Failure to find one or both testes in the scrotum 4.5% of boys have an undescended testis Undescended testes are usually in the inguinal canal Risk of malignancy is 4 to 10 times Orchidopexy UNDESCENDED AND RETRACTILE TESTES Failure to find one or both testes in the scrotum may indicate that the testis is undescended, absent, or retractile. At birth, approximately 4.5% of boys have an undescended testis. Because testicular descent occurs late in gestation, 30% of premature male babies have an undescended testis; the incidence is 3.4% at term. The majority of undescended testes descend spontaneously during the first 3 mo of life, and by 6 mo the incidence decreases to 0.8%. If the testis has not descended by 6 mo, it will remain undescended. Examination of the groin for an undescended testicle is often enhanced with the use of lubrication. (A) The examining hand is swept along the inguinal canal, starting at the superiolateral extent of the inguinal canal. If the testicle is present, it will either "pop" under the examiner's fingers (B,C), or be manipulated into the scrotum, where it will be palpated by the opposite hand (D). Cryptorchidism is bilateral in 10�20% of cases. Undescended testes are usually in the inguinal canal. Some boys have an ectopic testis, typically in the superficial inguinal pouch or perineum. Some testes are intra-abdominal; these are nonpalpable. In a newborn with bilateral nonpalpable testes, one should suspect that the child could be a virilized female with congenital adrenal hyperplasia. The risk of malignancy in the undescended testis is 4 to 10 times higher than that in the general population and is approximately 1 in 80 with a unilateral undescended testis and 1 in 40 to 1 in 50 for bilateral undescended testes. The peak age for this tumor is 15�45 yr. The most common tumor developing in an undescended testis is a seminoma (65%); in contrast, following orchiopexy, seminomas represent only 30% of testis tumors. Orchiopexy does not change the risk of cancer of the testis developing. Treatment of the undescended testis is recommended at 9�15 mo. Most testes can be brought down to the scrotum with an operation (orchiopexy). RETRACTILE: Retractile testes often are misdiagnosed as undescended testes. Boys older than 1 yr of age often have a brisk cremasteric reflex, and if the child is anxious or ticklish during scrotal examination, the testis may be difficult to manipulate into the scrotum. Boys should be examined with their legs in a relaxed frog-leg position, and if the testis can be manipulated into the scrotum comfortably, it is probably retractile. UNDESCENDED AND RETRACTILE TESTES Failure to find one or both testes in the scrotum may indicate that the testis is undescended, absent, or retractile. At birth, approximately 4.5% of boys have an undescended testis. Because testicular descent occurs late in gestation, 30% of premature male babies have an undescended testis; the incidence is 3.4% at term. The majority of undescended testes descend spontaneously during the first 3 mo of life, and by 6 mo the incidence decreases to 0.8%. If the testis has not descended by 6 mo, it will remain undescended. Examination of the groin for an undescended testicle is often enhanced with the use of lubrication. (A) The examining hand is swept along the inguinal canal, starting at the superiolateral extent of the inguinal canal. If the testicle is present, it will either "pop" under the examiner's fingers (B,C), or be manipulated into the scrotum, where it will be palpated by the opposite hand (D). Cryptorchidism is bilateral in 10�20% of cases. Undescended testes are usually in the inguinal canal. Some boys have an ectopic testis, typically in the superficial inguinal pouch or perineum. Some testes are intra-abdominal; these are nonpalpable. In a newborn with bilateral nonpalpable testes, one should suspect that the child could be a virilized female with congenital adrenal hyperplasia. The risk of malignancy in the undescended testis is 4 to 10 times higher than that in the general population and is approximately 1 in 80 with a unilateral undescended testis and 1 in 40 to 1 in 50 for bilateral undescended testes. The peak age for this tumor is 15�45 yr. The most common tumor developing in an undescended testis is a seminoma (65%); in contrast, following orchiopexy, seminomas represent only 30% of testis tumors. Orchiopexy does not change the risk of cancer of the testis developing. Treatment of the undescended testis is recommended at 9�15 mo. Most testes can be brought down to the scrotum with an operation (orchiopexy). RETRACTILE: Retractile testes often are misdiagnosed as undescended testes. Boys older than 1 yr of age often have a brisk cremasteric reflex, and if the child is anxious or ticklish during scrotal examination, the testis may be difficult to manipulate into the scrotum. Boys should be examined with their legs in a relaxed frog-leg position, and if the testis can be manipulated into the scrotum comfortably, it is probably retractile.

98. Hypospadias Urethra on ventral surface 1:250 males Associated chordee 10% undescended testes Glanular, coronal, subcoronal, midpenile, penoscrotal, scrotal and perineal Avoid circumcision Repair at age 6-12mo HYPOSPADIAS Hypospadias refers to a urethral opening that is on the ventral surface of the penile shaft and affects 1 in 250 male newborns. Some boys, particularly those with proximal hypospadias, have chordee, in which there is ventral penile curvature during erection. Hypospadias is classified according to the position of the urethral meatus after taking into account whether chordee is present The deformity is described as glanular (on the glans penis), coronal, subcoronal, midpenile, penoscrotal, scrotal, and perineal. Approximately 60% of cases are distal, 25% are subcoronal or midpenile, and 15% are proximal. Hypospadias usually is an isolated anomaly Testes are undescended in 10% of boys with hypospadias, and inguinal hernias are also common In the newborn, the differential diagnosis of proximal hypospadias with an undescended testis should include forms of ambiguous genitals, Complications of untreated hypospadias include (1) deformity of the urinary stream, either ventral deflection or severe splaying; (2) sexual dysfunction secondary to penile curvature; (3) infertility if the urethral meatus is proximal; and (4) meatal stenosis (congenital), which is extremely rare. The treatment begins in the newborn period. Circumcision should be avoided, as the foreskin is often essential for the repair. The ideal age for repair in a healthy infant is 6�12 mo.HYPOSPADIAS Hypospadias refers to a urethral opening that is on the ventral surface of the penile shaft and affects 1 in 250 male newborns. Some boys, particularly those with proximal hypospadias, have chordee, in which there is ventral penile curvature during erection. Hypospadias is classified according to the position of the urethral meatus after taking into account whether chordee is present The deformity is described as glanular (on the glans penis), coronal, subcoronal, midpenile, penoscrotal, scrotal, and perineal. Approximately 60% of cases are distal, 25% are subcoronal or midpenile, and 15% are proximal. Hypospadias usually is an isolated anomaly Testes are undescended in 10% of boys with hypospadias, and inguinal hernias are also common In the newborn, the differential diagnosis of proximal hypospadias with an undescended testis should include forms of ambiguous genitals, Complications of untreated hypospadias include (1) deformity of the urinary stream, either ventral deflection or severe splaying; (2) sexual dysfunction secondary to penile curvature; (3) infertility if the urethral meatus is proximal; and (4) meatal stenosis (congenital), which is extremely rare. The treatment begins in the newborn period. Circumcision should be avoided, as the foreskin is often essential for the repair. The ideal age for repair in a healthy infant is 6�12 mo.

99. Umbilical hernia Imperfect closure or weakness of the umbilical ring LBW, female Disappear spontaneously by 1 yr Strangulation rare Surgery if persisting to age 3-4 yr, symptomatic, strangulated, larger UMBILICAL HERNIA. Often associated with diastasis recti, umbilical hernia is due to an imperfect closure or weakness of the umbilical ring. Common especially in low birthweight, female, and black infants, it appears as a soft swelling covered by skin that protrudes during crying, coughing, or straining and can be reduced easily through the fibrous ring at the umbilicus. The hernia consists of omentum or portions of the small intestine. The size of the defect varies from less than 1 cm in diameter to as much as 5 cm, but large ones are rare. Treatment. Most umbilical hernias that appear before the age of 6 mo disappear spontaneously by 1 yr of age. Even large hernias (5�6 cm in all dimensions) have been known to disappear spontaneously by 5�6 yr of age. Strangulation is extremely rare. There is considerable agreement that �strapping� is ineffective. Surgery is not advised unless the hernia persists to the age of 3�4 yr, causes symptoms, becomes strangulated, or becomes progressively larger after the age of 1�2 yr. Defects exceeding 2 cm are less likely to close spontaneously.UMBILICAL HERNIA. Often associated with diastasis recti, umbilical hernia is due to an imperfect closure or weakness of the umbilical ring. Common especially in low birthweight, female, and black infants, it appears as a soft swelling covered by skin that protrudes during crying, coughing, or straining and can be reduced easily through the fibrous ring at the umbilicus. The hernia consists of omentum or portions of the small intestine. The size of the defect varies from less than 1 cm in diameter to as much as 5 cm, but large ones are rare. Treatment. Most umbilical hernias that appear before the age of 6 mo disappear spontaneously by 1 yr of age. Even large hernias (5�6 cm in all dimensions) have been known to disappear spontaneously by 5�6 yr of age. Strangulation is extremely rare. There is considerable agreement that �strapping� is ineffective. Surgery is not advised unless the hernia persists to the age of 3�4 yr, causes symptoms, becomes strangulated, or becomes progressively larger after the age of 1�2 yr. Defects exceeding 2 cm are less likely to close spontaneously.

100. Umbilical granuloma Normal umbilicus: dries 6-8 days, healed 12-15 days Mild infection Cleanse with alcohol Persistence of granulation tissue: cauterize with silver nitrate; repeat at intervals of several days until base is dry GRANULOMA. The umbilical cord usually dries and separates within 6�8 days after birth. The raw surface becomes covered by a thin layer of skin, scar tissue forms, and the wound is usually healed within 12�15 days. Mild infection may result in a moist granulating area at the base of the cord with a slight mucoid or mucopurulent discharge. Good results are usually obtained by cleansing with alcohol several times daily. Persistence of exuberant granulation tissue at the base of the umbilicus is common. The treatment is cauterization with silver nitrate; it should be repeated at intervals of several days until the base is dry.GRANULOMA. The umbilical cord usually dries and separates within 6�8 days after birth. The raw surface becomes covered by a thin layer of skin, scar tissue forms, and the wound is usually healed within 12�15 days. Mild infection may result in a moist granulating area at the base of the cord with a slight mucoid or mucopurulent discharge. Good results are usually obtained by cleansing with alcohol several times daily. Persistence of exuberant granulation tissue at the base of the umbilicus is common. The treatment is cauterization with silver nitrate; it should be repeated at intervals of several days until the base is dry.

101. Congenital hypothyroidism 1:4000 Developmental defects account for 90% Serum T4 low Oral thyroxine Congenital causes of hypothyroidism may be sporadic or familial, goitrous or nongoitrous. The prevalence of congenital hypothyroidism has been found to be 1/4,000 infants worldwide Developmental defects (thyroid dysgenesis) account for 90% of infants in whom hypothyroidism is detected Most infants with congenital hypothyroidism are asymptomatic at birth, even if there is complete agenesis of the thyroid gland. This situation is attributed to the transplacental passage of moderate amounts of maternal thyroxine (T4 ), which provides fetal levels that are 33% of normal at birth. Thyroid Dysgenesis Thyrotropin Receptor-Blocking Antibody Defective Synthesis of Thyroxine. Defect of Iodide Transport. Thyroid Peroxidase Defects of Organification and Coupling. Defects of Thyroglobulin Synthesis. Defects in Deiodination. Radioiodine. Thyrotropin Deficiency. Thyrotropin Hormone Unresponsiveness. Thyrotropin-Releasing Hormone Abnormality. Thyroid Hormone Unresponsiveness. Iodine Exposure. Iodine Deficiency�Endemic Goiter.  Birthweight and length are normal, but head size may be slightly increased because of myxedema of the brain. Prolongation of physiologic icterus, caused by delayed maturation of glucuronide conjugation, may be the earliest sign. Feeding difficulties, especially sluggishness, lack of interest, somnolence, and choking spells during nursing, are often present during the 1st mo of life. Respiratory difficulties, due in part to the large tongue, include apneic episodes, noisy respirations, and nasal obstruction. Typical respiratory distress syndrome may also occur. There may be constipation that does not usually respond to treatment. The abdomen is large, and an umbilical hernia is usually present. The temperature is subnormal, often less than 35�C (95�F), and the skin, particularly that of the extremities, may be cold and mottled. Edema of the genitals and extremities may be present. The pulse is slow, and heart murmurs, cardiomegaly, and asymptomatic pericardial effusion are common. Anemia is often present and is refractory to treatment with hematinics. Since symptoms appear gradually, the diagnosis is often delayed.  Serum levels of T4 are low; serum levels of T3 may be normal and are not helpful in the diagnosis. If the defect is primarily in the thyroid, levels of TSH are elevated, often to greater than 100 mU/L. Scintigraphy can help to pinpoint the underlying cause in infants with congenital hypothyroidism, but treatment should not be unduly delayed for this study. The electrocardiogram may show low-voltage P and T waves with diminished amplitude of QRS complexes and suggest poor left ventricular function and pericardial effusion. Sodium- L -thyroxine given orally is the treatment of choice. Congenital causes of hypothyroidism may be sporadic or familial, goitrous or nongoitrous. The prevalence of congenital hypothyroidism has been found to be 1/4,000 infants worldwide Developmental defects (thyroid dysgenesis) account for 90% of infants in whom hypothyroidism is detected Most infants with congenital hypothyroidism are asymptomatic at birth, even if there is complete agenesis of the thyroid gland. This situation is attributed to the transplacental passage of moderate amounts of maternal thyroxine (T4 ), which provides fetal levels that are 33% of normal at birth. Thyroid Dysgenesis Thyrotropin Receptor-Blocking Antibody Defective Synthesis of Thyroxine. Defect of Iodide Transport. Thyroid Peroxidase Defects of Organification and Coupling. Defects of Thyroglobulin Synthesis. Defects in Deiodination. Radioiodine. Thyrotropin Deficiency. Thyrotropin Hormone Unresponsiveness. Thyrotropin-Releasing Hormone Abnormality. Thyroid Hormone Unresponsiveness. Iodine Exposure. Iodine Deficiency�Endemic Goiter. Birthweight and length are normal, but head size may be slightly increased because of myxedema of the brain. Prolongation of physiologic icterus, caused by delayed maturation of glucuronide conjugation, may be the earliest sign. Feeding difficulties, especially sluggishness, lack of interest, somnolence, and choking spells during nursing, are often present during the 1st mo of life. Respiratory difficulties, due in part to the large tongue, include apneic episodes, noisy respirations, and nasal obstruction. Typical respiratory distress syndrome may also occur. There may be constipation that does not usually respond to treatment. The abdomen is large, and an umbilical hernia is usually present. The temperature is subnormal, often less than 35�C (95�F), and the skin, particularly that of the extremities, may be cold and mottled. Edema of the genitals and extremities may be present. The pulse is slow, and heart murmurs, cardiomegaly, and asymptomatic pericardial effusion are common. Anemia is often present and is refractory to treatment with hematinics. Since symptoms appear gradually, the diagnosis is often delayed.

102. PDA Ductus remains patent Term and preterm L to R shunt Small PDA � asymptomatic, ECG normal Large PDA � heart failure Risk of IE Medical or Surgical closure Bottom X-ray: Right anterior oblique view demonstrates the esophagus to be indented by a large left aortic arch in addition to posterior displacement by the dilated left atrium Top X-ray: A pulmonary arteriogram shows a filling defect in the pulmonary artery from the patent ductus piercing a round hole in the opacified pulmonary artery. Note also the subtle discrepancy of pulmonary flow between right and left lung which is commonly seen in patent ductus arteriosus and tetralogy of Fallot (reasons so far unexplained). Final diagnosis is patent ductus arteriosus, coarctation with bicuspid aortic valve PDA Ductus remains patent when pulmonary vascular resistance falls, aortic blood is shunted into the pulmonary artery. The aortic end of the ductus is just distal to the origin of the left subclavian artery, and the ductus enters the pulmonary artery at its bifurcation. Female patients with PDA outnumber males 2:1. PDA is also associated with maternal rubella infection during early pregnancy. It is a common problem in the premature infant, where it can cause severe hemodynamic derangements and several major sequelae Term infant is found to have PDA - wall of the ductus is deficient in both the mucoid endothelial layer and the muscular media; the premature infant, the patent ductus usually has a normal structural anatomy. Thus a PDA persisting beyond the 1st few weeks of life in a term infant rarely closes spontaneously or with pharmacologic intervention, whereas if early pharmacologic or surgical intervention is not required in the premature infant, spontaneous closure occurs in most instances As a result of the higher aortic pressure, blood shunts left to right through the ductus, from the aorta to the pulmonary artery. No symptoms associated with a small patent ductus. Large PDA will result in heart failure - in striking physical signs attributable to the wide pulse pressure, most prominently bounding arterial pulses. The apical impulse is prominent and, with cardiac enlargement, is heaving. A thrill, maximal in the 2nd left interspace, is often present and may radiate toward the left clavicle, down the left sternal border, or toward the apex. It is usually systolic but also may be palpated throughout the cardiac cycle. The classic continuous murmur has been variously described as being like machinery or rolling thunder in quality. Color and pulsed Doppler examination demonstrate systolic or diastolic (or both) retrograde turbulent flow in the pulmonary artery and aortic retrograde flow in diastole Cardiac catheterization demonstrates normal or increased pressures in the right ventricle and pulmonary artery, depending on the size of the ductus. The presence of oxygenated blood shunting into the pulmonary artery confirms a left-to-right shunt. Infective endarteritis may be seen at any age. Irrespective of age, patients with PDA require surgical or catheter closure. Bottom X-ray: Right anterior oblique view demonstrates the esophagus to be indented by a large left aortic arch in addition to posterior displacement by the dilated left atrium Top X-ray: A pulmonary arteriogram shows a filling defect in the pulmonary artery from the patent ductus piercing a round hole in the opacified pulmonary artery. Note also the subtle discrepancy of pulmonary flow between right and left lung which is commonly seen in patent ductus arteriosus and tetralogy of Fallot (reasons so far unexplained). Final diagnosis is patent ductus arteriosus, coarctation with bicuspid aortic valve PDA Ductus remains patent when pulmonary vascular resistance falls, aortic blood is shunted into the pulmonary artery. The aortic end of the ductus is just distal to the origin of the left subclavian artery, and the ductus enters the pulmonary artery at its bifurcation. Female patients with PDA outnumber males 2:1. PDA is also associated with maternal rubella infection during early pregnancy. It is a common problem in the premature infant, where it can cause severe hemodynamic derangements and several major sequelae Term infant is found to have PDA - wall of the ductus is deficient in both the mucoid endothelial layer and the muscular media; the premature infant, the patent ductus usually has a normal structural anatomy. Thus a PDA persisting beyond the 1st few weeks of life in a term infant rarely closes spontaneously or with pharmacologic intervention, whereas if early pharmacologic or surgical intervention is not required in the premature infant, spontaneous closure occurs in most instances As a result of the higher aortic pressure, blood shunts left to right through the ductus, from the aorta to the pulmonary artery. No symptoms associated with a small patent ductus. Large PDA will result in heart failure - in striking physical signs attributable to the wide pulse pressure, most prominently bounding arterial pulses. The apical impulse is prominent and, with cardiac enlargement, is heaving. A thrill, maximal in the 2nd left interspace, is often present and may radiate toward the left clavicle, down the left sternal border, or toward the apex. It is usually systolic but also may be palpated throughout the cardiac cycle. The classic continuous murmur has been variously described as being like machinery or rolling thunder in quality. Color and pulsed Doppler examination demonstrate systolic or diastolic (or both) retrograde turbulent flow in the pulmonary artery and aortic retrograde flow in diastole Cardiac catheterization demonstrates normal or increased pressures in the right ventricle and pulmonary artery, depending on the size of the ductus. The presence of oxygenated blood shunting into the pulmonary artery confirms a left-to-right shunt. Infective endarteritis may be seen at any age. Irrespective of age, patients with PDA require surgical or catheter closure.

103. Developmental Dysplasia of the Hip Hips at birth are dislocatable Typical and Teratologic Barlow test Beware hip clicks Ortolani and �clunk� Treatment: human position, closed reduction, open reduction Avascular necrosis DEVELOPMENTAL DYSPLASIA OF THE HIP Developmental dysplasia of the hip (DDH) usually occurs in the neonatal period. The hips at birth are rarely dislocated but rather �dislocatable.� Dislocations tend to occur after delivery and, thus, are postnatal in origin, although the exact time when dislocations occur is controversial. Typical, in a neurologically normal infant, and teratologic, in which there is an underlying neuromuscular disorder, such as myelodysplasia, arthrogryposis multiplex congenita, or a syndrome complex. Positive family history (20%) and the generalized ligamentous laxity are related factors. Approximately 60% of children with typical DDH are first borns, and 30�50% were in the breech position Barlow test is the most important maneuver in examining the newborn hip. This provocative test to dislocate an unstable hip is performed by stabilizing the pelvis with one hand and then flexing and adducting the opposite hip and applying a posterior force The Ortolani test is a maneuver to reduce a recently dislocated hip. A common concern is the presence of hip clicks in infants. Hip clicks per se are not usually pathologic and are secondary to (1) breaking the surface tension across the hip joint, (2) snapping of gluteal tendons, (3) patellofemoral motion, or (4) femorotibial (knee) rotation. If reduction is possible, the relocation will be felt as a �clunk,� not an audible �click.� Birth. When an unstable hip is recognized at birth, maintenance of the hip in the position of flexion and abduction (�human� position) for 1�2 mo is usually sufficient. Age 1�6 Months. During this age, a true dislocation may develop. As a consequence, treatment is directed toward reduction of the femoral head into the acetabulum. The Pavlik harness is the treatment of choice in this age group. Age 6�18 Months. In the older infant, surgical closed reduction is the major method of treatment. Age of 18 Months�8 Years. After 18 mo of age, the progressive deformities are so severe that open reduction followed by pelvic (innominate) osteotomy or femoral osteotomy, or both, are necessary to realign the hip. The most important and severe complication of DDH is avascular necrosis of the CFE. This is an iatrogenic complication; reduction of the femoral head under pressure produces cartilaginous compression, and this can result in occlusion of the intra-articular, extraosseous epiphyseal vessels and produce CFE infarction, either partial or total. Revascularization follows, but abnormal growth and development may occur, especially if the physis is severely damaged. The hip is vulnerable to this complication before the development of the ossific nucleus (4�6 mo). DEVELOPMENTAL DYSPLASIA OF THE HIP Developmental dysplasia of the hip (DDH) usually occurs in the neonatal period. The hips at birth are rarely dislocated but rather �dislocatable.� Dislocations tend to occur after delivery and, thus, are postnatal in origin, although the exact time when dislocations occur is controversial. Typical, in a neurologically normal infant, and teratologic, in which there is an underlying neuromuscular disorder, such as myelodysplasia, arthrogryposis multiplex congenita, or a syndrome complex. Positive family history (20%) and the generalized ligamentous laxity are related factors. Approximately 60% of children with typical DDH are first borns, and 30�50% were in the breech position Barlow test is the most important maneuver in examining the newborn hip. This provocative test to dislocate an unstable hip is performed by stabilizing the pelvis with one hand and then flexing and adducting the opposite hip and applying a posterior force The Ortolani test is a maneuver to reduce a recently dislocated hip. A common concern is the presence of hip clicks in infants. Hip clicks per se are not usually pathologic and are secondary to (1) breaking the surface tension across the hip joint, (2) snapping of gluteal tendons, (3) patellofemoral motion, or (4) femorotibial (knee) rotation. If reduction is possible, the relocation will be felt as a �clunk,� not an audible �click.� Birth. When an unstable hip is recognized at birth, maintenance of the hip in the position of flexion and abduction (�human� position) for 1�2 mo is usually sufficient. Age 1�6 Months. During this age, a true dislocation may develop. As a consequence, treatment is directed toward reduction of the femoral head into the acetabulum. The Pavlik harness is the treatment of choice in this age group. Age 6�18 Months. In the older infant, surgical closed reduction is the major method of treatment. Age of 18 Months�8 Years. After 18 mo of age, the progressive deformities are so severe that open reduction followed by pelvic (innominate) osteotomy or femoral osteotomy, or both, are necessary to realign the hip. The most important and severe complication of DDH is avascular necrosis of the CFE. This is an iatrogenic complication; reduction of the femoral head under pressure produces cartilaginous compression, and this can result in occlusion of the intra-articular, extraosseous epiphyseal vessels and produce CFE infarction, either partial or total. Revascularization follows, but abnormal growth and development may occur, especially if the physis is severely damaged. The hip is vulnerable to this complication before the development of the ossific nucleus (4�6 mo).

104. Retinopathy of prematurity Exclusively in preterm Retinal angiogenesis: 16 wk to 36 wk Abrupt termination of the vessels marked by a line in the retina Basic pathogenesis unknown Less than 1.5Kg and 28 wks Examination between 4 and 6 wk chronological age Cryotherapy or laser photocoagulation of avascular retina RETINOPATHY OF PREMATURITY (ROP) This retinal vasculopathy occurs almost exclusively in preterm infants Beginning at 16 wk of gestation, retinal angiogenesis normally proceeds from the optic disc to the periphery, reaching the outer rim of the retina (ora serrata) nasally at about 36 wk and extending temporally by approximately 40 wk. Rather than a gradual transition from vascularized to avascular retina, there is an abrupt termination of the vessels, marked by a line in the retina. The risk factors associated with ROP are not fully known, but prematurity and the associated retinal immaturity at birth represent the major factors. The basic pathogenesis of ROP is still unknown. Systematic ophthalmologic examination of infants at risk is recommended. Guidelines vary but generally include infants weighing less than 1,500 g at birth and those born before 28 wk gestational age. The initial examination should be performed between 4 and 6 wk of chronological age or at 31�33 wk postconceptional age In selected cases, cryotherapy or laser photocoagulation of the avascular retina reduces the more severe complications of progressive ROP. Prevention of ROP ultimately depends on prevention of premature birth RETINOPATHY OF PREMATURITY (ROP) This retinal vasculopathy occurs almost exclusively in preterm infants Beginning at 16 wk of gestation, retinal angiogenesis normally proceeds from the optic disc to the periphery, reaching the outer rim of the retina (ora serrata) nasally at about 36 wk and extending temporally by approximately 40 wk. Rather than a gradual transition from vascularized to avascular retina, there is an abrupt termination of the vessels, marked by a line in the retina. The risk factors associated with ROP are not fully known, but prematurity and the associated retinal immaturity at birth represent the major factors. The basic pathogenesis of ROP is still unknown. Systematic ophthalmologic examination of infants at risk is recommended. Guidelines vary but generally include infants weighing less than 1,500 g at birth and those born before 28 wk gestational age. The initial examination should be performed between 4 and 6 wk of chronological age or at 31�33 wk postconceptional age In selected cases, cryotherapy or laser photocoagulation of the avascular retina reduces the more severe complications of progressive ROP. Prevention of ROP ultimately depends on prevention of premature birth

105. Incidence 10 % of the infant develop stage 3 ROP. ROP account for up to 10 % of childhood blindness in developed countries. 20 % of premature infant will develop some form of strabismus or refractory error by the time of 3 years of age.

106. Classification

108. Treatment Ophthalmologist consultation is essential. Laser therapy. Cryotherapy: Was originally mode of treatment ( since 1970s ). Need general or topical anesthesia. Common complication: Intraocular hemorrhage. Conjuctival hematoma, laceration. Bradycardia.

109. Polydactyly Usually involves 5th toe 2:1000 live births 30% positive family history Associated anomalies Ligated at birth and allowed to autoamputate Save the digit with best axial alignment POLYDACTYLY Polydactyly is a relatively common deformity. It usually involves the 5th toe. It occurs in approximately 2 in 1,000 births. Approximately 30% of patients have a positive family history. It is important to assess for syndromes and other organ anomalies as well as other digit deformities such as polydactyly of the hand and syndactyly of adjacent toes. Duplication of the great toe is also possible. There may be associated metatarsal abnormalities. AP and lateral weight-bearing radiographs of both feet are obtained in the management of children with polydactyly. This demonstrates whether the duplication is articulated or rudimentary and whether there are metatarsal abnormalities. Treatment: ligated at birth and allowed to autoamputate The guidelines in polydactyly are to save the digit with best axial alignment, resect the projecting symptomatic toe, repair the capsule, balance the soft tissues, and shave any metatarsal prominences.POLYDACTYLY Polydactyly is a relatively common deformity. It usually involves the 5th toe. It occurs in approximately 2 in 1,000 births. Approximately 30% of patients have a positive family history. It is important to assess for syndromes and other organ anomalies as well as other digit deformities such as polydactyly of the hand and syndactyly of adjacent toes. Duplication of the great toe is also possible. There may be associated metatarsal abnormalities. AP and lateral weight-bearing radiographs of both feet are obtained in the management of children with polydactyly. This demonstrates whether the duplication is articulated or rudimentary and whether there are metatarsal abnormalities. Treatment: ligated at birth and allowed to autoamputate The guidelines in polydactyly are to save the digit with best axial alignment, resect the projecting symptomatic toe, repair the capsule, balance the soft tissues, and shave any metatarsal prominences.

110. Syndactyly Simple and complex ?Neurovascular bundle shared between digits Associated syndromes SYNDACTYLY Syndactyly also occurs in both simple and complex patterns. There should be concern about sharing of common important structures between the digits, such as the neurovascular bundle. There is also a tethering effect on the growth of the affected digits. Referral for delineation of specific disease and development of treatment strategies is indicated when the condition is recognized. Syndromes associated with syndactyly are presented.SYNDACTYLY Syndactyly also occurs in both simple and complex patterns. There should be concern about sharing of common important structures between the digits, such as the neurovascular bundle. There is also a tethering effect on the growth of the affected digits. Referral for delineation of specific disease and development of treatment strategies is indicated when the condition is recognized. Syndromes associated with syndactyly are presented.

111. Spina bifida Slide showing spina bifida Spina bifida occulta is commonest Defect involving L5 and S1 Midline defect of the vertebral bodies. Neurological deficit . Hydrocephalus. Infection. SPINA BIFIDA OCCULTA This common anomaly consists of a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Most individuals are asymptomatic and lack neurologic signs, and the condition is usually of no consequence. In some cases, patches of hair, a lipoma, discoloration of the skin, or a dermal sinus in the midline of the low back signifies an underlying spina bifida occulta. A spine roentgenogram shows a defect in closure of the posterior vertebral arches and laminae, typically involving L5 and S1. There is no abnormality of the meninges, spinal cord, or nerve roots. Spina bifida occulta is occasionally associated with more significant developmental abnormalities of the spinal cord, including syringomyelia, diastematomyelia, and a tethered cord. A dermoid sinus usually forms a small skin opening, which leads into a narrow duct, sometimes indicated by protruding hairs, a hairy patch, or a vascular nevus. Dermoid sinuses occur in the midline at the site of occurrence of meningoceles or encephaloceles, that is, the lumbosacral region or occiput. Dermoid sinus tracts may pass through the dura, acting as a conduit for the spread of infection. Recurrent meningitis of occult origin should prompt careful examination for a small sinus tract in the posterior midline region, including the back of the headSPINA BIFIDA OCCULTA This common anomaly consists of a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Most individuals are asymptomatic and lack neurologic signs, and the condition is usually of no consequence. In some cases, patches of hair, a lipoma, discoloration of the skin, or a dermal sinus in the midline of the low back signifies an underlying spina bifida occulta. A spine roentgenogram shows a defect in closure of the posterior vertebral arches and laminae, typically involving L5 and S1. There is no abnormality of the meninges, spinal cord, or nerve roots. Spina bifida occulta is occasionally associated with more significant developmental abnormalities of the spinal cord, including syringomyelia, diastematomyelia, and a tethered cord. A dermoid sinus usually forms a small skin opening, which leads into a narrow duct, sometimes indicated by protruding hairs, a hairy patch, or a vascular nevus. Dermoid sinuses occur in the midline at the site of occurrence of meningoceles or encephaloceles, that is, the lumbosacral region or occiput. Dermoid sinus tracts may pass through the dura, acting as a conduit for the spread of infection. Recurrent meningitis of occult origin should prompt careful examination for a small sinus tract in the posterior midline region, including the back of the head

112. Mongolian spots Blue or slate-gray macular lesions 80% of black, Asian and East Indian Less than 10% in whites Usually fade during first few years of life Malignant degeneration does not occur Appearance and congenital onset distinguish them from bruises of child abuse MONGOLIAN SPOTS. These blue or slate-gray macular lesions have variably defined margins; they occur most commonly in the presacral area but may be found over the posterior thighs, legs, back, and shoulders. They may be solitary or numerous and often involve large areas. More than 80% of black, Asian, and East Indian infants have these lesions, whereas the incidence in white infants is less than 10%. The peculiar hue of these macules is due to the dermal location of melanin-containing melanocytes that are presumed to have been arrested in their migration from neural crest to epidermis. Mongolian spots usually fade during the first few years of life but occasionally persist. Malignant degeneration does not occur. Widespread numerous lesions, particularly those in unusual sites, are unlikely to disappear. The characteristic appearance and congenital onset distinguish these spots from the bruises of child abuseMONGOLIAN SPOTS. These blue or slate-gray macular lesions have variably defined margins; they occur most commonly in the presacral area but may be found over the posterior thighs, legs, back, and shoulders. They may be solitary or numerous and often involve large areas. More than 80% of black, Asian, and East Indian infants have these lesions, whereas the incidence in white infants is less than 10%. The peculiar hue of these macules is due to the dermal location of melanin-containing melanocytes that are presumed to have been arrested in their migration from neural crest to epidermis. Mongolian spots usually fade during the first few years of life but occasionally persist. Malignant degeneration does not occur. Widespread numerous lesions, particularly those in unusual sites, are unlikely to disappear. The characteristic appearance and congenital onset distinguish these spots from the bruises of child abuse