2. DISEASES OF THE NEWBORN Belen Amparo E. Velasco, M.D.

4. BIRTH INJURIES INTRACRANIAL INJURIES SPINAL CORD INJURIES NERVE INJURIES

5. INTRACRANIAL INJURIES Most common site of fatal and disabling injury – intracranial cavity Preterm – more prone to hypoxic cerebral injury – spontaneous intraventricular hemorrhage Term infants – more prone to subdural hemorrhages which are traumatic in origin

6. INTRACRANIAL INJURIES CLINICAL MANIFESTATIONS: Nonspecific Most common: Respiratory distress Pallor Lethargy/somnolence with poor response to stimuli Hypo- or hyperreflexia Convulsions Signs of ICP Unequal pupils Tachy- or bradycardia

7. INTRACRANIAL INJURIES DIAGNOSIS: Clinical history/course Spinal taps (done in extreme caution) Cranial ultrasount vs CT scan of the head TREATMENT: Minimal handling Management of ICP – fluid restriction Furosemide paCO2 25-30 torr Thermoregulation Oxygen and ventilatory support, as warranted Anticonvulsant for siezure Vitamin K for coagulation defect

8. SPINAL CORD INJURIES Associated with difficult delivery Types of injury Complete transection – permanent paralysis Partial transection Cord compression – transient paralysis

9. NERVE INJURIES BRACHIAL PALSY FACIAL PARALYSIS DIAPHRAGMATIC PARALYSIS SCIATIC NERVE INJURY

10. BRACHIAL PALSY ERB-DUCHENNE PARALYSIS Injury to the 5 th -6 th crevical root Absent Moro on the affected side KLUMPKE’S PARALYSIS Injury to the 7 th cervical and 8 th thoracic root Loss of sensory and motor fxn of hand and wrist

11. BRACHIAL PALSY DIAPHRAGMATIC PARALYSIS Injury to 4 th cervical root HORNER’S SYNDROME Injury to the sympathetic ganglion Characterized by ptosis, enophthalmos, miosis, and anhydrosis of the face on the affected side

12. OTHER NERVE INJURIES FACIAL PALSY Injury to the 7 th nerve SCIATIC NERVE INJURY

13. CLAVICULAR FRACTURE Associated with difficult delivery esp shoulder dystocia

14. INTRAABDOMINAL INJURIES More common in breech deliveries Commonly ass with liver laceration and intraabdominal bleed

15. INFECTIONS OF THE NEWBORN INCIDENCE: 1-5 per 1000 livebirths PREDISPOSING FACTORS Prematurity Male gender Maternal infection Difficult delivery Congenital anomalies

16. INFECTIONS OF THE NEWBORN ROUTES OF ENTRY Hematogenous spread Ascending infection Direct contact along birth canal Breaks in the skin

17. INFECTIONS OF THE NEWBORN CHANGING SPECTRUM OF PREDOMINANT PATHOGENS EARLY ONSET SEPSIS 1930’s Grp A Strep Others:E.coli,Staph 1940’sE.coli Others:Streptococci 1950’sS. aureus Others:E.coli/Pseudo 1960’sE.coli Others:Pseudo/Kleb 1970’sGrp B Strep Others:E.coli/ Listeria 1980’sGrp B Strep up to E.coli present

18. LATE-ONSET SEPSIS 1970’s S. aureusOthers:Grp D Strep 1980’sCoagulase(-)Others: G(-) enteric Staph & Streptococci up to S. aureus Untypable H.influenzae Present LATE LATE-ONSET SEPSIS 1990’sCandida sp. Coagulase (-)Staph

19. INFECTIONS OF THE NEWBORN EARLY-ONSET VS LATE-ONSET VS LATE LATE-ONSET EARLY LATE LATE-LATE Onset 4 days > 30 days Incidence0.1-0.4% 5-25% - Transmission vertical vertical/ postnatal env. postnatal env. Clinical fulminant insiduous insiduous Sxspneumonia meningitis multisystem Morbidityneurologic prolonged prolonged handicap hospitalization hospitalization Mortality15-50% 10-15%

20. INFECTIONS OF THE NEWBORN DIAGNOSIS OF SEPSIS Clinical judgment Recovery of the organism from a meaningful site: Blood culture  UA vs UV specimens - The best alternative is still blood culture from a peripheral vein  Volume of blood – 0.5 ml should be adequate. Larger specimens will often grow faster  Single vs multiple blood cultures- With early onset sepsis, a single culture would suffice. With late- onset sepsis esp with possible CONS, at least two cultures should be obtained.

21. INFECTIONS OF THE NEWBORN TREATMENT MODALITIES AGAINST SEPSIS METHODS GENERALLY USED: Early Detection Fluids, nutrition, antibiotics, ventilatory support Catecholamines AGENTS POSTULATED TO IMPROVE OUTCOME OF SEPSIS: Antiserum to endotoxin Monoclonal antibodies to endotoxin

22. SPECIFIC INFECTIONS MENINGITIS PNEUMONIA DIARRHEA/NEC URINARY TRACT INFECTION ARTHRITIS CONJUNCTIVITIS

23. OTHER BACTERIAL INFECTIONS TETANUS NEONATORUM History of unhygienic cord practices Clinical diagnosis characterized by TRISMUS Prevention with tetanus immunization of the mother

24. OTHER BACTERIAL INFECTIONS CONGENITAL TUBERCULOSIS Ghons complex in the liver Diagnostics include: AFB smear of gastric aspirate Tuberculin test Placental pathologic exam

25. OTHER BACTERIAL INFECTIONS CONGENITAL SYPHILIS May occur with other STDs Characterized by jaundice, hepatosplenomegaly, macular rashes with wet desquamating skin teeming with spirochetes VDRL for screening. Confirmatory test FTA- ABS

26. NON-BACTERIAL INFECTIONS TORCHS TOXOPLASMOSIS CONGENITAL RUBELLA CYTOMEGALOVIRUS INFECTION HERPES SIMPLEX INFECTION

27. NON-BACTERIAL INFECTIONS OTHER VIRAL INFECTIONS: MUMPS HEPATITIS B AIDS

28. TREATMENT OF INFECTION SPECIFIC THERAPY: Ampicillin Gentamicin 3 rd generation Cephalosporin: SUPPORTIVE THERAPY Fluid resuscitation (crystalloids/colloids) Inotropes Nutritional support Immunotherapy

29. TREATMENT OF INFECTION SPECIFIC THERAPY: TETANUS: Penicillin, TIG, Anticonvulsant TUBERCULOSIS: INH, Rifampicin, PZA SYPHILIS: Penicillin TOXOPLASMOSIS: Spiramycin CYTOMEGALOVIRUS INFECTION: Ganciclovir HERPES SIMPLEX INFECTION/VARICELLA: Acyclovir HIV: Zimovudine

30. JAUNDICE IN THE NEWBORN BILIRUBIN METABOLISM biliverdinHemoglobinbilirubin Heme oxygenase C0Iron biliverdin reductase 1 mole of Hgb = 1 mole each of C0 & bilirubin Transport = bilirubin is transported to liver bound to serum albumin Uptake = nonpolar bilirubin (dissociated from albumin) crosses the hepatocyte plasma membrane, binds to cytoplasmic ligandin (Y protein) for transport to SER Note: Phenobarbital increases concentration of ligandin

31. CONJUGATION UCB SER UDPG-T (Pb) Bil. Mono glucuronide (CB) Bil. Diglu- curonide Bile canaliculi EXCRETION CB biliary tree GIT stool B-glucuronidase UCB (liver) Enterohepatic circ. BILIRUBIN METABOLISM

32. JAUNDICE  Color is due to accumulation in the skin of unconjugated, nonpolar, lipid-soluble bilirubin (indirect) formed from Hgb by heme oxygenase, biliverdin reductase, and nonenzymatic reducing agents in the RES

33. RISK FACTORS FOR HYPERBILIRUBINEMIA  History of previous sibling with hyperbilirubinemia  Decreasing gestational age  Breastfeeding  Large weight loss after birth

34. CAUSES OF HYPERBILIRUBINEMIA  Enhanced enterohepatic circulation due to:  High levels of intestinal B-glucuronidase   bilirubin monoglucuronide   intestinal bacteria   gut motility with poor evacuation of meconium

35. CAUSES OF HYPERBILIRUBINEMIA  Defective uptake of bilirubin from plasma   ligandin  Binding of ligandin by other anions  Defective conjugation due to  UDPG-T activity  Decreased hepatic excretion of bilirubin

36. PHYSIOLOGIC HYPERBILIRUBINEMIA  Onset of jaundice beyond 24 hours of age  Rise in TSB less then 0.5 mg/dL/hour or 5mg/dl/day  Peaks at 3-5 days  Resolves in a week  Levels not rising above 12mg/dl  No associated illness

37. NONPHYSIOLOGIC HYPERBILIRUBINEMIA  Onset of jaundice before 24 hours of age  Any elevation of TSB that requires phototherapy  Rise in TSB over 0.5 mg/dL/hour  Signs of underlying illness eg. vomiting, lethargy, poor feeding, excessive weight loss, apnea, tachypnea, T o instability  Jaundice persisting after 8 days in FT, 14 days in PT

38. PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA  PRODUCTION  Isoimmunizatioin: Rh, ABO, minor blood grps  Erythrocyte biochem. Defect: G6PD, pyruvate kinase, hexokinase, porphyria  Structural abnormalities of RBCs: hereditary spherocytosis, eliptocytosis

39. PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA  PRODUCTION  Infection: bacterial, viral, protozoal (mixed jaundice)  Sequestered blood: subdural hematoma, cephalhematoma, ecchymoses, hemangiomas  Others: IDM, obstructive jaundice, galactosemia, hemolysis (DIC, vit K deficiency)

40.  UPTAKE  Gilbert’s syndrome  hypothyroidism  galactosemia PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

41.  CONJUGATION  Crigler-Najjar syndromes (types I, II)  Transient familial neonatal hyperbilirubinemia  Galactosemia, hypothyroidism PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

42.  EXCRETION  Idiopathic neonatal hepatitis  Biliary atresia PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

43.  ENTEROHEPATIC CIRCULATION  Breastmilk jaundice (early, late onset)  Starvation  Pyloric stenosis  Intestinal obstruction PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

44. WORK-UP FOR JAUNDICE  Total serum bilirubin, B1, B2  Blood type, Rh, direct Coombs test of the infant  Blood type, Rh, antibody screen of the mother  Peripheral smear and reticulocyte count  Hct

45. WORK-UP FOR JAUNDICE  If direct Coombs + - antibody on infant’s RBC  G6PD screen, congenital hypothyroidism, metabolic defects (urine metabolic screen)  For neonatal cholestasis: Liver function test, TORCH assay, UTZ, liver biopsy

46. TREATMENT OF HYPERBILIRUBINEMIA  Phototherapy  Exchange Transfusion  Phenobarbital ?  Tin (Sn) protoporyhyrin or tin mesoporphyrin: inhibits conversion of biliverdin to bilirubin by heme oxgenase  Dose: single IM on D1 of life  Complications:transient erythema

47. TREATMENT OF CHOLESTASIS  Ursodeoxycholic acid 10mg/k/day  Kasai Procedure for biliary atresia

48. MANAGEMENT OF HYPERBILIRUBINEMIA IN THE HEALTHY TERM NEWBORN AGE HOURS CONSIDER PHOTOTHERAPY PHOTOTHERAPYEXCHANGE TRANSFUSION, IF INTENSIVE PHOTOTHERAPY FAILS EXCHANGE TRANSFUSION & INTENSIVE PHOTOTHERAPY <24………… 25- 48 >12>15>20>25 49- 72 >15>18>25>30 >72>17>20>25>30 Serum bilirubin = mg/dL

49. JAUNDICE IN PREMATURE INFANTS WEIGHT IN GRAMS PHOTOTHERAPYEXCHANGE TRANSFUSION < 1000 gms. Start within 24 hours 10-12 mg/dL 1000-1500 gm 7-9 mg/dL12-15 mg/dL 2000-2500 gm 13-15 mg/dL18-20 mg/dL

50. CLINICAL MANIFESTATIONS OF KERNICTERUS  Onset of symptoms: 2-5 d (FT), 7 d (PT)  Early phase: lethargy, poor feeding, loss of Moro reflex  Second phase: prostration, dec. DTRs, respiratory distress  Late phase: opisthotonus, bulging fontanel. Twitching of face & limbs, high-pitched cry  Advanced cases: convulsions, spasm, stiff extension of arms inward rotation with fists clenched

51. COMPLICATIONS OF KERNICTERUS  Cerebral palsy  Mental retardation  Seizure disorder  Behavioral problem  Dental dysplasia

52. RESPIRATORY DISTURBANCES STRIDOR Harsh sound produced by turbulent flow thru partially obstructed Ass with upper airway obstruction

53. RESPIRATORY DISTURBANCES STRIDOR CAUSES OF STRIDOR Choanal atresia Laryngomalacia Macroglossia Subglottic stenosis Neck masses

54. RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS SYNDROME Basic Pathology: Deficiency of pulmonary surfactant with subsequent lung collapse Immaturity of the chest wall

55. RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS SYNDROME Clinical Manifestations : Respiratory distress Anemia Hypotension Oliguria Hypotheramia

56. RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS SYNDROME DIAGNOSIS: Chest radiograph Ground-glass appearance Air bronchogram Lung opacity Arterial blood gas

57. RESPIRATORY DISTURBANCES RESPIRATORY DISTRESS SYNDROME Treatment: Oxygen therapy Correction of acidosis Surfactant Antibiotics Treatment of associated condition/complication

58. RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF THE NB Result of delayed absorption of fetal lung fluid seen during CS deliveries

59. RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF THE NB Characterized by respiratory distress during the first two – three days of life

60. RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF THE NB DIAGNOSIS : Chest radiograph Effusion along fissure lines Wet lung

61. RESPIRATORY DISTURBANCES TRANSIENT TACHYPNEA OF THE NB TREATMENT Oxygen therapy

62. RESPIRATORY DISTURBANCES APNEA CAUSES OF APNEA: Central apnea: IVH, sedation Obstructive apnea: RDS, pneumonia Mxed type: Sepsis, PDA

63. RESPIRATORY DISTURBANCES APNEA TREATMENT OF APNEA: Treat underlying cause Physical stimulation Positive pressure ventilation Aminophylline?

64. RESPIRATORY DISTURBANCES NEONATAL PNEUMONIA MECONIUM ASPIRATION

65. CARDIOVASCULAR DISTURBANCES CONTROL OF THE HEART RATE

66. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS Incidence: About 8 of every 1,000 babies in the U.S. are born with a congenital heart defect

67. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS COMMON ACYANOTIC ABNORMALITIES: Septal defect: Opening between right & left atrium or between right & left ventricle.

68. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS COMMON ACYANOTIC ABNORMALITIES: Patent ductus arteriosus: Fetal blood vessel that usually closes soon after birth remains open with oxygen-rich blood returning from the lungs pumped to the lungs again, placing extra strain on the right ventricle and on the blood vessels leading to and from the lung.

69. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS COMMON CYANOTIC ABNORMALITIES : Transposition of great arteries: exchange of role of the aorta and pulmonary artery

70. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS COMMON CYANOTIC ABNORMALITIES : Coarctation of the aorta: a portion of the aorta is abnormally narrow and unable to carry sufficient blood to the body, placing extra strain on the left ventricle with high blood pressure in the upper body and rupture of blood vessel in the brain

71. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS COMMON CYANOTIC ABNORMALITIES : Tetralogy of Fallot: a combination of four different heart malformations allows mixing of oxygenated and deoxygenated blood pumped by the heart.

72. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS Causes of Congenital Heart Defect: Genetic factors, Viral infections Exposure to certain chemicals

73. CARDIOVASCULAR DISTURBANCES CONGENITAL HEART DEFECTS Treatment: Surgical correction of the defect Patch made from pericardium or synthetic fabric for septal defect Ligation of ductus arteriosus Snipping out narrowed portion of the aorta while sewing the normal ends togetherin coarctation of the aorta, Corrective procedure for each part of the defect in Tetralogy of Fallot Note: Success rates are well above 90 percent, with treated children living healthy, normal lives.

74. CARDIOVASCULAR DISTURBANCES SHOCK HYPERTENSION RHYTHM DISTURBANCES

75. GASTROINTESTINAL DISTURBANCES NECROTISING ENTEROCOLITIES 4 Is: Ischemia Immaturity Infection Ingestion of milk

76. GASTROINTESTINAL DISTURBANCES NECROTISING ENTEROCOLITIS Clinical Manifestations: Non-specific Residual on feeding Abdominal distention Blood-streaked stools

77. GASTROINTESTINAL DISTURBANCES NECROTISING ENTEROCOLITIS Diagnosis: Abd xray: Pneumatosis intestinalis Fixed dilated loops Portal vein gas Liver UTZ: Hepatic microbubbles

78. GASTROINTESTINAL DISTURBANCES NECROTISING ENTEROCOLITIES Treatment: NPO Total Parenteral Nutrition Gastric decompression Antibiotics Surgical intervention, if indicated

79. HEMATOLOGIC DISTURBANCES ANEMIA CAUSES OF ANEMIA Hemolysis Acute blood loss Parenteral nutritional deficiency

80. HEMATOLOGIC DISTURBANCES ANEMIA TREATMENT OF ANEMIA Replacement of blood loss PRBC transfusion 10cc/k Treatment of underlying cause Vitamin K of HDN Vitamin E and Iron Erythropoietin Specific factor repolacement for hemophilia

81. HEMATOLOGIC DISTURBANCES POLYCYTHEMIA CAUSES OF POLYCYTHEMIA Placental dysfunction (SGA) Late cord clamping Feto-fetal/Maternofetal transfusion Adrenogenital syndrome IDM

82. HEMATOLOGIC DISTURBANCES POLYCYTHEMIA CLINICAL SXS OF POLYCYTHEMIA Lethargy with poor suck Cyanosis COMPLICATIONS Hyperbilirubinemia Venous thrombosis PPHN

83. HEMATOLOGIC DISTURBANCES POLYCYTHEMIA TREATMENT OF POLYCYTHEMIA Partial exchange transfusion

84. ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER May be asymptomatic Symptoms of hypoglycemia: Tremors Apnea Limpness Feeding difficulty High-pitched cry

85. ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER Associated conditions: Hyaline membrane disease Hypocalcemia Polycythemia Hyperbilirubinemia

86. ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER Associated anomalies: Septal hypertrophy Microcolon

87. ENDOCRINE DISORDERS INFANT OF DIABETIC MOTHER Treatment: 2cc/k D10Water Increase GIR Hydrocortisone

88. ENDOCRINE DISORDERS CONGENITAL HYPOTHYROIDISM Rarely obvious at birth FLK with large anterior fontanel, low nasal bridge, large tongue, umbilical hernia, and constipation May present as persistent jaundice

89. ENDOCRINE DISORDERS CONGENITAL HYPOTHYROIDISM Diagnosis: T4 and TSH Treatment: levo-Thyroxine 5-10mg/k/d

90. ENDOCRINE DISORDERS CONGENITAL ADRENAL HYPERPLASIA Usually present with ambiguous genitalia 75% may go into adrenal crisis – salt-losing type due to 21-hydroxylase deficiency

91. ENDOCRINE DISORDERS CONGENITAL ADRENAL HYPERPLASIA Diagnosis: Serum cortisol, pregnanelone Urinary 17ketosteroids Karyotyping Pelvic UTZ Treatment: Hydrocortisone