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Slide 1-

Diseases of Infancy & Childhood
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Diseases of Infancy and Childhood Congenital Anomalies Birth Weight and Gestational Age Birth Injuries Perinatal Infections Respiratory Distress Syndrome (RDS) Necrotizing Enterocolitis Intraventricular Hemorrhage Hydrops Inborn Metabolic/Genetic Errors Sudden Infant Death Syndrome (SIDS) Tumors
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INFANT MORTALITY USA 1970: 20 USA 2000: 7 USA WHITE: X USA BLACK: 2X SWEDEN 3 INDIA 82
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Major Time Spans Neonatal period first four weeks of life Infancy the first year of life Age 1 – 4 years (preschool) Age 5 – 14 years (school age)
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MORTALITY by TIME SPAN NEONATE (0-4 WEEKS): CONGENITAL, PREMATURITY UNDER ONE YEAR: CONGENITAL, PREMATURITY/WEIGHT, SIDS 1-4 YEARS: ACCIDENTS, CONGENITAL, TUMORS 5-14 YEARS: ACCIDENTS, TUMORS, HOMICIDES 15-24 YEARS: ACCIDENTS, HOMICIDE, SUICIDE (NONE ARE “NATURAL” CAUSES)
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1Rates are expressed per 100,000 population 2Excludes congenital heart disease
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Congenital Anomalies Definitions Causes Pathogenesis
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Malformations primary errors of morphogenesis, usually multifactorial e.g. congenital heart defect Disruptions secondary disruptions of previously normal organ or body region e.g. amniotic bands Deformations extrinsic disturbance of development by biomechanical forces e.g. uterine constraint Sequence a pattern of cascade anomalies explained by a single localized initiating event with secondary defects in other organs e.g. Oligohydramnios (Or Potter) Sequence Syndrome a constellation of developmental abnormalities believed to be pathologically related e.g Turner syndrome
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Malformations Polydactyly & syndactyly Cleft Lip Severe Lethal Malformation
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Disruption by an amniotic band
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Oligohydramnios (Or Potter) Sequence Oligohydramnios (decreased amniotic fluid) Renal agenesis Amniotic leak Fetal Compression flattened facies club foot (talipes equinovarus) Pulmonary hypoplasia fetal respiratory motions important for lung development Breech Presentation
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The Oligohydramnios “Sequence”
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Infant with oligohydramnios sequence
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Organ Specific Anomalies Agenesis: complete absence of an organ Atresia: absence of an opening Hypoplasia: incomplete development or under- development of an organ with decreased numbers of cells Hyperplasia: overdevelopment of an organ associated with increased numbers of cells Hypertrophy: increase in size with no change in number of cells Dysplasia: in the context of malformations (versus neoplasia) describes an abnormal organization of cells
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Implantation and the Survival of Early Pregnancy Only 50-60% of all conceptions advance beyond 20 weeks Implantation occurs at day 6-7 75% of loses are implantation failures and are not recognized Pregnancy loss after implantation is 25-40% NEJM 2001; 345:1400-1408
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#1 #2 #3
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CAUSES OF ANOMALIES Genetic karyotypic aberrations single gene mutations Environmental infection maternal disease drugs and chemicals irradiation Multifactorial Unknown
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Embryonic Development Embryonic period weeks 1- 8 of pregnancy organogenesis occurs in this period Fetal period weeks 9 to 38 marked by further growth and maturation
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Critical Periods Of Development
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Genetic Causes Karyotypic abnormalities 80-90% of fetuses with aneuploidy die in utero trisomy 21 (Down syndrome) most common karyotypic abnormality (21,18,13) sex chromosome abnormalities next most common (Turner and Klinefelter) autosomal chromosomal deletion usually lethal karyotyping frequently done with aborted fetuses with repeated abortions Single gene mutations covered in separate chapters
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Maternal Viral Infection Rubella (German measles) 1st TRIMESTER at risk period first 16 weeks gestation defects in lens (cataracts), heart, and CNS (deafness and mental retardation) rubella immune status important part of prenatal workup Cytomegalovirus 2nd TRIMESTER most common fetal infection highest at risk period is second trimester central nervous system infection predominates
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Drugs and Chemicals Drugs 13 cis-retinoic acid (acne agent) warfarin angiotensin converting enzyme inhibitors (ACEI) anticonvulsants oral diabetic agents thalidomide Alcohol Tobacco
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Teratogen Actions • Proper cell migration to predetermined locations that influence the development of other structures • Cell proliferation, which determines the size and form of embryonic organs • Cellular interactions among tissues derived from different structures (e.g., ectoderm, mesoderm), which affect the differentiation of one or both of these tissues • Cell-matrix associations, which affect growth and differentiation • Programmed cell death (apoptosis), which, as we have seen, allows orderly organization of tissues and organs during embryogenesis • Hormonal influences and mechanical forces, which affect morphogenesis at many levels
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Diabetes Mellitus Fetal Macrosomy (>10 pounds) maternal hyperglycemia increases insulin secretion by fetal pancreas, insulin acts with growth hormone effects Diabetic Embryopathy most crucial period is immediately post fertilization malformations increased 4-10 fold with uncontrolled diabetes, involving heart and CNS Oral agents not approved in pregnancy Diabetics attempting to conceive should be placed on insulin
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Birth Weight and Gestational Age Appropriate for gestational age (AGA) between 10 and 90th percentile for gestational age Small for gestational age (SGA) , <10% Large for gestational age (LGA) , >90% Preterm born before 37 weeks (<2500 grams) Post-Term delivered after 42 weeks
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Prematurity Defined as gestational age < 37 weeks Second most common cause of neonatal mortality (after congenital anomalies) Risk factors for prematurity Preterm Premature Rupture Of fetal Membranes (PROM) Intrauterine infection Uterine, cervical, and placental abnormalities Multiple gestation
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Fetal Growth Restriction At least 1/3 of infants born at term are < 2.5kg Undergrown rather than immature Commonly underlies SGA (small for gestational age) Prenatal diagnosis: ultrasound measurements Classification Fetal Placental Maternal
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Fetal FGR Chromosomal abnormalities 17% of FGR overall up to 66% of fetuses with ultrasound malformations Fetal Infection Infection: TORCH (Toxoplasmosis, Other, Rubella, Cytomegalovirus, Herpes) Characterized by symmetric growth restriction – head and trunk proportionally involved
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Placental FGR Vascular umbilical cord anomalies (single artery, constrictions, etc) thrombosis and infarction multiple gestation Confined placental mosaicism mutation in trophoblast trisomy is common Placental FGR tends to cause asymmetric growth with relative sparing of the head
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Maternal FGR Most common cause of FGR by far Vascular diseases preeclampsia (toxemia of pregnancy) hypertension Toxins ethanol narcotics and cocaine heavy smoking
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Organ Immaturity Lungs alveoli differentiate in 7th month surfactant deficiency Kidneys glomerular differentiation is incomplete Brain impaired homeostasis of temperature vasomotor control unstable Liver inability to conjugate and excrete bilirubin
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APGAR (Appearance, Pulse, Grimace, Activity, Respiration)
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Apgar Score and 28 Day Mortality Score may be evaluated at 1 and 5 minutes 5 minute scores 0-1, 50% mortality 4, 20% mortality ≥ 7, nearly 0% mortality
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Perinatal Infection Transcervical (ascending) inhalation of infected amniotic fluid pneumonia, sepsis, meningitis commonly occurs with PROM passage through infected birth canal herpes virus– caesarian section for active herpes Transplacental (hematogenous) mostly viral and parasitic HIV—at delivery with maternal to fetal transfusion TORCH-Toxo, Other, Rubella, Cmv, Herpes parvovirus B19 (Fifth), erythema infectiosum bacterial Listeria monocytogenes
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Fetal Lung Maturation
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Neonatal Respiratory Distress Syndrome (RDS) 60,000 cases / year in USA with 5000 deaths Incidence is inversely proportional to gestational age The cause is lung immaturity with decreased alveolar surfactant surfactant decreases surface tension first breath is the hardest since lungs must be expanded without surfactant, lungs collapse with each breath
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RDS Risk Factors 1) Prematurity by far the greatest risk factor affected infants are nearly always premature 2) Maternal diabetes mellitus insulin suppresses surfactant secretion 3) Cesarean delivery normal delivery process stimulates surfactant secretion
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RDS Pathology Gross solid and airless (no crepitance) sink in water appearance is similar to liver tissue* Microscopic atelectasis and dilation of alveoli hyaline membranes composed of fibrin and cell debris line alveoli (HMD former name) minimal inflammation
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V/Q Mismatch
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RDS Prevention and Treatment Delay labor until fetal lung is mature amniotic fluid phospholipid levels are useful in assessing fetal lung maturity Induce fetal lung maturation with antenatal corticosteriods Postnatal surfactant replacement therapy with oxygen and ventilator support
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Treatment Complications Oxygen toxicity oxygen derived free radicals damage tissue Retrolental fibroplasia hypoxia causes ↑ Vascular Endothelial Growth Factor (VEGF) and angiogenesis Oxygen Rx suppresses VEGF and causes endothelial apoptosis Bronchopulmonary “dysplasia” oxygen suppresses lung septation at the saccular stage mechanical ventilation epithelial hyperplasia, squamous metaplasia, and peribronchial and interstitial fibrosis were seen with old regimens of ventilator usage and no surfactant use, but are now uncommon lung septation is still impaired
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Necrotizing Enterocolitis Incidence is directly proportional to prematurity, like RDS approaches 10% with severe prematurity 2000 cases yearly in USA Pathogenesis not fully understood intestinal ischemia inflammatory mediators breakdown of mucosal barrier
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Necrotizing Enterocolitis
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Hydrops Fetalis Chromosomal abnormalities Turner syndrome with cystic hygromas other Cardiovascular with heart failure anemia with high output failure immune hemolytic anemia hereditary hemolytic anemia (α-thalassemia) parvovirus B19 infection twin to twin in utero transfusion congenital heart defects
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Hydrops Fetalis
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Immune Hydrops Fetus inherits red cell antigens from the father that are foreign to the mother Mother forms IgG antibodies which cross the placenta and destroy fetal RBCs Fetus develops severe anemia with CHF and compensatory ↑ hematopoiesis (frequently extramedullary) Most cases involve Rh D antigen mother is Rh Neg and fetus is Rh Pos ABO and other antigens involved less often
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Pathogenesis of Sensitization Fetal RBCs gain access to maternal circulation largely at delivery or upon abortion Since IgM antibodies are involved in primary response and prior sensitization is necessary, the first pregnancy is not usually affected Maternal sensitization can be prevented in most cases with Rh immune globulin (Rhogam) given at time of delivery or abortion (spontaneous or induced)
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Treatment of Immune Hydrops In utero identification of at risk infants via blood typing by amniocentesis, (Chorionic Villi Sampling) CVS, or fetal blood sampling fetal transfusions via umbilical cord early delivery Live born infant monitoring of hemoglobin and bilirubin exchange transfusions
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Kernicterus
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Pathogenesis of Immune Hydrops
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Inborn Errors of Metabolism (Genetic) PhenylKetonUria (PKU) Galactosemia Cystic Fibrosis (CF) (Mucoviscidosis)
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PHENYLKETONURIA (PKU) Ethnic distribution common in persons of Scandinavian descent uncommon in persons of African-American and Jewish descent Autosomal recessive Phenylalanine hydroxylase deficiency leads to hyperphenylalaninemia, brain damage, and mental retardation Phenylananine metabolites are excreted in the urine Treatment is phenylalanine restriction Variant forms exist
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GALACTOSEMIA Autosomal recessive Lactose → glucose + galactose Galactose-1-phosphate uridyl transferase (GALT) GALT is involved in the first step in the transformation of galactose to glucose absence of GALT activity → galactosemia Symptoms appear with milk ingestion liver (fatty change and fibrosis), lens of eye (cataracts), and brain damage involved (mechanism unknown) Diagnosis suggested by reducing sugar in urine and confirmed by GALT assay in tissue Treatment is removal of galactose from diet for at least the two first years of life
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Cystic Fibrosis Normal Gene Mutational Spectra Genetic/Environmental Modifiers Morphology Clinical Course
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Cystic Fibrosis (Mucoviscidosis) Autosomal recessive Most common lethal genetic disease affecting Caucasians (1 in 3,200 live births in the USA) 2-4% of population are carriers Uncommon in Asians and African-Americans Widespread disorder in epithelial chloride transport CFTR affecting fluid secretion in exocrine glands, (SWEAT) epithelial lining of the respiratory, gastrointestinal, and reproductive tracts Abnormally viscid mucus secretions
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Cellular Metabolism Of The Cystic Fibrosis Transmembrane Regulator (CFTR) Harrison’s Internal Med, 16th Ed
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CFTR Gene: Normal Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) CTFR → epithelial chloride channel protein agonist induced regulation of the chloride channel interacts with epithelial sodium channels (ENaC) Sweat gland CTFR activation increases luminal Cl− resorption ENaC increases Na+ resorption sweat is hypotonic Respiratory and Intestinal epithelium CTFR activation increases active luminal secretion of chloride ENaC is inhibited
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CFTR Gene: Cystic Fibrosis Sweat gland CTFR absence decreases luminal Cl− resorption ENaC decreases Na+ resorption sweat is hypertonic Respiratory and Intestinal epithelium CTFR absence decreases active luminal secretion of chloride lack of inhibition of ENaC is opens sodium channel with active resorption of luminal sodium secretions are decreased but isotonic
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Chloride Channel Defect and Effects
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CFTR Gene: Mutational Spectra More than 800 mutations are known These are grouped into six classes mild to severe Phenotype is correlated with the combination of these alleles correlation is best for pancreatic disease genotype-phenotype correlations are less consistent with pulmonary disease Other genes and environment further modify expression of CFTR
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Clinical Manifestations Of Mutations In The Cystic Fibrosis Gene
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Organ Pathology Plugging of ducts with viscous mucus and loss of ciliary function of respiratory mucosa Pancreas atrophy of exocrine pancreas with fibrosis islets are not affected Liver plugging of bile canaliculi with portal inflamation biliary cirrhosis may develop Genitalia Absence of vas deferens and azoospermia Sweat glands normal histology
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Lung Pathology in CF More than 95% of CF patients die of complications resulting from lung infection Viscous bronchial mucus with obstruction and secondary infection S. aureus Pseudomonas Hemophilus Bronchiectasis dilatation of bronchial lumina scarring of bronchial wall
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Cystic Fibrosis Clinical Manifestations
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CF Diagnosis Clinical criteria sinopulmonary gastrointestinal pancreatic intestinal salt loss male genital tract Sweat chloride analysis Nasal transepithelial potential difference DNA Analysis gene sequencing
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Clinical Course and Treatment Highly variable – median life expectance is 30 years 7% of patients in the United States are diagnosed as adults Clearing of pulmonary secretions and treatment of pulmonary infection Transplantation lung liver-pancreas
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Sudden Infant Death Syndrome (SIDS) Epidemiology Morphology Pathogenesis
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Sudden Infant Death Syndrome NIH Definition sudden death of an infant under 1 year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history “Crib” death another name based on the fact that most die in their sleep
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Epidemology of SIDS *Leading cause of death in USA of infants between 1 month and 1 year of age 90% of deaths occur ≤ 6 months age, mostly between 2 and 4 months In USA 2,600 deaths in 1999 (down from 5,000 in 1990)
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Risk Factors for SIDS Parental Young maternal age (age <20 years) Maternal smoking during pregnancy Drug abuse in either parent, specifically paternal marijuana and maternal opiate, cocaine use Short intergestational intervals Late or no prenatal care Low socioeconomic group African American and American Indian ethnicity (? socioeconomic factors) Infant Brain stem abnormalities, associated defective arousal, and cardiorespiratory control Prematurity and/or low birth weight Male sex Product of a multiple birth SIDS in a prior sibling Antecedent respiratory infections Environment Prone sleep position Sleeping on a soft surface Hyperthermia Postnatal passive smoking
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Morphology of SIDS SIDS is a diagnosis of exclusion Non-specific autopsy findings Multiple petechiae Pulmonary congestion ± pulmonary edema These may simply be agonal changes as they are found in non-SIDS deaths also Subtle changes in brain stem neurons Autopsy typically reveals no clear cause of death
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Pathogenesis of SIDS Generally accepted to be multifactorial Triple risk model Vulnerable infant Critical development period in homeostatic control Exogenous stressors Brain stem abnormalities, associated defective arousal, and cardio-respiratory control
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Prevention of SIDS Maternal factors attention to risk factors previously mentioned redress problems in medical care for underprivileged Environmental avoid prone sleeping back to sleep program: infant should sleep in supine position Avoid sleeping on soft surfaces no pillows, comforters, quilts, sheepskins, and stuffed toys Sleeping clothing (such as a sleep sack) may be used in place of blankets. Avoid hyperthermia no excessive blankets set thermostat to appropriate temperature avoid space heaters
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Diagnosis of SIDS SIDS is a diagnosis of exclusion Complete autopsy Examination of the death scene Review of the clinical history Differential diagnosis child abuse intentional suffocation
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TUMORS Benign Malignant
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BENIGN Hemangiomas Lymphatic Tumors Fibrous Tumors Teratomas (also can be malignant)
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Hemangioma Benign tumor of blood vessels Are the most common tumor of infancy Usually on skin, especially face and scalp Regress spontaneously in many cases
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Congenital Capillary Hemangioma At birth At 2 years After spontaneous regression
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Teratomas Composed of cells derived from more than one germ layer, usually all three Sacrococcygeal teratomas most common childhood teratoma frequency 1:20,000 to 1:40,000 live births 4 times more common in boys than girls Aproximately 12% are malignant often composed of immature tissue occur in older children
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Sacrococcygeal Teratoma
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MALIGNANT Neuroblastic Tumors Wilms Tumor Incidence and Types
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Small Round Blue Cell Tumors Frequent in pediatric tumors Differential diagnosis Lymphoma Neuroblastoma Wilms tumor Rhabdomyosarcoma Ewings tumor Diagnostic procedures immunoperoxidase stains electron microscopy chromosomal analysis and molecular markers
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Neuroblastomas Second most common malignancy of childhood (650 cases / year in USA) Neural crest origin adrenal gland, medulla, like a pheo – 40 % sympathetic ganglia – 60% In contrast to retinoblastoma, most are sporadic but familiar forms do occur Median age at diagnosis is 22 months
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Neuorblastoma Morphology Small round blue cell tumor neuorpil formation rosette formation immunochemistry – neuron specific enolase EM – secretory granules (catecholamine) Usual features of anaplasia high mitotic rate is unfavorable evidence of Schwann cell or ganglion differentiation favorable Other prognostic predictors are used by pathologists and oncologists
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Neuorblastoma *Neuropil **Homer-Wright Rosettes * **
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Clinical Course and Prognosis Hematogenous and lymphatic metastases to liver, lungs and bone 90% produce catecholamines, but hypertension is uncommon Age and stage are most important prognostically < 1 year age: good prognosis regardless of stage Amplification of N-myc oncogene present in 25-30% of cases and is unfavorable up to 300 copies on N-myc has been observed Risk Stratification low risk: 90% cure rate high risk 20% cure rate
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Wilms Tumor Most common primary renal tumor of childhood Incidence 10 per million children < 15 years Usually diagnosed between age 2-5 5 – 10 % are multi-focal, i.e., bilateral synchronous metachronous
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Clinical Features Most children present with a large abdominal mass Treatment nephrectomy and combination chemotherapy two year survival up to 90% even with spread beyond the kidney
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Pathogenesis of Wilms Tumor 10% of Wilms tumors arise in one of three congenital malformation syndromes with distinct chromosomal loci Familial disposition for Wilms is rare, and most of these patients have de novo mutations Nephrogenic rests of adjacent parenchyma present in 40% of unilateral tumors, 100% of bilateral tumors if found in one kidney, these rests predict an increased risk for tumor in the contralateral kidney
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Pathology of Wilms Tumor Gross well circumscribed fleshy tan tumor areas of hemorrhage and necrosis Microscopic: triphasic appearance Blastema: small blue cells Epithelial elements: tubules & glomeruli Stromal elements Anaplasia correlates with p53 mutation and poor prognosis and resistance to chemotherapy
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Wilms Tumor
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