perinatal & diseases of infancy and childhoodperinatal & diseases of infancy and childhood...
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Perinatal & Diseases of infancy and childhood
La-or Chompuk, M.D.Department of Pathology and forensic MedicineFaculty of Medicine, Naresuan University
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• Terminology• Congenital Anomalies• Birth weight and
gestational age• Birth injuries• Perinatal infections• Neonatal Respiratory
Distress Syndrome• Necrotizing
enterocolitis
• Germinal matrix, intraventricular hemorrhage
• Fetal hydrops• Inborn errors of
metabolism and other genetic disorders
• Sudden infant death syndrome (SIDS)
• Tumors and tumor-like lesions
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- Embryonic period ; First 8 weeks of gestational age (GA)
- Fetus; 9 weeks of GA until birth
- Neonate; age 1-28 days- Infant; age under 1 year- Childhood; age 1-14 year
1. Terminology:
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- Premature baby ;birth weight < 2500 gm.or GA < 37 wks
- Postmature baby;GA > 42 wks
- Immature baby; birth weight < 1000 gm.
- Term pregnancy;
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- Dead fetus in utero;เด็กตายในทอง, detect ไดกอนคลอด
- Intrapartum death;ตายระหวางคลอด
- Still birth;เด็กคลอดออกมาไมมี vital signs
- Perinatal death;neonatal death + fetal death
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2.Congenital Anomalies
• Definition ; morphologic defects that are present at birth, but some have clinically apparent until years later (cardiac defects, renal anomalies).
• Major anomaly; anomaly having either cosmetic or functional significance.
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Terms used for various kinds of errors in morphogenesis :
• Malformations• Disruptions• Deformations• Sequence• Syndrome• Others; agenesis, aplasia, atresia,
hypoplasia, hyperplasia, hypertrophy, hypotrophy, dysplasia
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Malformations
• Primary errors of morphogenesis• Intrinsically abnormal developmental
process• Usually multifactorial factors• May involve single or multiple organ
systems• Such as; congenital heart defects,
anencephaly, agenesis of corpus callosum
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Anencephaly
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Agenesis of corpus callosum
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Disruptions
• Result from secondary destruction of an organ or body region that was previously normal in development.
• May be due to either external or internal interferences in morphogenesis
• Classic example; amniotic bands• Not heritable and not associated with risk
of recurrence in subsequent pregnancies.
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Deformations
• Pathogenesis; localized or generalized compression of the growing fetus by abnormal biomechanical forces, leading eventually to a variety of structural abnormalities.
• Extrinsic disturbance of development more than intrinsic error
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Deformation
• Most common underlying factor ; uterine constraint
• Maternal factors; first pregnancy, small uterus, malformed uterus, leiomyomas
• Fetal factors; oligohydramnios, multiple fetuses, abnormal fetal presentatiion.
• Such as; clubfeet, Potter sequence
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Club feet
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Sequence
• A series of multiple congenital anomalies resulting from a single localized aberration in organogenesis with secondary effects on other organs.
• The primary abnormality may be a malformation, deformation, or disruption.
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• Such as; renal agenesis or amniotic leakage
→ Oligohydramnios or Potter sequence:- flattened facies- positional abnormalities of hands and foot
- lung hypoplasia- amnion nodosum
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Amnion nodosum; nodules that consist of stratified squamous epithelium.
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Potter’s sequence
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Syndrome
• Several defects that cannot be readily explained on the basis of a single, localized initiating anomaly.
• Most often caused by a single etiologic agent; viral infection or specific chromosomal abnormality
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Agenesis; - complete absence of an organ and its
associated primordium.Aplasia;
- absence of an organ due to failure of the developmental anlage
Atresia;- absence of an opening, usually of a
hollow visceral organ; trachea, intestine.
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Hypoplasia;- incomplete development or
underdevelopment of an organ with decreased numbers of cells.
Hyperplasia;- overdevelopment of an organ
associated with increased numbers of cells
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Hypothrophy;- decrease in organ size or function
related to a decrease in cell sizeHypertrophy;
- increase in organ size or function related to a increase in cell size
Dysplasia;- in context of malformations, describes an
abnormal organization of cells
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Causes of Congenital anomalies
• Genetic Causes• Environmental Causes• Multifactorial Causes
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Genetic causes• Karyotypic abnormalities;
- 10-15% of live-born infants with congenital abnormalities- most cytogenetic aberrations arise as defects in gametogenesis
* Trisomy 21, * Klinefelter syndrome (47,XXY),* Turner syndrome (45, XO), * Patau syndrome (trisomy 13)
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Trisomy 18
(Edward syndrome), Clench hand
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Trisomy 13
(Patau syndrome)
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Turner syndrome (45,XO)
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• Single gene mutations;- relatively uncommon but follow mendelian patterns of inheritance- holoprocencephaly, syndactyly, polydactyly
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Holoprocencephaly (severe alobar form)
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Syndactyly
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• Multifactorial inheritance; - two or more genes of small effect with environmental factors.- such as; cleft lip and palate, neural tube defects, and congenital hip dislocation.
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Neural tube defect
Craniorhachichisis
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Cleft lip and cleft palate
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Environmental causes
• Viruses;- rubella, cytomegalic inclusion
disease, HSV, VZV, influenza, mumps, HIV, enterovirus
- with all viruses, the GA at which the infection occurs in the mother is critically important.
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Rubella:- The at-risk period for rubella infection extends from shortly before conception to the 16th week of gestation.
- The hazard being greater in the first 8 weeks than in the second 8 weeks.
- The incidence of malformations is reduced from 50% to 20% to 7% if infection occurs in the 1st, 2nd, or 3rd month of gestation.
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Rubella embryopathy: major tetrad comprises- cataracts- heart defects (persistent ductus arteriosus, pulmonary artery hypoplasia or stenosis, ventricular septal defect, tetralogy of Fallot)- deafness- mental retardation
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Intrauterine cytomegalovirus infection:
- is the most common fetal viral infection- the highest at-risk period is the second trimester of pregnancy.- involvement of the central nervous system is a major feature; mental retardation, microcephaly, deafness, and hepatosplenomegaly
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• Drugs and other chemicals:- teratogenic agents;
thalidomide, folate antagonists, androgenic hormones, alcohol, anticonvulsants,warfarin, 13-cis-retinoic acid
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Fetal alcohol syndrome:- growth retardation- microcephaly- atrial septal defect- short palpebral
fissures- maxillary
hypoplasia
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• Cigarette smoking;- has not been convincingly
demonstrated to be a teratogen- high incidence of spontaneous
abortions, premature labor, placental abnormalities
- low birth weight, may be prone to sudden infant death syndrome
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• Radiation;– Radiation is mutagenic, carcinogenic, and
teratogenic– Exposure to heavy doses during
organogenesis can result in such defects as microcephaly, blindness, skull defects and spina bifida
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• Maternal diabetes;- maternal hyperglycemia-induced fetal
hyperinsulinemia causes increased body fat, muscle mass and organomegaly, cardiac anomalies, neural tube defects and other CNS malformations.
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3. Birth weight and gestational age
BIRTH WEIGHT • Appropriate for gestational age (AGA);
10th to 90th percentiles• Small for gestational age (SGA);
below 10th percentiles• Large for gestational age (LGA);
above 90th percentiles
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PREMATURITY
• Birth before 37 weeks of gestational age• Second most common cause of neonatal
mortality
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• Risk for prematurity – 30-40%; Premature rupture of placental
membrane (PROM)– 25%; Intrauterine infection, chorioamnionitis,
funisitis; Ureaplasma urealyticum, Mycoplasma hominis, Gardnerella vaginalis, Trichomonas, gonorrhea, Chlamydia
– Uterine or placental structural abnormalities– Multiple gestation (twin pregnancy)
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• Complication of prematurity
– Hyaline membrane disease (respiratory distress syndrome)
– Necrotizing enterocolitis (NEC) – Sepsis – Intraventricular hemorrhage (germinal matrix
hemorrhage) – Developmental delay
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Fetal growth restriction (FGR)
• Small for gestational age• Three main factors:
1. Fetal2. Placental3. Maternal (most common)
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Fetal:- chromosomal disorders; trisomy 13,18,21- congenital anomalies- congenital infections; TORCH group
toxoplasmosis, rubella, cytomegalovirus, herpesvirus, other viruses or bacteria e.g. syphilis
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Placental:- abruptio placentae- placenta previa- placental thrombosis and infarctions- placental infections- umbilical-placental vascular
anomalies- multiple gestations
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Abruptio placenta
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Prolapsed cord
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Maternal:- underlying mechanism is decreased
blood flow to the placenta- causative factors; toxemia of
pregnancy, hypertension, nutritional status, narcotic or alcohol intake, heavy cigarette smoking, drugs
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APGAR SCORE :
• A measure of the physiologic condition and responsiveness of the newborn infant
• Evaluated at 1, 5 and 10 minutes • Predict perinatal morbidity and mortality• The higher the score, the better the outlook
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Sign 0 1 2A : Appearance
(color)
Blue, pale Body pink, extremities blue
Completely pink
P : Pulse(heart rate)
Absent <100/min >100/min
G : Grimace (response to catheter in nostril)
No response Grimace Cough or sneeze
A : Activity (muscle tone)
Limp Some flexion of extremities
Active motion
R : Respiration Absent Slow, irregular Good, crying
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• 10 infant in best possible condition • 5-minute APGAR score
0-1 50% mortality rate2-4 20% mortality rate>7 0% mortality rate
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4. BIRTH INJURYIntracranial hemorrhage• Most common important birth injury • Related excessive molding of head or
sudden pressure change• Predisposing factors
– Prolonged labor– Hypoxia– Hemorrhagic disorder– Intracranial vascular anomalies
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Caput succedaneum & Cephalhematoma
• Caput succedaneum – Accumulation of interstitial fluid in the soft
tissue of the scalp
• Cephalhematoma– Hemorrhage in the subperiosteal tissue – 25% associate with skull fracture
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Caput Succedanum Cephalhematoma
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Cerebral palsy (CP)
• Cerebral Palsy is caused by damage to the developing brain, usually occurring before, during or shortly after birth.
• Brain damage can also occur during infancy due to infection or trauma.
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Perinatal Asphyxia• Severe hypotensive or hypovolemic event
which the fetus suffer, usually around the time of birth
• Disruption of oxygen delivery to the fetus can originate in: – Umbilical cord knot or prolapse of the cord – Placenta abruption – Mother systemic circulation preeclampsia – Obstetrical difficult delivery
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True knot
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Nuchal cord
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• Multiple organ are affected1. Widespread marked congestion
and hemorrhage 2. Ischemic necrosis of various
organs
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5. Perinatal infections
Transcervical (Ascending) infections;• Cervicovaginal route• Most bacteria and some virus
– Herpes simplex virus type II – Escherichia coli– Group B Streptococcus (GBS)
• Chorioamnionitis, funisitis• Most common sequenlae; pneumonia,
sepsis, meningitis
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Group B Streptococcus• Most common cause of neonatal sepsis • Early onset usually occur within the first few
hours after deliveryPneumoniaRespiratory distress syndrome Shock
• The mortality averages ~ 50% • Death : within 24 hours.
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• Risk factor to predispose to infection – Premature labor – Prolonged rupture of membranes – Heavy maternal colonization – Obstetrical complications
• The presence of group B Streptococci in the mother does not predict severe neonatal infection
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• Transplacental (hematologic) infections;– Most parasites and viral infections– Enter the fetal bloodstream via chorionic villi– May occur any time during gestation– Sequelae are highly variable, depending on
the gestational timing and microorganism
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• TORCH infection T Toxoplasma gondiiO Other (Syphilis)R Rubella virusC CytomegalovirusH Herpes simplex virus type II
HIV
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Multiorgan involvement • Encephalitis growth and mental
retardation• Chorioretinitis cataract and blindness• Hepatosplenomegaly • Pneumonitis • Myocarditis and congenital cardiac defect• Bone defect
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Cytomegalic inclusion disease• Cytomegalovirus • Most common transplacental infection • Multiorgan involvement
– Intrauterine growth retardation low birth weight
– Hepatosplenomegaly– Microcephaly cerebral impairment
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6. Neonatal Respiratory Distress Syndrome (RDS)
• Most common cause of respiratory distress in the newborn
• Also known as Hyaline membrane disease • Formation of membrane in the alveoli• Almost always occur in preterm
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Etiology and pathogenesis:- occur in the immature lung- caused by a deficiency of the pulmonary surfactant synthesized by Type II pneumocytes- Type II pneumocytes are most abundant after 35 wk’s gestation.- incidence of RDS is 60% in infant GA < 28 wks, < 5% in GA < 37%
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• Morphology of lungs;
– Gross: solid, airless, reddish purple– Microscopic: poorly developed alveoli,
collapsed alveoli, proteinaceous “membranes”line respiratory bronchioles, alveolar ducts and random alveoli
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Respiratory distress syndrome
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• Clinical presentation:-Typical infant with RDS is preterm with AGA- RDS is associated with * maternal diabetes (surfactant synthesis is suppressed by high insulin levels) * cesarean section delivery
• Assessment of fetal surfactant synthesis:- Before delivery: Amniotic fluid phospholipids
(lecithin/sphingomyelin ratio)
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• Treatment:Before delivery:
- Corticosteroids; prevent RDS by inducing formation of surfactant lipids and apoprotein in fetal lung
After delivery:– Surfactant replacement– Oxygen therapy
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• Uncomplicated case; recovery begins in 3 to 4 days
• But infants are risk for developing retinopathy of prematurity (ROP) and bronchopulmonary dysplasia (BPD),both due to high-concentration oxygen therapy
• Other complications of prematurity; patent ductus arteriosus, IVH, NEC
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7. Necrotizing Enterocolitis (NEC)
• Spontaneous bowel ischemia• Clinical features
– Bloody stool – Abdominal distension – Absent bowel sound
• Sites: terminal ileum, cecum, and right –sided colon
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Abdominal radiographs:- gas within the intestinal wall (pneumatosis intestinalis)
Microscopic: mucosal or transmural coagulative necrosis, ulceration, bacterial colonization, and submucosal gas bubbles.
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NEC
• Treatment ;– Early NEC;
conservative treatment
– 20-60% resection of necrotic bowel segment
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Necrotizing Enterocolitis (NEC)
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8. Germinal matrix, intraventricular hemorrhage
• Germinal matrix : subependymal tissue • Severe complication of prematuiry • Typical in less than 32-33 weeks of
gestation • Rare in mature infant
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Clinical features• Small hemorrhage
Asymptomatic• Large hemorrhage
Tense frontanelle
SeizureAnemia,
cyanosis Apnea
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9. Fetal Hydrops
• Generalized edema of the fetus• Fluid accumulation during intrauterine
growth• Immune and non-immune hydrops
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Hydrops fetalis
• Immune hydrops– Hemolytic disease in the newborn
caused by blood-group incompatibility between mother and child
– ABO, Rh blood gr.
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• Nonimmune hydrops Three major causes
Cardiovascular defectChromosomal anomalies; trisomy 18,21
Fetal anemia unrelated to immune hemolysis
Homozygous α-thalassemia Most common in SEA
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Twin-twin transfusion syndrome
Left- excessive blood volume
Right- deficient blood volume
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Hydrops fetalis
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10. Inborn errors of metabolism and other genetic disorders
• Phenylketonuria• Galactosemia• Cystic Fibrosis
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Phenylketonuria (PKU)
• Dietary phenylalanine;– 50% required for protein synthesis– Remainder is converted into tyrosine by the
phenylalanine hydroxylase system
• Mutation of phenylalanine hydroxylase gene >>> variable enzymatic deficiencies >>> elevated phenylalanine
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Phenylketonuria
• Classic PKU; Scandinavian • Clinical features:
– Normal at birth– Rising plasma phenylalanine within the first
few weeks of life– Impaired brain development and mental
retardation
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Galactosemia
• Lactose (milk) >>> glucose + galactose• Galactose >>>> glucose; three enzymes• Autosomal recessive• Mutation of galactose-1-phosphate
uridyl transferase (GALT)• Accumulate galactose-1-phosphate
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• Clinical features;– Fail to thrive– Present with vomiting and diarrhea after milk
ingesion– Liver – hepatomegaly, cirrhosis– Eyes – cataracts– Brain – nonspecific alteration; mental
retardation
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Cystic fibrosis (CF)
• Most common lethal genetic disease affecting whites.
• Affect epithelial chloride ion transport• Abnormal fluid secretion in exocrine
glands and in respiratory, gastrointestinal, and reproductive mucosa
• CF gene; CFTR (cystic fibrosis transmembrane conductance regulator) protein, cms 7q31.2
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Morphology
• Pancrease; atrophy of exocrine pancrease >>> impaired absorption; avitaminosis A
• Intestine; meconium ileus >>> bowel obstruction
• Liver; diffuse hepatic cirrhosis• Salivary gland; glandular atrophy• Male genital tract; azoospermia and
infertility
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• Lungs; superimposed infection and pulmonary abscess; – Three most common organisms:
Staphylocoocus areus, Haemophillus influenzae, Pseudomonas aeruginosa
– Burkholderia cepacia is associated with fulminant illness
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Cystic Fibrosis
• Clinical course;– Malabsorption– Cardiorespiratory complications: chronic
cough, persistent lung infection, obstructive pulmonary disease, cor pulmonaleare the most common cause death
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11. Sudden infant death syndrome (SIDS)
• National Institute of Clinical Health and Human Development:
• “ sudden death of an infant less than 1 year of age, that remains unexplained after thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history”
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SIDS
• Most SIDS deaths occur between 2 and 4 months of life
• Infant usually dies while asleep, without evidence of distress or struggle.
• Pathogenesis; poorly understood, multifactorial disorders
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• Potential risk factors;– Infant sleeping prone– Prematurity and low birth weight– SIDS in prior sibling– Young maternal age– Short intergestational interval– Inadequate prenatal care– Low socioeconomic status– Maternal smoking and drug abuse
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12. Tumor and Tumor-like Lesions
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TUMOR-LIKE LESION
• Heterotopia (choristoma)Normal cells or normal tissue present in
abnormal locationectopic pancreas
• HamartomaFocal and excessive over-growth of
cells or tissue native to the organ in which it occurs.
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BENIGN TUMOR
Hemangioma• Most common tumor of infancy• Most are cutaneous; face, scalp• Flat-to-elevated, irregular, red-blue
mass • Commonly spontaneous regress
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Hemangioma
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A: Congenital capillary hemangioma
B: Age 2 yrs, after spontaneous regression
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Sturge-Weber syndrome "Port Wine Nevus"
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• Lymphangiomas:– skin, neck, axilla, mediastinum,
retroperitoneum– Clinically significant if they encroach on vital
structures– Histology; cystic and cavernous lymphatic
spaces.
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Lymphangioma
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Teratoma
• Neoplasm made up from different type of tissue
• Most common teratoma of childhood sacrococcygeal teratoma
• Two peak incidence; age 2 and late adolescence
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Sacrococcygeal teratoma
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MALIGNANT TUMORS
• Malignant tumors of infancy differs from those of adulthood
Incidence and type of tumorsUnderlying familial or genetic aberrationTendency to regress spontaneously or
cytodifferentiate
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• Incidence of malignant tumor in children 1. Leukemia & lymphoma (principally
acute lymphoblastic leukemia)2. CNS tumors3. Neuroblastoma 4. Sarcoma rhabdomyosarcoma5. Wilm’s tumor 6. Bone tumors Ewing sarcoma 7. Retinoblastoma
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Leukemia• Most common malignancy in children • Acute lymphoblastic leukemia (ALL)
most common type of leukemia– 2-6 years– Anemia – Thrombocytopenia petechiae, purpura– Hepatomegaly– Splenomegaly – Lymphadenopathy
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Neuroblastoma• Second most common solid
malignancy of childhood (after CNS tumors)
• Most common intra-abdominal solid malignancy in childhood
• 40% arise in adrenal gland • Remainder sympathetic chain
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• Clinical features – Large abdominal mass– Metastasis Bone, lymph node, liver
• 90% of neuroblastoma produce catecholamines
• Elevated blood or urine catecholamine metabolites are important diagnostic features.
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• Urine Vanillymandelic acid (VMA); test for pheochromocytoma, ganglioneuroma, neuroblastoma
• Histology:- sheets of small round blue cells- Homer-Wright pseudorosettes- Variable differentiation; schwannian stroma
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Wilm’s tumor
• Most common primary renal tumor of childhood; usually age 2-5 yr.
• Second commonest intra-abdominal malignancy of childhood
• Poorly-differentiated renal tumor arising from embryonic metanephric blastema
• Clinical features abdominal mass
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Wilms tumor
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• Prognosis:– Histologic anaplasia (large cell,
hyperchromatic, pleomorphic nuclei and abnormal mitoses) ; worse prognosis
• Treatment:– Chemotherapy; excellent prognosis
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Retinoblastoma
Leukokoria