DISEASES OF INFANCY AND

CHILDHOOD

ANGEL R REYES JR, RMT, MD, FPSP, CHA, DipHLM

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
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)
 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)
 Cause of Death Related
with Age
Causes1 Rate 2
Under 1 Year: All 727.4
Causes
1–4 Years: All 32.6
Causes
5–14 Years: All 18.5
Causes
15–24 Years: All
1
80.7
Rates are expressed per 100,000 population

Causes
2Excludes congenital heart disease
Congenital Anomalies
•Definitions
•Causes
•Pathogenesis
• 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
 Malformations

Polydactyly & Cleft Lip Severe Lethal Malformation

syndactyly
Disruption by an amniotic band
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
The Oligohydramnios “Sequence”
Infant with oligohydramnios sequence
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
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

Approximate Frequency of the More Common Congenital “Malformations” in
the United States
Frequency per
10,000 Total
Malformation Births
Clubfoot without central nervous system anomalies 25.7
Patent ductus arteriosus 16.9
Ventricular septal defect 10.9
Cleft lip with or without cleft palate 9.1
Spina bifida without anencephalus 5.5
Congenital hydrocephalus without anencephalus 4.8
Anencephalus 3.9
Reduction deformity (musculoskeletal) 3.5
Rectal and intestinal atresia 3.4
Adapted from James LM: Maps of birth defects occurrence in the U.S., birth defects monitoring
program (BDMP)/CPHA, 1970–1987. Teratology 48:551, 1993.
 #
1
#2 #3
CAUSES OF ANOMALIES
Genetic
•karyotypic aberrations
•single gene mutations
•Environmental
•infection
•maternal disease
•drugs and chemicals
•irradiation
•Multifactorial
•Unknown
 Causes of Congenital Anomalies in Humans
Frequency
Cause (%)
Genetic
Chromosomal aberrations 10–15
Mendelian inheritance 2–10
Environmental
Maternal/placental infections 2–3
Maternal disease states 6–8
Drugs and chemicals 1
Irradiations 1
Multifactorial (Multiple Genes ? 20–25
Environment)
Unknown 40–60
Adapted from Stevenson RE, et al (eds): Human Malformations and Related Anomalies.
New York, Oxford University Press, 1993, p. 115.
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
Critical Periods Of Development
 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
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
Drugs and Chemicals
•Drugs
• 13 cis-retinoic acid (acne agent)
• warfarin
• angiotensin converting enzyme inhibitors (ACEI)
• anticonvulsants
• oral diabetic agents
• thalidomide
•Alcohol
•Tobacco
 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
 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
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

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
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
Fetal FGR
• Chromosomal abnormalities
• 17% of FGR overall
• up to 66% of fetuses with ultrasound malformations
• Fetal Infection
T
• Infection: TORCH ( oxoplasmosis, Other, Rubella,
Cytomegalovirus, Herpes)
• Characterized by symmetric growth restriction – head
and trunk proportionally involved
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
Maternal FGR
•Most common cause of FGR by far
•Vascular diseases
• preeclampsia (toxemia of pregnancy)
• hypertension
•Toxins
• ethanol
• narcotics and cocaine
• heavy smoking
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
APGAR (Appearance, Pulse, Grimace, Activity, Respiration)
Evaluation Of The Newborn Infant
Sign 0 1 2
Heart rate Absent Below 100 Over 100
Respiratory Absent Slow, irregular Good, crying
effort
Muscle tone Limp Some flexion of Active motion
extremities
Response to No Grimace Cough or
catheter in response sneeze
nostril (tested
after
oropharynx is
clear)
Color Blue, pale Body pink, Completely
extremities blue pink
Data from Apgar V: A proposal for a new method of evaluation of the
newborn infant. Anesth Analg 32:260, 1953.
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
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
Fetal Lung Maturation
 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
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
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
 V/Q
Mismatch
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
 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
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
Necrotizing Enterocolitis
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
Hydrops Fetalis
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
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)
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
Kernicterus
Pathogenesis of Immune Hydrops
Inborn Errors of Metabolism
(Genetic)
•PhenylKetonUria (PKU)
•Galactosemia
•Cystic Fibrosis (CF)
(Mucoviscidosis)
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
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
 Cystic Fibrosis
•Normal Gene
•Mutational Spectra
•Genetic/Environmental Modifiers
•Morphology
•Clinical Course
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
Cellular Metabolism Of The Cystic Fibrosis
Transmembrane Regulator (CFTR)
 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
 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
Chloride Channel Defect and Effects
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
Clinical Manifestations Of Mutations In The Cystic
Fibrosis Gene
 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
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
 Cystic Fibrosis
Clinical Manifestations
CF Diagnosis
• Clinical criteria
• sinopulmonary
• gastrointestinal
• pancreatic
• intestinal
• salt loss
• male genital tract
• Sweat chloride analysis
• Nasal transepithelial potential difference
• DNA Analysis
• gene sequencing
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
Sudden Infant Death Syndrome
(SIDS)

•Epidemiology
•Morphology
•Pathogenesis
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
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)
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
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
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
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
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
TUMORS
•Benign

•Malignant
BENIGN
•Hemangiomas
•Lymphatic Tumors
•Fibrous Tumors
•Teratomas (also can be
malignant)
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
Congenital Capillary Hemangioma

At birth At 2 years
After spontaneous regression
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
Sacrococcygeal Teratoma
MALIGNANT
•Neuroblastic Tumors
•Wilms Tumor
•Incidence and Types
 TABLE 10-9 -- Common Malignant Neoplasms of Infancy and Childhood
0 to 4 Years 5 to 9 Years 10 to 14 Years
Leukemia Leukemia
Retinoblastoma Retinoblastoma
Neuroblastoma Neuroblastoma
Wilms tumor
Hepatoblastoma Hepatocarcinoma Hepatocarcinoma
Soft tissue sarcoma (especially Soft tissue sarcoma Soft tissue sarcoma
rhabdomyosarcoma)
Teratomas
Central nervous system tumors Central nervous system
tumors
Ewing sarcoma
Lymphoma Osteogenic sarcoma
Thyroid carcinoma
Hodgkin disease
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
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
Neuorblastoma Morphology
• Small round blue cell tumor
•neuropil 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
 Neuorblastoma

**

*Neuropil **Homer-Wright Rosettes

 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
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
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
 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
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
Wilms Tumor