Infancy&Childhood

8/3/2019 Infancy&Childhood

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DISEASESDISEASESOFOF

INFANCY AND CHILDHOODINFANCY AND CHILDHOOD

Dr. Ma. Carmen L. Cagampan


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Diseases of Infancy and Childhood:

1. Neonatal Period most hazardous period of life

2. Infancy 1st

year of life3. 1-4 years old

4. 5-14 years old

** Injuries leading cause of death for age ranges

1-4 y.o. and 5-14 y.o.


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Birth Weight and Gestational Age:

Pre-term infants higher morbidity and mortalityrates than term.

immature organs unable to adapt to

environment.

1. AGA appropriate for gestational age

those who fall between 10th and 90thpercentile

for a given gestational age.

2. LGA large for gestational age

3. SGA small for gestational age

Gestational Age:

1. Pre-term born before 37 or 38 weeks

2. Post-term or post mature born more than 42 weeks


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PREMATURITYPREMATURITY Second most common cause of neonatal mortality,

second only to congenital anomalies

Gestational age less than 37 weeks and less than2500gms

MAJOR RISKFACTORS FOR PREMATURITY:

1. PPROM --30-40% of preterm deliveries, single mostcommon identifiable cause of prematurity

2. Intra-uterine infections- 25% of cases of preterm births;Chorioamnionitis, Funisitis most common organismsinclude Ureaplasma urealyticum, Mycoplasma, G.vaginalis, Trichomonas, GC, and Chlamydia

3. Uterine cervical and placental structural abnormalities

4. Multiple gestation


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PREMATURITYPREMATURITYCOMPLICATIONS:

1. HMD

2. NEC

3. Sepsis

4. Intraventricular hemorrhage

5. Long term complications: developmental delay


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Fetal Growth Restriction (Intrauterine Growth Retardation):

- can be detected prior to delivery by ultrasound measurement

of fetal dimensions.

3 Factors ofFGR:1. Fetal intrinsic to fetus despite good nutrition from mother

chromosomal abnormalities

congenital anomalies congenital infections

2. Placental - Uteroplacental insufficiency:-placental abruptio, previa, thrombosis, infarction,

infection and multiple gestations

3. Maternal - most common factor to FGR- vascular diseases toxemia, chronic HPN

- maternal malnutrition

- narcotics abuse, smoking, ROH, drugs


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1. Lungs pre-term lungs thick alveoli with abundant inter- and

intralobular connective tissue

cuboidal lining of alveolar cells

blood vessels not directly in contactwith alveoli

start to mature at 7-8 months

morphology: red, meaty unexpanded with collapsed

alveolar walls; may contain amnioticdebris, squames and lanugo, mucous

as signs of distress.

Immaturity of organs:

- in pre-term and SGA infants


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A B

CA. Lungs at 22 weeks AOG

B. Lungs at 30 weeks AOGC. Lungs of full-term


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Top: Gross picture of immature lungs

with HMD and atelectasis

Right: Microscopic


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2. Kidneys: incomplete formation of glomeruli andprimitive glomeruli in subcapsularzone

- cuboidal lining of glomerular capillaries

3. Brain: smooth, lacks convolutions

- soft, tears easily, gelatinous

- white and gray matter not delineated

-poor temperature, vasomotor control,irregular respiration

4. Liver: foci of EMH

-patients develop jaundice due to inadequate biliaryexcretory function and breakdown of fetalRBC

- deficiency of glucoronyl transferase


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Top: Normal fetal kidneys

Right: Normal microscopicappearance of fetal

kidneys


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Gross and microscopic

picture of the brain at

18-22 weeks AOG


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Birth Injuries: commonly involve head, skeletal system,

liver, adrenals and peripheral nerves.1.Intracranial hemorrhage

-due to excessive molding of head or suddepressure changes in shape

- prolonge labor, hypoxia, hemorrhagic disorder,intracranial vascular anomalies predispositions

2.Caput Succedaneum- progressive accumulation of interstitial fluid i

the soft tissues of the scalp, cross suture lines

3.Cephalhematoma - hemorrhage into scalsubperiostally

4. Skull fractures - precipitate labor, misuse of forceps,

prolonged labor, CPD


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Caput succadaneum


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Cephalhematoma


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Intraventricular Hemorrhage


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Congenital Malformations: morphologic defects present at birth

Malformation primary error of morphogenesis

- intrinsic abnormalities occurring during

the dev. process

Deformation extrinsic disturbance of development;structural abnormality

Uterine constraint- most common underlying factor

Disruptions secondary destruction of organ that waspreviously normal in development

e.g. Amniotic bands

Multiple Congenital Anomalies - origin in a singlelocalized aberration in organogenesis is leading tosecondary effects in other organs

- a sequence


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Cause of Malformations: majority are unknown40-60%

A Genetic

1 Karyotypic aberrations present in 10-15% of live borninfants w/ CM

Downs Syndrome (Trisomy 21) - most common

cause in defects in gametogenesis

2 Single gene mutations follow mendelian patterns of

inheritance

- syndactyl, polydactyl

3. Multifactorial inheritance


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B. Environmental1. Viruses - Rubella syndrome in 1st trimester cancause deafness, cataracts, cong. heart diseases

- CMV in 2nd trimester; most common fetal

viral infection: MR, deafness, microcephaly,

hepatosplenomegaly

2. Drugs - thalidomide caused 50-80% of limbmalformations (phocomelia/amelia)

- alcohol growth retard, microcephaly, ASD,etc. fetal alcohol syndrome, maxillary

hypoplasia, short palpebral features

3. Radiation mutagenic/carcinogenic

4. Maternal DM- fetal macrosomia, cardiac anomalies, neural tube

defects and other CNS malformations (Diabetic embryopathy)


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Mechanisms of Malformations:

1 timing of insult has an impt. impact on the occurrence

and type of malformation-bet. the 3rd and 9th week AOG most susceptible

ot teratogenesis (4th-5th week)

2 teratogens and genetic defects may act at several levels

3. Morphogenesis genes alteration in genes especially in

transcriptionial regulation, e.g. Hox genes, retenoic acid


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PerinatalInfectionsPerinatalInfections1. Transcervical infections- Ascending

- at utero or during birth

e.g. Herpes simplex

Pneumonia, sepsis, meningitis

2. Transplacental infection- Hematologic

e.g. Parvovirus B19, TORCH infection- fever, encephalitis, chorioretinitis, skin

lesions


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SepsisSepsis1. Early onset- within first week of life

Grp B Streptococcus- most common

organism; Bacterial Meningitis

2. Late onset- 7 days to 3 months

Listeria and Candida


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Respiratory Distress Syndrome in NB: HMD

Causes:

1. excessive sedation of mother depress respiration in infant

2. brain injury respiratory centers

3. immaturity of the lungs4. aspiration of blood clot or amniotic fluid

5. asphyxation coils of umbilical cord

6. Unknown

Associations: -patient is usually pre-term AGA- infants of diabetic mothers- delivery by CS


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Etiology: immaturity of lungs

- incidence is inversely proportional to

gestational age

- fundamental defect is deficiency of

pulmonary surfactant

Surfactant reduces surface tension within alveoliso that less pressure is needed to keep the

alveoli open


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PREMATURITY

Reduced surfactant sythesis, storage, and release

Decreased alveolar surfactant

Increased Alveolar surface tension

Atelectasis

Uneeven V/Q Hypoventilation

Hypoxemia +CO2 retention

Acidosis

Pulmonary vasoconstriction

Pulmonary Hypoperfusion

Capillary endothelial damage

Alveolar epithelial damage

Plasma leak into alveoli

Increased diffusion

gradient

Fibrin + necrotic cells

(hyaline membrane)

Figure 10-10. Patholphysiology of RDS


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Morphology:

Lung solid, airless, liver-like, collapsed alveoli,pink hyaline membranes that line alveoli,bronchioles, ducts

- overall mortality is 20-30%

- prognosis depends on maturity of lung, BW andtherapy given

Complications: due to oxygen therapy/toxicity- retrolental fibroplasias, bronchopulmonary

dysplasia, PDA, IV hemorrhage, NEC.


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Immune Hydrops HDNB

- due to blood group incompatibility betweenmother and child

- when fetus inherits red cell Ag determinants

from the father that are foreign to themother

- maternal immune reaction may occur hemolysisin fetus

- leakage of fetal RBC into maternal circulationand transplacental passage of maternal Abto fetus


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Rh Ag System D Ag major cause of Rh

incompatibility

- 15% of whites Rh negative

- in Rh set-up, mother is always Rh negative

ABO Incompatibility most common cause of

EBF

- occurs in 20-25% of pregnancies


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Rh (-) Mother

Previously sensitized

to Rh antigen

by transfusion

or RH + fetus

Stimulate

antibody production

agains

Rh antigen

IgM

IgG

Antibody attachement to

Rh - erythrocytes

Removal and destruction

of erythrocyte-antibody

complex

Anemia Hemoglobin degradation

Bilirubin

Rh +

erythrocytes

Extramedullary

HematopoiesisCardiac

decompensation

Kernicterus

JaundiceHydrops

FETUS(WITH Rh + erythrocytes)

Figure 10-12. Pathogenesis of EBF

P L A C E N T A


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Non-Immune Hydrops

3 MAJOR CAUSES:

Cardiovascular defects

Chromosomal anomalies

Fetal anemia (alpha-Thalassemia)


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ERYTHROBLASTOSIS FETALIS


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Morphology:-jaundice/kernicterus

- Hepatosplenomegaly with EMH

-brain is enlarged, edematous with brightyellow pigmentation in basal ganglia,thalamus, cerebellum

- erythroid hyperplasia in marrow

- fluid in body cavities (anasarca)


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PhenylketonuriaPhenylketonuria

- Autosomal Recessive

- deficiency of Phenylalanine hydroxylase

- inability to convert PA to Tyrosine

- accumulation of by products

- mousy odor of urine / sweat

- SSx- MR, seizure, neurologic abnormalities,decreased pigmentation of hair and skin,eczema


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GalactosemiaGalactosemia

-Autosomal Recessive

-deficiency of Galactose-1-phosphate uridyl

transferase ( converts galactose to glucose)

-by products accumulate in liver, spleen, lens,

kidney, heart, brain, RBC

-SSx: hepatosplenomegaly, cataract, MR,vomiting and diarrhea


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Cystic Fibrosis (Mucoviscidosis)- common disorder in children and young adults,

1:200 live births- widespread disorder of mucus secreting andeccrine sweat glands leading to thickviscid secretions obstructing organ

passages

- common in whites autosomal recessive-primary defect is in regulation of epithelialchloride transport leading to decreasedreabsorption of NaCl from the lumen leads to increased sweat chloride

- CFTR: Cystic Fibrosis Transmembrane conductants

regulator gene on chromosome 7q31.2

- increased concentration of chloride in sweat


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Morphology:

- Pancreas: abnormality seen in 85-90% of patientsPlugged ducts, atrophic glands, fibrosis

impaired fat absorption

- Intestines: thick mucus plugs meconium ileus (in infants)

- Liver: Bile canaliculi with thick plugs biliary cirrhosis- Salivary glands: ductal dilation, sq. met of lining, glandularatrophy and fibrosis

- Lungs: most serious: thick mucu plugging with secondaryobstruction and infection of respiratory tree

chronic bronchitis, bronchiectasis- develop lung abscess by Staph and Pseudomonas

- Testes: obstruction of epididymis and vas deferens

- azoospermia/infertility


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Sudden Infant Death Syndrome (SIDS) crib death

- sudden death under1 year which is unexplainedafter thorough investigation including completeautopsy, examination of death scene, review ofclinical history

- 1-5 deaths/1000 live births

- 90% of deaths within 1st 6 months. Morphology:

- respiratory presence of infection but not lethal

- CNS gliosis

- CVS increase thickness of pulmonary vasculature, RVH,conduction system defects

- Hepatic EMH

- Adrenal increased brown fat and chromaffin cells


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FACTORS ASSOCIATED WITH SIDS

Young (younger than 20 y.o.)

Late or no prenatal care

Short intergestational intervals

Low socioeconomic group

Maternal Smoking

Drug abuse (e.g. methadone)

African American and American Indian

ethnicity (? socioeconomic)

PARENTAL INFANT

Brain stem abnormalities associated

defective arousal and

cardiorespiratory control

Prematurity/Low birth weight

Male Sex

Product of Multiple Birth

SIDS in prior sibling

Antecedent respiratory infections

? Gastroesophageal reflux

Table 10-8.


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FACTORS ASSOCIATEDWITH SIDS(contd)

ENVIRONMENTAL

Prone sleep position

Sleeping on a soft surface

Hyperthermia

Postnatal passive smoking

POSTMORTEM ABNORMALITIES DETECTEDPOSTMORTEM ABNORMALITIES DETECTED


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POSTMORTEMABNORMALITIES DETECTEDPOSTMORTEMABNORMALITIES DETECTED

INCASES OF SUDDENUNEXPECTEDINCASES OF SUDDENUNEXPECTED

INFANTDEATHINFANTDEATH

Infections

Viral myocarditis

Bronchopneumonia

Unsuspected congenital anomaly

Congenital aortic stenosis

Anomalous origin of the left coronary artery from the pulmonaryartery (ALCAPA)

Traumatic child abuse

Intentional suffocation (filicide)

Genetic and metabolic defects

Long QT syndrome (S

CN5A andK

CNQ1 mutations) Fatty acid oxidation disorders (MCAD, LCHAD, SCHAD

mutations

Histiocytoid cardiomyopathy (MTCYB mutations)

Abnormal inflammatory responsiveness (partial deletions in C4aand C4b)


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Tumors:Benign: must differentiate from hamartomas

Hemangiomas most common on face and scalp- may enlarge or regress

Lymphangiomas/Lymphagiectasis may enlarge andencroach on vital structures

Fibrous tumors (Fibromatosis) sparsely cellular tocellular proliferations of spindle shaped cells- varied biologic behavior

Teratomas mature cystic or immature solid (malignant)

- mostly in sacrococcygeal area, also in gonadsand mid-line locations

- 1 in 20,000-40,000 live births

- more in females than males

- associated with HF or polyhydramnios

- 75% mature (benign), 12% are malignant


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HEMANGIOMA


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LYMPHANGIOMA


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FIBROMATOS

IS


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SACROCOCCYGEAL TERATOMA


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Malignant Tumors:

Difference between childhood and adult neoplasms:1 incidence and type of tumor

2 demonstrate a close relationship between abnormal.

development & tumor induction

3 prevalence of underlying familial or genetic aberration

4 tendency of fetal & neonatal malignancies to

spontaneously regress or cytodifferentiate

5 improved survival rates possible development ofsecondary malignancies due to initial chemo-

or radiotheraphy


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CHILHOOD SITES

HEMATOPOIETIC SYSTEM

CNN (retina, adrenal medulla)

Soft tissue

Bone

Kidney

ADULT

SITE

SLung

Brest

Skin

Prostate

Colon

-childhood tumors morphologically are primitive looking

- collectively called small round blue cell tumors-include neuroblastomas, lymphomas,

rhabdomyosarcomas. ewings, Wilms.

NEUROBLASTIC TUMORSNEUROBLASTIC TUMORS


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NEUROBLASTICTUMORSNEUROBLASTICTUMORS

Neuroblastoma/Ganglioneuroma

- 15% of cancer deaths in children, 85-90% occur inchildren less than 5 y.o.

- occur sporadically, hereditary predisposition, asabdominal masses

- 25-25% arise in adrenal medulla most common),

also occur in symphatetic chain, paravertebral area- from minute nodules to large masses, may regress

spontaneously or mature to ganglioneuroma

- large tumors with soft, gray parenchyma with cysticor hemorrhagic and necrotic areas

- small dark cells with scent cytoplasm in solid sheets,rosette formation seen in which tumor cells

are arranged around a central fibrillar material

- may metastasize to various organs, locally invasive

- SSx: large abdominal mass, weight loss, fever


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Wilms Tumor:

- usually between 2-5 y.o., associated with 3 recognizable

groups of congenital malformations with defects inat least 2 distinct chromosomal loci.

-present as large, bubbly masses, solitary and wellcircumscribed

- soft, homogenous, tan to gray, with occasional foci of

hemorrhage and necrotic areas

-blastemal, stromal and epithelial cell types, abortivetubules and glomeruli

- w/ or w/o heterologous components

- SSx: hematuria, abdominal pain, inst. Obstruction, HPN- 90% long term survival with chemo, radiotherapy and

surgery


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