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MOD Exam 2 > Diseases of infancy and childhood > Flashcards

Diseases of infancy and childhood Flashcards

1
Q

Why are diseases that originate in the perinatal period of importance?

A

They have significant morbidity and mortality

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2
Q

What ethnicity has infant mortality rates more than twice that of caucasian americans?

A

African americans

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3
Q

What are the leading causes of death in infants within the first 12 months of life?

A

Congenital anomalies

Disorders releating to prematurity and low birth weight

Sudden infant death syndrome (SIDS)

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4
Q

Common causes of death in children between the ages of 1 and 4 y/o

A

Unintentional accidents

COngenital malformation, deformations, chromosomal abnormalities

Assault (homicide)

Malignant neoplasms

Diseases of the heart

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5
Q

Common causes of death in children between 5 and 9 y/o

A

Accidents

Malignant neoplasms

congenital malformations, deformations, chromosomal abnl

Assault (homicide)

Influenza and PNA

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6
Q

Common causes of death in children between 10 and 14 y/o

A

Accidents

Malignant neoplasms

Intentional self-harm (suicide)

Assault (homicide)

Congenital malformations, deformations, chromosomal abnormalities

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7
Q

What is the most common cause of mortality in the first year of life?

A

Congenital anomalies

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8
Q

Malformations represent primary errors of morphogenesis, what is the cause of most malformations?

A

They can be a result of a single gene or chromosome defect, but are more commonly multifactorial

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9
Q

Disruptions are extrinsic disturbances in morphogenesis resulting from

A

secondary destruction of an organ or body region that was previously normal in development

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10
Q

Define morphogenesis

A

Organ and tissue development

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11
Q

Deformations are another example of extrinsic disruption of morphogenesis, what is fundamental to the pathogenesis of deformations?

A

localized or general compression of the growing fetus by abnormal mechanical forces, leading to a variety of structural abnormalities

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12
Q

A sequence is a cascade of abnormalities triggered by what?

A

One initiating abberation

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13
Q

How does a malformation syndrome differ from a sequence?

A

Malformation syndromes are a constellation of congenital anomalies, but unlike a sequence, it cannot be explained by the basis of a single initiating defect/aberration

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14
Q

define agenesis

A

the complete absence of an organ and its associated primordium

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15
Q

Define aplasia

A

Absence of an organ d/t the failure of existing primordium growth

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16
Q

Define atresia

A

the absence of an opening, usually of a hollow organ (trachea, intestine)

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17
Q

Define dysplasia

A

Abnormal organization of cells

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18
Q

What are the three major categories of causes of congenital anomalies?

A

Genetic

Environmental

Multifactorial

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19
Q

What are the common genetic causes of congenital anomalies and what are their frequencies?

A

Chromosomal aberrations (10-15%)

Mendelian inheritance (2-10%)

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20
Q

What are the common environmental causes of congenital anomalies and what are their frequencies?

A

Maternal/placental infections (rubella, toxoplamosis, syphilis): 2-3%

Maternal disease states (DM, PKU, endocrinopathies): 6-8%

Drugs and chemicals (thalidomide, alcohol, folic acid antagonists): 1%

Multifactorial: 20-25%

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21
Q

What are the two general principles affecting the pathogenesis of congenital anomalies?

A

Timing of the prenatal teratogenic insult

Interplay between environmental teratogens and intrinsic genetic defects

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22
Q

Define prematurity

A

Gestational age less than 37 weeks

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23
Q

What is the second most common cause of infant mortality, behind congenital anomalies?

A

Prematurity

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24
Q

Major risk factors for prematurity

A

Preterm premature rupture of placental membranes

Intrauterine infection

Uterine, cervical, placental structural abnormalities

Multiple gestation

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25
Q

What is the major cause of preterm labor?

A

Intrauterine infection

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26
Q

Histologically, what is seen with intrauterine infection?

A

inflammation of placental membranes (chorioamnionitis)

Inflammation of the umbilical cord (funisitis)

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27
Q

What are the common microorganisms implicated in intrauterine infection?

A

Ureaplasma urealyticum

Mycoplasma hominis

Gardnerella vaginalis

Trichomonas

Chlamydia

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28
Q

What is the concept behind fetal growth restriction?

A

infants born at term that weight less than 2500g are considered to be undergrown, rather than immature and are small-for-gestational-age (SGA) infants

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29
Q

What should be considered in all infants with fetal growth restriction?

A

Fetal infection, commonly caused by the TORCH group of infections (toxoplasmosis, rubella, cytomegalovirus, herpesvirus)

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30
Q

Placental causes of fetal growth restritction result in

A

asymmetric growth retardation of the fetus

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31
Q

What are the most common maternal abnormalities leading to FGR?

A

Preeclampsia

HTN

Thrombophilias

Hypercoagulability

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32
Q

SGA infants have a significant risk for morbidity in what forms?

A

Major handicap

cerebral dysfunction

learning disability

hearing or visual impairment

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33
Q

What is the most common cause of respiratory distress in infants?

A

Respiratory distress syndrome aka hyaline membrane disease

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34
Q

What is the most important cause of the development of RDS?

A

Immaturity of the lungs

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35
Q

What is the fundamental defect in RDS?

A

Deficiency in surfactant

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36
Q

What cell type produces surfactant?

A

Type II pneumocytes

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37
Q

What is the role of surfactant in a normal lung?

A

Lines alveoli, reducing surface tension; thus, less pressure is required to keep the alveoli open for aeration

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38
Q

The lack of surfactant in infants with RDS results in?

A

Progressive lung atelectasis resulting in deposition of protein and fibrin-rich exudation in the alveolar spaces, causing a deficiency in gas exchange and difficulty breathing

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39
Q

The role of what is important in the synthesis of surfactant?

A

Glucocorticoids

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40
Q

What morphologic changes are seen in RDS/hyaline membrane disease?

A

Lungs are solid, airless and reddish purple; they sink in water

Microscopically, alveoli are poorly developed, necrotic cellular debris is seen in terminal bronchioles and alveolar ducts, eosinophilic hyaline membranes

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41
Q

Clinical findings in untreated infants with RDS

A

Preterm though appropriate weight for gestational age

Dyspnea

Cyanosis

Rales over both lung fields

Ground glass picture on CXR

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42
Q

In neonates affected by RDS, oxygen is often required. What are the complications of high concentration oxygen delivery by ventillation?

A

Retrolental fibroplasia

Bronchoplumonary dysplasia

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43
Q

Infants who recover from RDS are at an increased risk for developing what conditions?

A

PDA

Intraventricular hemorrhage

Necrotizing enterocolitis

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44
Q

Premature infants with necrotizing enterocolitis have stool and serum samples with higher levels of what mediator?

A

Platelet activating factor

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45
Q

Clinical course of necrotizing enterocolitis?

A

Bloody stools

Abd distension

Development of circulatory collapse

Abd radiography shows gas within intestinal walls

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46
Q

Morphological changes seen in necrotizing enterocolitis

A

Involved segment, usually the terminal ileum, cecum or right colon, is distended, friable and congested.

Mucosal coagulative necrosis is seen microscopically

Granulation tissue and fibrosis can be seen after an acute episode

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47
Q

Necrotizing enterocolitis is associated with high mortality, those that survive often develop

A

Strictures from fibrosis during the healing process

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48
Q

Fetal and perinatal infetcions are acquired through two routes, what are they?

A

Transcervical (ascending)

Transplacental (hematologic)

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49
Q

How does a fetus acquire an infection transcervically?

A

By inhaling infected amniotic fluid into the lungs or by passing through an infected birth canal

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50
Q

Most common sequelae of fetus’ infected by inhaled amniotic fluid

A

PNA

Sepsis

Meningitis

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51
Q

The TORCH group of infections (Toxoplasmosis, Other, Rubella, CMV, Herpes/HIV) are grouped together because they evoke similar clinical and pathological manifestations, what are they?

A

Fever

Encephalitis

Chorioretinitis

HSM

Pneumonitis

Myocarditis

hemolytic anemia

hemorrhagic skin lesions

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52
Q

Define fetal hydrops

A

accumulation of fluid in the fetus during intrauterine growth

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53
Q

What causes immune hydrops?

A

Blood group Ag incompatibility between mother and fetus

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54
Q

What major Ags are known to induce an immunologic rxn between mother and fetus?

A

Rh factor

ABO blood groups

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55
Q

What is the underlying pathogenic basis of immune hydrops?

A

Immunization of the mother by blood group ags on fetal RBCs and the free passage of Abs from the mother to the fetus through the placenta

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56
Q

What Ag is responsible for Rh incompatibility?

A

D Antigen

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57
Q

What are the consequences of excessive destruction of RBCs in the neonate?

A

Anemia

Jaundice (can lead to kernicterus)

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58
Q

What are the 3 major causes of nonimmune hyrdops?

A

CV defects

Chromosomal anomalies

Fetal anemia 2/2 α-thalassemia

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59
Q

What chromosomal abnormalities are associated with fetal hydrops?

A

Turner Syndrome (45, X)

Trisomy 18

Trisomy 21

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60
Q

What is the most serious threat in fetal hydrops?

A

Kernicterus

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61
Q

What occurs in kernicterus?

A

Unconjugated bilirubin from the break down of RBCs can pass through the BBB.

It is unsoluble and binds lipids in the brain, damaging the CNS, causing edema and a yellow tinge to the tissue

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62
Q

What are the clinical manifestations of fetal hydrops?

A

Minimally affected infants: pallor, HSM

Gravely ill infants: intense jaundice, edema, neurologic injury

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63
Q

Most inborn errors of metabolism are rare diseases that are inherited through what patterns?

A

Autosomal recessive

OR

X-linked

64
Q

What is the cause of phenylketonuria (PKU)

A

Autosomal recessive disorder arising from a severe deficiency in the enzyme phenylalanine hydroxylase (PAH) leading to a toxic build up of phenylalanine in the blood

65
Q

Clinical manifestations of PKU

A

Normal at birth

Phenylalanine levels rise in the blood over the first few weeks

At 6 months severe mental retardation is seen along with hypopigmentation of skin and hair, along with eczema, mousy or musty odor to sweat and urine

66
Q

Tx for PKU

A

Restrict phenylalanine in the diet

67
Q

What is the mechanism behind maternal PKU?

A

Females affected by PKU who live to child bearing age stop phenylalanine restriction once they hit adulthood; levels of Phe in the blood are high

During pregnancy, phenylalanine or its metabolites can cross the placenta, inducing teratogenic effects on the fetus

Child born to PKU mothers are usually mentally disabled and microencephalic, some have congenital heart disease

68
Q

What is the biochemical abnormality in PKU?

A

Without PKU, phenylalanine cannot be converted into tyrosine

(why you get secondary albinism, tyrosine is converted into melanin)

69
Q

What variant form of PKU cannot be treated by dietary restriction of phenylalanine?

A

The form caused by abnormal synthesis or recycling of tetrahydrobiopterin BH4

70
Q

What are the general clinical abnormalities that suggets an inborn error of metabolism?

A

Dysmorphic features

Deafness

Self-mutilation

Abnormal hair

Abnormal body or urine odor

HSM or cardiomegaly

Hydrops

71
Q

What are the neurologic clinical abnormalities that suggets an inborn error of metabolism?

A

Hypotonia or hypertonia

Coma

Persistent lethargy

Seizures

72
Q

What are the GI clinical abnormalities that suggets an inborn error of metabolism?

A

Poor feeding

Recurrent vomiting

Jaundice

73
Q

What are the clinical abnormalities seen in the eyes that suggets an inborn error of metabolism?

A

Cataracts

Cherry red macula

Dislocated lens (ectopia lentis)

Glaucoma

74
Q

Galactosemia is an autosomal recessive disorder of galactose metabolism resulting from

A

Accumulation of galactose-1-phosphate in tissues including: liver, spleen, lens of the eye, kidneys, cardiac muscle, brainm and RBCs

2/2 deficiency in galactose-1-phosphate uridyl transferase

75
Q

What are the clinical manifestations of galactosemia

A

Infants fail to thrive

Vomiting and diarrhea appear within a few days of milk ingestion

Jaundice and hepatomegaly evident the first week of life

Cataracts and mental retardation develop within 6-12 months

76
Q

What is the cause of cystic fibrosis?

A

Autosomal recessive disorder

Mutation in the CFTR gene on chromosome 7q31.2 leading to a defect in the transport of chloride

77
Q

Clinical manifestations of patients with CF

A

Chronic lung disease (bronchiectasis)

Pancreatic insufficiency

Steatorrhea

Hepatic cirrhosis

Intestinal obstruction (meconium ileus)

Male infertility

78
Q

What is the most common lethal genetic disease that affects caucasian populations?

A

Cystic fibrosis

79
Q

What is the incidence of CF?

A

1/2,500 live births

80
Q

What is the major function of CFTR in sweat gland ducts?

A

Resorb luminal chloride ions and augment sodium reabsorption via ENaC

81
Q

Pathogenesis of respiratory and intestinal complications in CF arise from?

A

Isotonic but low volume surface fluid layer

82
Q

Pancreatic insufficiency is almost always present when there are CFTR mutations that result in

A

Abnormal bicarbonate conductance

83
Q

What are the 6 classes of mutations based on their effect on the CFTR protein

A

I. Defective protein synthesis

II. Abnormal protein folding, processing, trafficking

III. Defective regulation

IV. Decreased conductance

V. Reduced abundance

VI. Altered function in regulation of channels

84
Q

What common class II mutation is found in 70% of CF patients and is associated with a complete lack of CFTR protein at the apical surface of epithelial cells?

A

A deletion of 3 nucleoties coding for phenylalanine at AA position 508 (ΔF508)

85
Q

What are possible explanations for the significant phenotypic differences in individuals with similar CFTR mutations?

A

Genetic and environmental modifiers

86
Q

In all variants of CF, sweat glands are morphologically

A

unaffected

87
Q

Morphologic changes in the pancreas of patients with CF

A

Accumulation of mucus in ducts, atrophy of exocrine glands, progressive fibrosis

88
Q

Viscid plugs of mucus in the small intestines of infants with CF can cause a bowel obstruction known as

A

Meconium ileus

89
Q

Morphologic changes in the liver of patients with CF

A

Bile canaliculi full of mucus

Steatosis

Focal biliary cirrhosis

90
Q

Morphologic changes in the salivary glands of patients with CF

A

Dilation of ducts

Squamous metaplasia of epithelial lining

Glandular atrophy followed by fibrosis

91
Q

Morphologic changes in the lungs of patients with CF

A

Bronchioles distended with thick mucus associated with marked hyperplasia and hypertrophy of the mucus-secreting cells

Bronchiectasis 2/2 infection

Lung abscesses

92
Q

Infertility is common in 95% of males with CF, what is also found relating to the infertility?

A

Bilateral absence of the vas deferens

93
Q

What are the common organisms that lead to the bronchiectasis seen in patients with CF?

A

Staph aureus

Haemophilus influenzae

Pseudomonas aeruginosa

Burkholderia cepacia (B. cenocepacia)

94
Q

After cardiopulmonary and transplant-relataed complications, what is the most common cause of death of patients with CF?

A

Liver disease

95
Q

What is the gold standard in diagnosing CF?

A

Sequencing the CFTR gene

96
Q

How does the National Institute of Child Health and Human Development define SIDS?

A

The sudden death of an infant under 1 yr of age which remains unexplained after thorough case investigation, including performance of autopsy, examination of death scene and review of clinical hx

97
Q

Why does SIDS have the pseudonym of crib death?

A

infant usually dies in their sleep, lying prone or on their side

98
Q

What is the leading cause of death in children between 1 mo and 1 y/o

A

SIDS

99
Q

Common morphological findings on postmortem examination of an SIDS infant

A

Multiple petechiae on the thymus, pleura, epicardium

Lung congestion

Vascular engorgement with pulmonary edema

Astrogliosis in CNS

100
Q

What is the triple-risk model of SIDS

A

Vulnerable infant

Critical developmental period in homeostatic control

Exogenous stressor

101
Q

What is the most common cause of sudden “unexpected” death

A

infections

102
Q

What are some parental risk factors of SIDS

A

Young maternal age

Maternal smoking during pregnancy

Drug abuse

Late or no prenatal care

Low socioeconomic group

AA or American indian ethnicity

103
Q

What are some infant risk factors for SIDS

A

Brain stem abnormalities

Prematurity

Low birth weight

SIDS in a prior sibling

Antecedent respiratory infections

Germline polymorphisms in ANS genes

104
Q

What are some environmental risk factors for SIDS

A

Prone or side sleep position

Sleeping on soft surfaces

Hyperthermia

Co-sleeping in the first 3 months

105
Q

What are two categories of tumor-like lesions that should be distinguished from true tumors (neoplasia)

A

Heterotopia (choristoma)

Hamartoma

106
Q

Define heterotopia

A

Microscopically normal cells or tissues that are present in abnormal places

107
Q

Define hamartoma

A

Excessive, focal overgrowth of cells and tissues native to the organ in which it occurs

108
Q

The most common neoplasms of childhood are

A

Soft-tissue tumors of mesenchymal derivation

109
Q

List the common benign tumors of childhood

A

hemangioma, lymphatic tumors, fibrous tumors, teratomas

110
Q

What are the most common tumors of infancy?

A

Hemangiomas

111
Q

What is a common location for a hemangioma?

A

The skin, specifically the face and scalp

112
Q

Lymphangiomas are characterized by

A

cystic or cavernous spaces

113
Q

Common locations of lymphangiomas

A

Deep in the neck, axilla, mediastinum, retroperitoneal tissues

114
Q

Fibrous tumors occuring in infants and children occur across a range, what types of tumors occur?

A

Fibromatosis to congenital-infantile fibrosarcomas

115
Q

What characteristic chromosomal translocation has been identified in congenital-infantile fibrosarcoma?

What does it result in?

A

t(12;15)(p13;q25)

ETV6-NTRK3 fusion transcript

116
Q

What is unique to infantile fibrosarcomas, making it a useful diagnostic marker?

A

ETV6-NTRK3 fusion transcript

117
Q

Most common teratoma of childhood?

A

Sacrococcygeal teratoma

118
Q

Sacrococcygeal teratomas affect females 4 times more than males and are associated with what?

A

Congenital anomalies, primarily defects in the hindgut and cloacal region and other midline defects (spina bifida, etc)

119
Q

The differences between cancers of infancy/childhood and those that occur later in life are attributed to:

A

Incidence and tumor type

Relatively frequent demonstration of a close relationship between abnl development and tumor induction

Underlying familial or genetic aberrations

Tendency of fetal and neonatal malignancies to regress or differentiate spontaneously

120
Q

The most frequent childhood cancers arise where?

A

Hematopoietic system

Nervous tissue

Soft tissues

Bone

Kidney

121
Q

What type of cancer causes more deaths in children under 15 y/o than all other cancers combined?

A

Leukemia

122
Q

Because of their primitive histologic appearance, many childhood tumors are referred to as

A

Small round blue cell tumors

123
Q

Malignant non-hematopoietic neoplasmas show features of organogenesis specific to the site of tumor origin, because of this, they are distinguished from other tumors by the suffix

A

-blastoma

124
Q

Neuroblastic tumors include tumors of the sympathetic ganglia and adrenal medulla, derived from what cell type that populates these sites?

A

Neural crest cells

125
Q

What is the most common extracranial solid tumor of childhood and what is its prevalence?

A

Neuroblastoma

1/7,000 live births (700 cases per year)

126
Q

Germline mutations in what gene has been determined to be a major cause of familial predisposition to neuroblastoma?

A

Anaplastic lymphoma kinase

127
Q

40% of neuroblastomas arise where?

A

Adrenal medulla

128
Q

What are classic histologic findings in neuroblastomas

A

small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets

Background often with eosinophilic neuropil

Rosettes (homer-wright pseudorosetters) often found as well

129
Q

Morphologic features of a ganglioneuroblastoma

A

Organized fascicles of neurotic processes

Schwann cells

Fibroblasts

130
Q

What is the typical presentation of a child, under 2 y/o, with a neuroblastoma

A

Abd masses

Fever

Weight loss

131
Q

Locations of common metastases from neuroblastoma?

A

Liver

Lungs

Bone marrow

132
Q

An important diagnostic feature of neuroblastomas is?

A

production of catecholamines, which occurs in 90% of cases

133
Q

The most pertinent prognostic factors of neuroblastoma include:

A
  1. age and stage (most important!!)
  2. Morphology
  3. Amplification of the MYCN oncogene (most profound impact)
  4. Ploidy
134
Q

What stages of neuroblastoma have the best prognosis, irrespective of age of the child?

A

1, 2A and 2B

135
Q

What is the age that has become the critical point of dichotomy in terms of prognosis?

A

18 months

(younger than 18 mo have better prognosis than those over 18 mo)

136
Q

Morphologic evidence of schwannian stroma and gangliocytic differentation have what type of prognosis for a child with neuroblastoma?

A

Favorable

137
Q

What has the most profound impact on prognosis of neuroblastoma?

A

Amplification of the MYCN oncogene

(presence of amplification puts tumor into high risk category with poor prognosis)

138
Q

What category of ploidy is associated with a better prognosis of neuroblastoma?

A

Hyper-diploid

139
Q

High expression of what neurotrophin receptor is associated with a favorable prognostic factor in neuroblastoma?

A

TrkA (tyrosine kinase receptor A)

140
Q

What is the most common primary renal tumor in children and what is its prevalence?

A

Wilms tumor

1/10,000 children

141
Q

Tumors that involve both kidneys simultaneously is referred to as?

A

Synchronous

142
Q

Tumors that involve one kidney after the other is referred to as?

A

Metachronous

143
Q

The risk of wilms tumor increases with three recognizable groups of congenital malformations associated with distinct chromosomal loci, what are they?

A

Children with WAGR syndrome

Children who have Denys-Drash syndrome

Children with Beckwith-Wiedemann syndrome

144
Q

WAGR syndrome is characterized by

A

Wilms tumor

Aniridia

Genital anomalies

mental Retardation

145
Q

What is the chromosomal deletion associated with WAGR syndrome?

What genes on this chromosome are deleted, leading to the sxs associated with WAGR syndrome

A

11p13

WT1 (wilms tumor-associated gene)

PAX6 (gene for aniridia)

146
Q

Denys-drash syndrome is characterized by

A

gonadal dysgenesis

early-onset nephropathy leading to renal failure

147
Q

What is the genetic abnormality in Denys-Drash syndrome

A

Dominant-negative missense mutation in the zinc-finger region of WT1 protein, affecting DNA binding properties

148
Q

Beckwith-Wiedemann syndrome is characterized by

A

Organomegaly

Macroglossia

hemihypertrophy

Omphalocele

Abnormal large cells in the adrenal cortex

149
Q

What chromosomal region is implicated in Beckwith-Weidemann syndrome?

A

11p15.5

150
Q

The predisposition to tumorigenesis in beckwith-weidemann syndrome is influenced by what?

A

The specific WT2 imprinting abnormalities present

151
Q

What are nephrogenic rests

A

Precursor lesions of Wilms tumors, seen in the renal parenchyma adjacent to approx 25-40% of unilateral tumors and 100% of bilateral tumors

152
Q

Gross morphologic features associated with wilms tumor

A

large, solitary, well-circumscribed mass

When cut, tumor is soft, homogenous and often tan/gray in color with occassional hemorrhage, cyst or necrosis

153
Q

Histologic features associated with wilms tumor

A

sheets of small blue cells with few distinctive features characterize the bastemal feature

Epithelial differentiation of abortive tubules or glomeruli

stromal cells are fibrocytic or myxoid in nature

154
Q

Clinical presentation of a child with wilms tumor

A

large abd mass

hematuria

intestinal obstruction

HTN

155
Q

What histologic finding is a critical determinant of adverse prognosis of wilms tumor?

A

Anaplasia

156
Q

Those with a history of wilms tumor are at an increased risk of developing what secondary tumors?

A

Bone sarcoma

Soft-tissue sarcoma

Leukemia

Lymphoma

Breast CA

157
Q

Loss of material on chromosomes 11q and 16q as well as gain of chromosome 1q in Wilms tumor cells indicates what prognosis?

A

poor

MOD Exam 2 (5 decks)

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