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Pathology > Infant / Childhood Diseases > Flashcards

Infant / Childhood Diseases Flashcards

1
Q

Most common congenital malformation in the US

25.7 per 10,000 births

A

CLUBFOOT. Internal rotation at ankle.

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2
Q

What are the four most common congenital malformations in the US?

A
  1. Clubfoot w/o CNS anomalies
  2. Patent Ductus Arteriosus (PDA)
  3. Ventricular Septal Defect (VSD)
  4. Cleft Lip w/ or w/o cleft palate
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3
Q

What are the four most common congenital malformations in the US?

A
  1. Clubfoot w/o CNS anomalies
  2. Patent Ductus Arteriosus (PDA)
  3. Ventricular Septal Defect (VSD)
  4. Cleft Lip w/ or w/o cleft palate
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4
Q

Neonate (newborn)

A

0-28 days (4wks)

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5
Q

Normal birth term

A

38-42 wks

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6
Q

Pre-term birth (prematurity)

A

less than 37 wks
Second most common cause of neonatal mortality
12% of infants born prematurely in US

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7
Q

Post-term birth

A

longer than 42 wks

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8
Q

Infant

A

28days - 1yr (less than 1yr old)

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9
Q

Child

A

1yr - 17yrs

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10
Q

Risk factors for pre-mature birth

A

PPROM: preterm premature rupture of membranes
Smoking, previous preterm delivery, vaginal bleeding
Intrauterine infection, abnormal uterus, cervix, placenta
Multiple gestations

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11
Q

Risk factors for pre-mature birth

A

PPROM: preterm premature rupture of membranes
Smoking, previous preterm delivery, vaginal bleeding
Intrauterine infection, abnormal uterus, cervix, placenta
Multiple gestations

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12
Q

Complications of pre-mature birth

A 
Hyaline membrane disease
Necrotizing enterocolitis
Sepsis
Intraventricular hemorrhage
Developmental delay
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13
Q

Sx of prematuirty

A

Small infant (

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14
Q

Fetal Growth Restriction

A

Fetal wt below 10th percentile for gestation age as determined thru ultrasound

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15
Q

Fetal Growth Restriction Complications

A

Perinatal asphyxia, meconium aspiration, hypoglycemia, polycythemia, brain dysfunctions, hearing and visual impairment, learning disability.

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16
Q

Fetal Growth Restriction Complications

A

Perinatal asphyxia, meconium aspiration, hypoglycemia, polycythemia, brain dysfunctions, hearing and visual impairment, learning disability.

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17
Q

Predisposing factors for birth injury

A

LGA, small pelvis, precipitous delivery, abnormal presentation, forceps

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18
Q

Caput cuccedaneum

A

Birth Injury: edema of presenting part of scalp. Significant only if there is an underlying skull fracture

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19
Q

Cephalhematoma

A

Birth Injury: hemorrhage under periosteum, sometimes underlined by skull fracture

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20
Q

Subgaleal hemorrhage

A

Birth Injury: hemorrhage that extends over entire scalp

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21
Q

Causes of intracranial Hemorrhage

in newborns - d/t birth injury

A

Hypoxia/ischemia, variation in blood pressure, pressure on head during labor, common in small premature infants

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22
Q

Subarachnoid hemorrhage (in newborns - d/t birth injury)

A

Most common, related to forceps or precipate expulsion, presents w/ apnea, seizures, may lead to hydrocephaly

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23
Q

Subdural hemorrhage (in newborns - d/t birth injury)

A

presents w/ seizures and enlarging head

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24
Q

Germinal Matrix Hemorrhage

in newborns - d/t birth injury

A

Occurs in premature infants. Can be fatal

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25
Q

Ascending (Transcervical) Infections - Perinatal Infections

A

Bacterial invasion thru cervix, following/triggering premature rupture of membranes (PROM). May cause inflammation of placental and extraplacental membranes (chorioamnionitis)
And inflammation of the umbilical cord (funisitis). May result in neonatal sepsis/pneumonia/meningitis

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26
Q

Ascending (Transcervical) Infections - Perinatal Infections

A

Bacterial invasion thru cervix, following/triggering premature rupture of membranes (PROM). May cause inflammation of placental and extraplacental membranes (chorioamnionitis)
And inflammation of the umbilical cord (funisitis). May result in neonatal sepsis/pneumonia/meningitis

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27
Q

Neonatal Sepsis
Early vs Late Onset
Most common cause of early onset?

A

Invasice bacterial infection in first week of life (early onset) vs next 3mo (late onset). More common in premature newborns, PROM 12-24hrs b4 birth, maternal bleeing/infection. Group B streptococcus (GBS). Complications: pneumonia and meningitis.

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28
Q

Ascending (Transcervical) Infections - Perinatal Infections

A

Bacterial invasion thru cervix, following/triggering premature rupture of membranes (PROM). May cause inflammation of placental and extraplacental membranes (chorioamnionitis). And inflammation of the umbilical cord (funisitis). May result in neonatal sepsis, pneumonia, meningitis.
E-coli, GBS, Herpes Simplex II

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29
Q

Neonatal Sepsis
Early vs Late Onset
Most common cause of early onset?

A

Invasice bacterial infection in first week of life (early onset) vs next 3mo (late onset). More common in premature newborns, PROM 12-24hrs b4 birth, maternal bleeing/infection. Group B streptococcus (GBS). Complications: pneumonia and meningitis.

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30
Q

Risk Factors for Early-onset Neonatal Spesis

A 
Previous infant w/ GBS
GBS bacteriuria during pregnancy
Delivery b4 37wks
Ruptured membranes >18hrs
Intrapartum temp > 38
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31
Q

Risk Factors for Early-onset Neonatal Spesis

A 
Previous infant w/ GBS
GBS bacteriuria during pregnancy
Delivery b4 37wks
Ruptured membranes >18hrs
Intrapartum temp > 38
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32
Q

What are the most common transplacental infections?

A

TORCHeS

Toxoplasmosis, Others (listeriosis, HIV, HBV, Parovirus B19) Rubella, Cytomegalovirus, Herpesvirus, Syphilis

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33
Q

Manifestations of transplacental infections

A

Pneumonitis, chorioretinitis, myocarditis, encephalitis, hepatosplenomeagaly, anemia, thrombocytopenia
All can be caused by the TORCHeS infections

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34
Q

Parovirus B19

A

Part of the TORCHeS (kind of, its under ‘O’ for ‘other’)
Causesabortion, stillbirth, nonimmune hydrops fetalis, anemia. Erythroid precursors in infant bone marrow and spleen develop typical inclusions.

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35
Q

Parovirus B19

A

Part of the TORCHeS (kind of, its under ‘O’ for ‘other’)
Causesabortion, stillbirth, nonimmune hydrops fetalis, anemia. Erythroid precursors in infant bone marrow and spleen develop typical inclusions.

36
Q

What are some causes of neonatal Respiratory Distress Syndrome (RDS)?

A

HMD is most common cause. Others: aortic stenosis, coarctation of aorta, pneumonia, pneumothorax, hypoglycemia, hypo/hyperthermia, drugs, excessive maternal sedation, fetal head injury, aspiration of blood/amniotic fluid, umbilical cord coiling, lack of surfactant.

37
Q

RDS risk factors

A

Prematurity, diabetic moms, C-section, male infants

38
Q

Pathology of Neonatal RDS / HMS

A

lack of surfactant results in atelectasis, hypoxemia, hypercarbia: these trigger pulm artery vasocx and increased R2L shunting leading2 acidosis, pulm vasocx and hypoperfusion. Ischemia damages alveolar/endothelial cells, plasma proteins (fibrin) leak into alveolar spaces. Proteins/cellular debris in alveolar ducts form hyaline membranes. Hyaline Membrane Disease.

39
Q

RDS Sx

A

rapid grunting respirations, respiratory distress, cyanosis

40
Q

RDS Dx

A

Amniotic fluid phospholipids: at maturity the amniotic fluid lectin/sphingomyelin ration is >2 and phosphatidylglycerol is present. Arterial blood gas show hypoxemia and hypercarbia. CXR shows atelectasis (ground-glass appearance)

41
Q

RDS Tx

A

antenatal administration of steroids, surfactant replacement therapy, O2

42
Q

RDS acute and long term complications

A

Acute: infection, air leaks, cerebral hemorrhage, necrotiing enterocolitis
Chronic: O2 toxicity causes bronchopulmonary dysplasia and retrolental fibroplasia (retinopathy of prematurity)

43
Q

RDS acute and long term complications

A

Acute: infection, air leaks, cerebral hemorrhage, necrotiing enterocolitis
Chronic: O2 toxicity causes bronchopulmonary dysplasia and retrolental fibroplasia (retinopathy of prematurity)

44
Q

Necrotizing Enterocolitis

A

Complication of prematurity and low birth wt

Multifactorial etiology: ischemia causes bowel necrosis in terminal ileum. Gas in bowel wall, perforation/strictures

45
Q

Bronchopulmonary Dysplasia

A

Complication of preterm neonate tx w/ longerm O2 therapy and pos pressure ventilation. Sponge-like lung radiology, interstitial fibrosis: thick septa, epithelial hyperplasia, squamous hyperplasia, decreased alveoli, predisposition to resp. infection. Cobblestone exterior surface of lung d/t hyperinflation and collapse.

46
Q

Necrotizing Enterocolitis

A

Complication of prematurity and low birth wt
Multifactorial etiology: ischemia, infection, or oral feeding (intraluminal substrate) causes bowel necrosis in terminal ileum. Gas in bowel wall, perforation/strictures

47
Q

Bronchopulmonary Dysplasia

A

Premature newborns

48
Q

Bronchopulmonary Dysplasia

A

Premature newborns

49
Q

Fetal Hydrops

hydrops fetalis) vs (cystic hygroma

A

Accumulation of fluid (edema) in thefetus, generalized edema of the fetus is called hydrops fetalis. Localized edema in soft tissues of neck is called cystic hygroma.

50
Q

Fetal Hydrops

hydrops fetalis) vs (cystic hygroma

A

Accumulation of fluid (edema) in thefetus, generalized edema of the fetus is called hydrops fetalis. Localized edema in soft tissues of neck is called cystic hygroma.

51
Q

Anasarca

A

Generalized Edema

52
Q

Kernicterus

A

Hyperbilirubinemia, deposition in brain parenchyma when bilirubin >20mg/dL. Brain damage results in bilirubin encephalopathy.

53
Q

Immune vs non-immune hydrops

A

Inflammation of the butt-hole

54
Q

Immune vs non-immune hydrops

A

Inflammation of the butt-hole

55
Q

Parovirus B19 Infection

A

tropic for erythroid progenitor cells. Viremia, rash, 33% o fetal transmission. Fetal infection may cause abortion during 1st trimester, in 2nd/3rd trimesters B19 accounts for

56
Q

SIDS

A

Most common cause of mortality b/t 4wks and 1yr. Assoc w/ parental, infant, environmental risk factors: maternal smoking, drugs, young mom, freq. childbirths, prone sleeping on soft surface, hyperthermia, preterm, male, low birth wt, prior sibling, recent resp tract infection. Multifactorial condition of unknown cause. Brain stem abnormality in arousal and cardioresp control in arcuate nucleus.

57
Q

SIDS

A

Most common cause of mortality b/t 4wks and 1yr. Assoc w/ parental, infant, environmental risk factors: maternal smoking, drugs, young mom, freq. childbirths, prone sleeping on soft surface, hyperthermia, preterm, male, low birth wt, prior sibling, recent resp tract infection. Multifactorial condition of unknown cause. Brain stem abnormality in arousal and cardioresp control in arcuate nucleus.

58
Q

Hemangioma

A

Most common (vascular) tumor of infancy. Include capillary hemangioma (strawberry type) and Cavernous Hemangioma

59
Q

Capillary Hemangioma

A

Strawberry type. On skin, spontaneously regress, leaves scarring and hemosiderin pigment, thin walled capillaries w/ scant stroma. Birthmarks w/ only cosmetic importance. Rapid growth during 1st yr, slowing in next 5yrs, regressing by age 10-15. Prognosis better than cavernous hemangiomas.

60
Q

Cavernous Hemangiomas

A

Component of vonHippel-Lindau disease (cerebellum, retina, cysts, renal cell carcinoma, pheochromocytoma) or independent. Prognosis not as good as capillary hemangioma. Large cavernous blood-filled vascular spaces separated by CT stroma. “port-wine stains” that don’t regress. In trigeminal nerve area as part of Sturge-Weber syndrome assoc w/ tumors in leptomeninges, hemiplegia, MR

61
Q

Hemangiomas

A

Most common (vascular) tumor of infancy. Include capillary hemangioma (strawberry type) and Cavernous Hemangioma

62
Q

Capillary Hemangiomass

A

Strawberry type. On skin, spontaneously regress, leaves scarring and hemosiderin pigment, thin walled capillaries w/ scant stroma. Birthmarks w/ only cosmetic importance. Rapid growth during 1st yr, slowing in next 5yrs, regressing by age 10-15. Prognosis better than cavernous hemangiomas.

63
Q

Cavernous Hemangiomas

A

Component of vonHippel-Lindau disease (cerebellum, retina, cysts, renal cell carcinoma, pheochromocytoma) or independent. Prognosis not as good as capillary hemangioma. Large cavernous blood-filled vascular spaces separated by CT stroma. “port-wine stains” that don’t regress. In trigeminal nerve area as part of Sturge-Weber syndrome assoc w/ tumors in leptomeninges, hemiplegia, MR

64
Q

Lymphangiomas

A

Occur in neck, axilla, mediastinum, retroperitoneal tissues. Most common is cystic hygroma: a cavernous lymphangioma of the neck or the axilla. These lesions are progressive, don’t regress, should be resected.

65
Q

Lymphangiectasis

A

Dilated lymph channels presenting as a diffuse non-progressive swelling of an extremity w/ cosmetic consequences.

66
Q

Infantile Myofibromatosis

A

Most prevalent fibrous tumor of infancy. Multiple subcutaneous myofibromas (benign fibrous tumors). Cells express muscle-specific actin, spindle shape, mitotic figures. Solitary form and multicentric form w/o visceral involvement spontaneously regress. Multicentric form w/ visceral involvement = varied sx & death w/in first 4mo of life.

67
Q

Infantile Myofibromatosis

A

Most prevalent fibrous tumor of infancy. Multiple subcutaneous myofibromas (benign fibrous tumors). Cells express muscle-specific actin, spindle shape, mitotic figures. Solitary form and multicentric form w/o visceral involvement spontaneously regress. Multicentric form w/ visceral involvement = varied sx & death w/in first 4mo of life.

68
Q

Aggressive Infantile Myofibromatosis

A

Myofibroblast cells infiltrate skeletal muscle, does not metastasize

69
Q

(Congenital-infantile) Fibrosarcoma

A

Malignant. High grade atypia and high mitotic index. Very dark/dense spots - “ugly cells”
Densely cellular tumor w/ good prognosis

70
Q

Fibromatosis

A

A condition characterized by the occurrence of multiple fibromas, subcutaneous nodules that sometimes may grow rapidly.

71
Q

Fibromatosis

A

A condition characterized by the occurrence of multiple fibromas, subcutaneous nodules that sometimes may grow rapidly.

72
Q

Teratomas

A

Germ cell neoplasm. Benign. Most in sacrococcygeal region. Most frequently recognized neoplasm of fetuses. More common in girls. Most common solid tumor of newborn (benign). A significant number w/ this develop non-immune hydrops in utero and die.

73
Q

Teratomas

A

Germ cell neoplasm. Benign. Most in sacrococcygeal region. Most frequently recognized neoplasm of fetuses. More common in girls. Most common solid tumor of newborn (benign). A significant number w/ this develop non-immune hydrops in utero and die.

74
Q

Three cateogries of teratomas
Cure rate
Complications

A
  1. benign, well-differentiated aldult tissue
  2. immature, embryonic tissue, not malignant
  3. malignant
    All types have malignant potential: 10%males, 7%females
    95% cure rate of benign teratoma
    Polyhydraminos, PROM, cardiac failure, coagulopathy
75
Q

Three cateogries of teratomas
Cure rate
Complications

A
  1. benign, well-differentiated aldult tissue
  2. immature, embryonic tissue, not malignant
  3. malignant
    All types have malignant potential: 10%males, 7%females
    95% cure rate of benign teratoma
    Polyhydraminos, PROM, cardiac failure, coagulopathy
76
Q

Most common malignancies in children under 4yo

A

Leukemia, brain tumors, neuroblastoma, wilms tumor, hepatoblastoma, retinoblastoma, rhabdomyosarcoma
Tend to regress, differentiate and respond to tx better

77
Q

Neuroblastoma

A

Malignant, primitive sympathetic cells of adrenal medulla
sympathetic chain also affected. Most common extra cranial solid malignancy of childhood. Sx: abdominal mass & wt loss, blueberry muffin baby. Dx: catecholamines in blood, neuron specific enolase, VMA/HVA in urine. Morphology: small blue round cells = rosette structure. Dense core neurosecretory granules on EM.

78
Q

Neuroblastoma

A

Malignant, primitive sympathetic cells of adrenal medulla
sympathetic chain also affected. Most common extra cranial solid malignancy of childhood. Sx: abdominal mass & wt loss, blueberry muffin baby. Dx: catecholamines in blood, neuron specific enolase, VMA/HVA in urine. Morphology: small blue round cells = rosette structure. Dense core neurosecretory granules on EM. Oncogene: N-myc

79
Q

Wilms Tumor

A

Most common primary malignancy of kidney in kids. Sx: abdominal mass, hematuria, fever, HTN. Dx: r/o neuroblastoma. Morphology: primitive tubules. Prognosis good w/ nephrectomy. DIffuse anaplasia in extrarenal mets = poorer prognosis. Associated w/ two syndromes/malformations: WAGR and Denys-Drash

80
Q

Wilms Tumor (WT) Congenital Malformations

A

WAGR Syndrome: 33% risk for WT, aniridia, genital anomalies, MR, germline DELETION of 11p13 (WT1)

Denys-Drash: 90% risk for WT, nepropathy, gonadal dysgenesis, gonadoblastoma, WT1 MUTATION

81
Q

Rhabdomyosarcoma

A

Most common sarcoma (soft tissue) of childhood. Malignency of skeletal muscle. Most near head/neck and around EYES.
Three types: Embryonal, Alveolar, Pleomorphic

82
Q

Embryonal rhabdomyosarcoma

A

60% of all rhabdomyosarcomas. Best prognosis. Sarcoma botryoides: develops in walls of hollow mucosal lined structures: nasopharynx, common bile duct, bladder, vagina

83
Q

Alveolar Rhabdomyosarcoma

A

20% of all rhabdomyosarcomas, tumor cells separated by fibrous septae: divide into clusters that look like alveoli

84
Q

Pleomorphic Rhabdomyosarcoma

A

20% of all rhabdomyosarcomas, worst prognosis. Mostly in adults. Numerous, large, multinucleated, hyperchromatic, myogenin is a marker for rhabdomyocytes

85
Q

Pleomorphic Rhabdomyosarcoma

A

20% of all rhabdomyosarcomas, worst prognosis. Mostly in adults. Numerous, large, multinucleated, hyperchromatic, myogenin is a marker for rhabdomyocytes

86
Q

Fetal Alcohol Syndrome

A

Pattern of physical/mental defects d/t alcohol crossing placenta: growth retardation, microcephaly, short palpebral fissures, maxillary hypoplasia, atrial septal defect

87
Q

Neural Tube Defects

A

Improper closing of spinal cord/brain in early development. Folic acid greatly reduces the incidence. To screen: test mom’s senum AFP levels

Pathology (6 decks)

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