Lecture 11: Pediatric Diseases

Question 1

Congenital anomalies

Answer 1

Morphologic defects present at birth, including malformations, disruptions, deformations, sequence, syndromes

Question 2

Malformations

Answer 2

Primary errors of morphogenesis; intrinsically abnormal embryonic/fetal development. Usually multifactorial (assoc. w/ many gene loci)

Question 3

Congenital abnormality causes

Answer 3

• Genetic
• Environmental
• Multifactorial

Question 4

Thalidomide

Answer 4

Causes limb defects (phocomelia, flipper limbs) in newborns

Question 5

Fetal Alcohol Syndrome

Answer 5

• Epicanthal folds
• Low nasal bridge
• Minor ear abnormalities
• Micrognathia (undersized lower jaw)
• Short nose
• Short palpebral fissures
• Thin upper lip

Question 6

Congenital rubella syndrome

Answer 6

Caused by rubella infection.
- Cataracts
- Deafness
- Heart defects
- Mental retardation
- Blueberry muffin rash

Question 7

Zika virus

Answer 7

Environmental cause of congenital defects
- Microcephaly

Question 8

Multifactorial congenital defects

Answer 8

Interaction of environmental influences with multiple genes of small effect
- Neural tube defects
- Cleft lip/palate

Question 9

Prematurity

Answer 9

Gestational age <37 weeks, weight <2500 grams

Question 10

Major risk factors with prematurity

Answer 10

• Preterm Premature Rupture of Placental Membranes
• Intrauterine infection
• Uterine/cervical/placental structural abnormalities
• Multiple gestation

Question 11

Entities assoc. w/ prematurity

Answer 11

• Neonatal respiratory distress syndrome
• Necrotizing enterocolitis
• Sepsis
• Intraventricular/germinal matrix hemorrhage

Question 12

Neonatal RDS

Answer 12

• Dyspnea, fine rales
• Maternal diabetes history
• Immature lungs -> surfactant deficiency
• Increased surface tension, collapsed lungs, progressive atelectasis, reduced compliance
• Protein/fibrin-rich exudate

Question 13

RDS treatment

Answer 13

• Maternal steroids before birth
• Artificial surfactant
• Mechanical ventilation
• Supplemental O2

Question 14

O2 therapy complications

Answer 14

RIB:
- Retrolental fibroplasia
- Intraventricular hemorrhage
- Bronchopulmonary dysplasia

Question 15

Necrotizing enterocolitis

Answer 15

• Abdom. distension, absent bowel sounds, bloody stool, perforation

Question 16

Benign pediatric tumors

Answer 16

• Vascular (hemangiomas)
• Teratomas

Question 17

Hemangiomas

Answer 17

Most common infant tumors
- Capillary type: skin, subQ tissue, oral/lips mucous memb., liver, spleen, kidneys. Spont. regress many times.
- Cavernous: involve deeper structures, more local destruction, do not regress alone

Question 18

von Hippel-Lindau disease

Answer 18

Autosomal dominant disorder assoc. w/ hemangiomas

Question 19

Teratomas

Answer 19

Neoplasms that include tissues from all 3 germ cell layers

Question 20

Types of teratomas

Answer 20

1. Mature
2. Immature
3. Malignant

Question 21

Mature teratomas

Answer 21

Well-differentiated cystic lesions, benign

Question 22

Immature teratomas

Answer 22

Indeterminate potential

Question 23

Malignant teratomas

Answer 23

Usually admixed w/ another germ cell tumor component

Question 24

Sacrococcygeal teratomas

Answer 24

Most common childhood teratomas. 10% assoc. w/ congenital anomalies. Malignant potential correlates w/ amount of immature material present

Question 25

Malignant pediatric tumors

Answer 25

- Neuroblastomas - Retinoblastomas - Nephroblastomas (Wilms tumor)

Question 26

Neuroblastoma

Answer 26

Sympathetic ganglia/adrenal medulla tumor. Most common childhood adrenal medulla tumor.

Question 27

Neuroblastoma classes

Answer 27

Classified by neural differentiation. 1. Neuroblastoma (primitive stroma) 2. Ganglioneuroblastoma (primitive stroma, ganglion cells) 3. Ganglioneuroma (ganglion cells, Schwannian stroma)

Question 28

N-myc amplification

Answer 28

N-myc overexpression assoc. w/ rapid tumor progression; more copies = worse prognosis.

Question 29

Retinoblastoma

Answer 29

Most common primary intraocular childhood malignancy. Many of germ-line mutation of 1 RB allele

Question 30

Wilms tumor

Answer 30

Aka nephroblastoma. Most common childhood primary renal tumor. - Huge flank mass, hematuria, anorexia, nausea, vomiting, fever, abd. pain - Assoc. w/ WT1 tumor suppressor deletion (chr. 11)

Question 31

Anaplasia

Answer 31

Cells w/ large, hyperchromatic, pleomorphic nuclei and abnormal mitoses; 5% of tumors.