09 - Diseases of infancy and childhood

Question 1

Most common cause of congenital anomalies:

Answer 1

Unknown!

Question 2

Most common known cause of congential anomalies:

Answer 2

Multifactioral!

Question 3

Second most common cause of neonatal morbidity:

Answer 3

Prematurity

Question 4

Most common cause of neonatal morbidity:

Answer 4

Congenital anomalies

Question 5

Most common lethal genetic disease affecting Caucasian populations:

Answer 5

Cystic fibrosis

Question 6

Most serious manifestation of cystic fibrosis:

Answer 6

Mucus plugging and secondary bacterial pulmonary infections

Question 7

Most common tumors of infancy:

Answer 7

hemangiomas

Question 8

Most common teratomas of childhood:

Answer 8

sacrococcygeal teratomas

Question 9

Most common extracranial solid tumor of childhood:

Answer 9

Neuroblastoma

Question 10

Most frequently diagnosed malignancy of infancy

Answer 10

Neuroblastoma

Question 11

Most common site of Neuroblastoma:

Answer 11

Adrenal medulla

Question 12

Most common primary renal tumor of childhood:

Answer 12

Wilms tumor

Question 13

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process; example: Polydactyly

Answer 13

Malformations

Question 14

These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis; example: Amniotic bands

Answer 14

Disruptions

Question 15

These are due to generalized compression of the growing fetus by abnormal biomechanical forces; example: Uterine constraint

Answer 15

Deformations

Question 16

This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption; example: Oligohydramnios (Potter) sequence

Answer 16

Sequence

Question 17

Complete absence of an organ or its anlage.

Answer 17

Agenesis

Question 18

Incomplete development of an organ.

Answer 18

Aplasia

Question 19

Underdevelopment of an organ.

Answer 19

Hypoplasia

Question 20

Absence of an opening, usually of a hollow visceral organ.

Answer 20

Atresia

Question 21

Most common cause of neonatal mortality.

Answer 21

Congenital anomalies

Question 22

Most common cause of congenital malformation in humans.

Answer 22

Unknown (40-60%)

Question 23

Most common known cause of congenital malformations in humans.

Answer 23

Multifactorial (20-25%)

Question 24

Most common genetic cause of congenital malformations in humans.

Answer 24

Chromosomal aberrations

Question 25

Elements of the TORCH complex.

Answer 25

Toxoplasma, Others (Treponema pallidum), Rubella, Cytomegalovirus, Herpesvirus

Question 26

Second most common cause of neonatal mortality.

Answer 26

Prematurity

Question 27

Histologically characterized by eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells, admixed with extravasated plasma proteins (Diffuse alveolar damage).

Answer 27

Respiratory distress syndrome of the newborn (Hyaline membrane disease)

Question 28

Main component of pulmonary surfactant; which is insufficient in hyaline membrane disease.

Answer 28

Dipalmitoylphosphatidylcholine (DPPC)

Question 29

A complication of hyperoxic therapy in patients with RDS, resulting in neovasculatization of retinal vessels, leading to blindness.

Answer 29

Retinopathy of prematurity (ROP)/Retrolental fibroplasia

Question 30

A complication of hyperoxic injury in patients with RDS, resulting in alveolar hypoplasia or a decrease in the number of mature alveoli; morphologically, there is large, simplified alveolar structures, and a dysmorphic capillary configuration.

Answer 30

Bronchopulmonary dysplasia (BPD)

Question 31

This condition occurs more commonly in very-low-birth-weight infants, as a result of intestinal ischemia, bacterial colonization of gut and formula milk feeding; histologically, there is presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration, and bacterial colonization.

Answer 31

Necrotizing enterocolitis (NEC)

Question 32

Results from antibody-induced hemolytic disease in the newborn that is caused by blood group incompatibility between mother and fetus, leading to edema fluid accumulation; examples: ABO and Rh incompatibility

Answer 32

Immune hydrops

Question 33

Hydrops caused by cardiovascular defects, chromosomal anomalies, and fetal anemia.

Answer 33

Nonimmune hydrops

Question 34

Inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts; most common lethal genetic disease affecting Caucasian populations; involved gene is CFTR-1 in Ch7q31.2.

Answer 34

Cystic fibrosis (CF)

Question 35

Defined as the sudden death of an infant under 1 year of age which remains unexplained after a thorough investigation; characteristic findings include: multiple petechiae of the thymus, visceral and parietal pleura and epicardium, congested lungs with vascular engorgement with or without pulmonary edema; there is also hypoplasia of the arcuate nucleus.

Answer 35

Sudden infant death syndrome (SIDS)

Question 36

Tumors arising from neural crest cells; composed of small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets within a finely fibrillar matrix (neuropil: eosinophilic fibrillary material that corresponds to neuritic processes of neuroblasts); associated with Homer-Wright pseudorosettes.

Answer 36

Neuroblastoma (Classically described as a mass crossing the midline, vs. Wilms tumor that does not cross the midline)

Question 37

Most common primary tumor of the kidney in children; second most common primary tumor of the kidney overall (next to RCC); presents grossly as a large, solitary, well-circumscribed mass; microscopically, a combination of blastemal, stromal and epithelial cell types is observed (Triphasic combination); blastemal components are described as sheets of small blue cells with few distinctive features; stromal cells are fibrocytic or myxoid in nature; epithelial cells take the form of abortive tubules or glomeruli.

Answer 37

Wilms tumor