Path 3 Child

Question 1

Cystic fibrosis inheritance

Answer 1

Autosomal recessive

Question 2

Cystic fibrosis mutation

Answer 2

CFTR chloride channel

Question 3

Cystic fibrosis effect

Answer 3

Sweat duct - Na/Cl can’t go in -> hypertonic sweat

Airway - Cl can’t leave, Na/H2O floods in -> dehydrated mucus

Question 4

Cystic fibrosis lung infections (3)

Answer 4

S. Aureus
Pseudomonas
H. influenza

Question 5

Cystic fibrosis non-lung

Answer 5

Sinusitis, nasal polyps, meconium ileus, pancreatitis, cholelithiasis

Question 6

Cystic fibrosis male complication

Answer 6

CBAVD - congenital bilateral atrophy of vas deferens - infertility

Question 7

Cystic fibrosis Dx

Answer 7

Sweat chloride test

-false negative with hyponatremia

Question 8

Hemartoma

Answer 8

Normal cells, native location

-Common in lungs

Question 9

Choristoma

Answer 9

Normal cells, abnormal location

Question 10

Congenital capillary hemangioma

Answer 10

Benign, spontaneous regression

Question 11

Sturge Weber syndrome

Answer 11

Facial nevi
Venous angioma in leptomeninges
Mental retardation

Question 12

Pyogenic granuloma

Answer 12

Hemangioma on gums of pregnant women

Question 13

Most common germ cell tumor of childhood

Answer 13

Sacrococcygeal teratoma

Question 14

Neuroblastoma, retinoblastoma, Wilms tumor, Ewing sarcoma, medulloblastoma, rhabdomyosarcoma

Answer 14

Small blue cell tumor

Question 15

Neuroblastoma

-3 locations

Answer 15

Neural crest cell blue tumor

• Adrenal medulla
• Sympathetic ganglia
• Mediastinum, retroperitoneum

Question 16

Neuroblastoma Dx

Answer 16

Urine epinephrine metabolites - same as pheochromocytoma

• VMA (Vanillylmandelic acid)
• HVA (Homovanilic acid)

Question 17

Neuroblastoma histo

Answer 17

Homer wright pseudorosettes

-Neurosecretory granules (EM)

Question 18

Ganglioneuroma

Answer 18

Neuroblasts -> ganglion cells

-Schwannian stroma

Question 19

Neuroblastoma bad prognosis

Answer 19

Nmyc amplification

-Telemorase

Question 20

Retinoblastoma histo

Answer 20

Flexner-Wintersteiner rosettes (true, empty)

Question 21

Retinoblastoma clinical

Answer 21

Leukocoria

Question 22

Retinoblastoma association

Answer 22

Osteosarcoma

Question 23

Wilm’s tumor clinical

Answer 23

Asymptomatic abdominal mass

Question 24

Wilm’s tumor syndromes (3)

Answer 24

Denys-Drash
WAGR
Beckwith Wiedermann

Question 25

Denys-Drash syndrome

Answer 25

- Male pseudohermaphroditism - Early renal failure - WT1 missense mutation

Question 26

WAGR syndrome

Answer 26

Wilms tumor Aniridia Genitourinary abnormalities Retardation (WT1)

Question 27

Beckwith-Wiedemann syndrome

Answer 27

Organomegaly, macroglossia, omphalocele - IGF overexpression - Disorder in Ch 11 band 15.5 imprinting (WT2)

Question 28

Genetic imprinting

Answer 28

Silencing

Question 29

Wilm's tumor micro

Answer 29

Nephrogenic rest precursor - Blastema (small blue cells) - Stroma - Epithelium (tubules)