Childhood Diseases IV

Question 1

What is the second leading cause of death from disease in aged 5-14? The first leading cause in injuries

Answer 1

Malignancy

Question 2

Childhood malignancy has origins from __________, nervous, renal, soft tissues, and bone.

Answer 2

hematopoietic

Question 3

Childhood malignancy has a relationship with _________ and has a tendency of _________.

Answer 3

abnormal development (teratogenesis)

spontaneous regression

Question 4

___________ is a malignant tumor of primitive sympathetic cells.

Answer 4

Neuroblastoma

Question 5

Where do neuroblastomas often occur?

Answer 5

Adrenal medulla

Sympathetic ganglia

Question 6

Neuroblastomas account for _______ of all childhood malignancy.

Answer 6

10%

Question 7

What oncogene is associated with neuroblastomas?

Answer 7

N-myc

Question 8

What is the clinical presentation of neuroblastoma in a child less than 2 years old? x3

Answer 8

Abdomina mass
Fever
Weight Loss

Question 9

What is the clinical presentation of a neuroblastoma in a child greater than 2 years old? x4

Answer 9

GI complaints
Ascites
Respiratory Distress
Bone pain

Question 10

________ and ________ indicate metastasis to periorbital region for neuroblastomas.

Answer 10

Proptosis - forward displacement of eye in orbit

Periorbital ecchymosis

Question 11

In neonates, disseminated neuroblastoma may present with multiple cutaneous metastases causing deep _______

Answer 11

blue discoloration of the skin

Question 12

How do you diagnose neuroblastoma? x4

Answer 12

1. Blood - increased catecholamines
2. Urine - increased catecholamine metabolites and vanillymandelic acid (VMA) and homovanillic acid (HVA)
3. Blood neuron-specific enolase (NSE)
4. Tumor/Bone marrow biopsy (NSE staining by IHC)

Question 13

_________ is the most common solid congenital malignancy.

Answer 13

Congenital neuroblastoma

Question 14

What is the presentation of a “Blueberry Muffin Baby”?

Answer 14

Large adrenal neuroblastoma
Distended abdomen
Bluish cutaneous nodule of tumor

Question 15

What do we see under the microscope with neuroblastoma?

Answer 15

Small round blue cells
Rosette structure
Dense core neurosecretory granules - within catecholamine

Question 16

________ is the most common primary malignant tumor of the kidney in children and the 4th most common pediatric malignancy in US.

Answer 16

Wilm’s Tumor

Question 17

What is the incidence of Wilms tumor?

Answer 17

1/10,000

Question 18

For Wilms tumor, _____ of tumors occur <10 years and ______ of tumors involve both kidneys.

Answer 18

95%

5-10%

Question 19

Wilms tumor is associated with _______ and ______ inactivation and with __________

Answer 19

WT1
WT2
congenital malformations

Question 20

What is the risk of having Wilms tumor with WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wiedemann syndrome?

Answer 20

WAGR syndrome: 33% risk

Denys-Drash syndrome: 90% risk

Beckwith-Wiedemann syndrome: increased risk

Question 21

What is the mutation and symptoms of WAGR syndrome?

Answer 21

Germline deletion 11p13

Aniridia (no iris)
Genital anomalies
Retardation

Question 22

What is the mutation and symptoms of Denys-Drash syndrome?

Answer 22

WT1 inactivation

Early onset of nephropathy
Gonadal dysgenesis
Gonadoblastoma

Question 23

What is the mutation and symptoms of Beckwith-Wiedemann syndrome?

Answer 23

WT2 inactivation

Organomegaly
Macroglossia
Adrenal cytomegaly

Question 24

What will a Wilms Tumor in the kidney look like?

Answer 24

Tan to gray color
Well circumscribed

Question 25

What will a Wilms tumor look like under the microscope?

Answer 25

Tightly packed blue cells consistent with blastomal component Interspersed primitive tubules - epithelial component

Question 26

What is the MAIN clinical presentation of Wilms tumor?

Answer 26

Abdominal mass

Question 27

What are the clinical presentations of Wilms Tumor? x5

Answer 27

1. Abdominal mass 2. Hematouria 3. Intestinal obstruction 4. Fever 5. Hypertension

Question 28

How do you diagnose a Wilms tumor?

Answer 28

Determine is tumor kidney/adrenal Evaluate if contralateral kidney is involved Chest Xray, bone scan, MRI to evaluate if metastasize in LN, lung, liver, and bone

Question 29

Prognosis of a wilms tumor with _________ and chemotherapy is very good. 2 year survival rates are as high as 90% even for tumors that spread beyond the kidney.

Answer 29

nephrectomy

Question 30

What is the most common sarcoma of childhood?

Answer 30

Rhabdomyosarcoma

Question 31

Rhabdomyosarcom accounts for _____ of childhood malignancy. Peak incidence in _________ age group

Answer 31

5-8% 1-5 year age group

Question 32

What are the most common locations for Rhabdomyosarcoma from greatest to least? x4

Answer 32

Head and neck, around eyes GU tract Extremities Trunk - chest and lungs

Question 33

What does a rhabdomyosarcoma contain?

Answer 33

sarcomeres

Question 34

What are the three subtypes of RMS?

Answer 34

1. Embryonal RMS - most common, best prognosis 2. Alveolar RMS 3. Pleomorphic RMS

Question 35

_______ is a variant of Embryonal RMS. It develops in the walls of hollow, mucosal lined structure such as the _______, _______, _______, and ________. Prognosis is the best.

Answer 35

Sarcoma botryoides nasopharynx common bile duct bladder vagina

Question 36

Pleomorphic RMS is predominantly in ______ and prognosis is the ________

Answer 36

adults worst

Question 37

What does embryonal RMS look like under a microscope?

Answer 37

Malignant cells ranging from primitive and round to spindled eosinophilic cell

Question 38

A tumor is traversed by network of fibrous septae that divide the cells into clusters, creating a crude resemblance of alveoli. Cells in center of aggregates are discohesive, while those at periphery adhere to the septae. Tumor cells are uniform round with little cytoplasm. What is this cancer?

Answer 38

Alveolar RMS

Question 39

What does pleomorphic RMS look like under a microscope?

Answer 39

Numerous large, multinucleated, bizarre eosinophilic tumor cells.

Question 40

Staining for _______ by IHC is necessary to confirm rhabdomyoblastic differentiation since it can resemble other pleomorphic sarcomas

Answer 40

myogenin

Question 41

What is the treatment and prognosis for RMS?

Answer 41

Treatment is combo of surgery and chemo w/ or w/o radiation. Best prognosis is for embryonal Pleomorphic and alveolar are the more aggressive

Question 42

_______ of children diagnosed with RMS survive 5 years/

Answer 42

50%

Question 43

________ is a pattern of physical and mental defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy.

Answer 43

Fetal Alcohol Syndrome (FAS)

Question 44

What 5 features does Fetal Alcohol Syndrome cause?

Answer 44

1. Growth retardation 2. Microcephaly 3. Short palpebral fissures 4. Maxillary hypoplasia 5. Atrial septal defect

Question 45

What is a neural tube defect?

Answer 45

An opening in the spinal cord or brain that occurs very early in human development

Question 46

Supplementing the maternal diet with _______ prior to and during pregnancy can reduce the incidence of neural tube defects.

Answer 46

folic acid

Question 47

How do we screen for neural tube defects?

Answer 47

Maternal Serum AFP

Question 48

_______ is produced by type II alveolar cells. It is a mixture of proteins and lipid, ______ and _______ being two of them.

Answer 48

Surfactant Lecithin Sphingomyelin

Question 49

The ___________ is a test of fetal amniotic fluid to assess for fetal lung maturity.

Answer 49

Lecithin-Sphingomyelin Ratio

Question 50

L/S ration >/= 2 indicates ______

Answer 50

fetal lung maturity and a low risk of neonatal RDS

Question 51

L/S ration <1.5 indicates ________

Answer 51

high risk of neonatal RDS