Congenital/Pediatric Diseases

Question 1

For malformation, an error of morphogenesis, another word for intrinsically abnormal development processes that are caused by genetic, environmental, or multifactorial factors is

Answer 1

Primary errors of morphogenesis

Question 2

A cause of malformation includes genetic diseases like (2)…

Answer 2

Down Syndrome

Turner/Klinefelter Syndrome

Question 3

Environmental causes of malformation include… (2)

Answer 3

Viruses (rubella)

Drugs

Question 4

Drugs which cause malformation include:

This drug which causes limb malformations, and the symptoms of it depend upon timing of exposure

This drug which causes FAS

This activity which causes low birth weight and SIDS

Answer 4

Thalidomide

Alcohol

Smoking

Question 5

These malformations are multifactorial in nature (environment + genetic causes)

Answer 5

Cleft palate/lip, neural tube defects

Question 6

This malformation caused by drugs leads to low birth weight, heart septum defects, short memory spans, impulsive behavior, and is the #1 cause of mental impairment

Answer 6

FAS

Question 7

This neural tube defect causes the cranial vault to be absent

Answer 7

Anencephaly

Question 8

This neural tube defect causes brain protrusion

Answer 8

Encephalocele

Question 9

This neural tube defect causes the spinal cord not to close

Answer 9

Spina Bifida

Question 10

This is an extrinsic disurbance in morphogenesis, the secondary DESTRUCTION of an organ or body region that was previously normal in development

Answer 10

Disruption

Question 11

This is a disruption where the amnion is ruptured, bands form and compress/attach to parts of the developing fetus

Answer 11

Amniotic bands

Question 12

The environmental causes of amniotic bands:

Answer 12

Viral infections, drugs, radiation

Question 13

These are extrinsic disturbances of development, caused by uterine constraint at about 35-38 weeks of gestation (fetus outgrows uterus

High risk with small uterus, leiomyomas, multiple fetuses

Answer 13

Deformations (look at 2 figures in presentation showing disruption vs deformation in a flow chart and table)

Question 14

This error in morphogenesis is multiple congenital anomalies resulting from secondary effects of a single error in organogenesis

It may be initiated by malformation, deformation, or disruption

Answer 14

Sequence

Question 15

This is an example of a sequence error in morphogenesis, due to amnion rupture/maternal hypertension/fetal renal agenesis, decreased amniotic fluid (oligohydrmanios) results in flattened faces, dislocated hips, and incomplete chest and lung growth

Answer 15

Potter (oligohydramnios) Sequence

Question 16

This error in morphogenesis has a single cause (viral infection/chromosomal abnormality) that simultaneously affects several tissues

Answer 16

Malformation Syndrome

Question 17

Two examples of malformation syndromes include…

Answer 17

Down Syndrome and Prader-Willi syndrome

Question 18

For pathogenesis, the 1st 9 weeks of pregnancy are termed what?

Answer 18

The Embryonic Period

Question 19

The early embryonic period is from what weeks?

Answer 19

Weeks 1-3

Question 20

The weeks of the embryonic period that are very susceptible to teratogens are…

Answer 20

Weeks 3-9 (organs form during weeks 4-5)

Question 21

The Fetal Period occurs during what weeks of development?

Answer 21

10 weeks - birth

Question 22

During this period of development, the fetus is susceptible to growth retardation/injury to already formed organs

Answer 22

Fetal Period

Question 23

This is defined as the sudden death of an infant under 1 year of age while asleep (crib death). It is of unknown cause, and is therefore a disease of exclusion. It is multifactorial

(look at factors in slide)

Answer 23

SIDS

Question 24

This is the most common tumor of infancy, it is present at birth or shortly thereafter

Answer 24

Hemangiomas

Question 25

60% of hemangiomas in infants are located in what region?

Answer 25

Head and neck

Question 26

Hemangiomas are a benign tumor of blood vessels:

This type occur in organs and sometimes skin

This type occurs in skin and oral mucosa, and the strawberry type usually regresses at birth

Answer 26

Cavernous Hemangioma

Capillary Hemangioma

Question 27

Hemangiomas are elevated red/blue masses, large flat lesions are called

Answer 27

Port wine stains

Question 28

This is a benign tumor of dilated lymph vessels. It is present at birth or acquired. They increase in size after birth, and are present where there are lymph nodes (skin, deep regions of the neck, axilla, mediastinum, and retroperitoneum

Answer 28

Lymphangioma

Question 29

Under the microscope, these types of tumors look like small, round, blue cell tumors and originate from embryonic cells

Answer 29

Malignant Tumors

Question 30

This is the second most common solid malignancy of childhood after brain tumors. Most are sporadic but 1-2% are familial.

In situ (non-invasive) lesions are 40% more common than overt tumors and most regress

Answer 30

Neuroblastoma

Question 31

Neuroblastomas arise from what?

Answer 31

Primordial neural crest cells

Question 32

Most neuroblastomas arise in the _____, others in the paravertebral region of the abdomen

In situ lesions are 40% more common than overt tumors and most regress

Answer 32

Adrenal Medulla

Question 33

Neuroblastomas histologically are primitive appearing cells with dark nuclei, poorly defined cells growing in solid sheets, show mitosis, and these rosettes (pink homogenous areas)

Answer 33

Homer-Wright Rosettes

Question 34

The outlook for children younger than 18 months with neuroblastomas is more favorable than older children. Amplification of the ______ oncogene has a profound effect, giving poor prognosis to those cases (25%)

Overexpression of _____ has adverse prognostic factors

Answer 34

NMYC Oncogene

Telomerase

Question 35

This malignant tumor in infants is an intraocular malignancy

Answer 35

Retinblastoma

Question 36

Retinoblastomas have a 40% mutation in this gene (heritable)

Answer 36

RB1 gene

Question 37

Retinoblastomas are neural in origin, and can be both bilateral (familial) or unilateral (sporadic)

Familial cases have increased chance of _____

Answer 37

Osteosarcoma

Question 38

The clinical presentation of retinoblastom is that it is present at birth, but presents at about age…

Patient will have poor vision, this term for lazy eye, a whitish hue to the pupil (cat’s eye reflex), and pain and tenderness

Answer 38

2

Strabismus

Question 39

Retinoblastomas have a high survival rate with treatment, but the familial type has an increased chance of…

Answer 39

Osteosarcoma

Question 40

This malignant tumor is a tumor of the kidney. It presents as an abdominal mass with abdominal pain and has very good prognosis

It occurs at what years of age

Answer 40

Wilm’s Tumor (Nephroblastoma)

2-5 years

Question 41

Nephroblastoma causes an increased risk in 3 syndromes, including WAGR, DDS, and BWS

How do they present?

What is their prognosis?

Answer 41

Beckwith Wiedemann syndrome

Abdominal masses

Very Good

Question 42

Look at diagram illustrating when certain organs develop!

Answer 42

!