Quiz 3 part 2

Question 1

What are the 4 different types of spina bifida

Answer 1

1. Occulta
2. w/ meningocele
3. w/ meningomyelocele
4. w/ rachischisis

Question 2

What type of spina bifida is the best for patients to have?

Answer 2

Occulta - single vertebra fails to fuse

- usually has a tuft of hair and dimpling on the back.

Question 3

What type of spina bifida is the worst for patients to have?

Answer 3

w/ rachischisis - nerve roots extend out of skin (cauda equina)
- no sac, flat against skin

Question 4

Define Spina bifida Occulta

Answer 4

Single vertebra fails to fuse - usually has a tuft of hair and dimpling on the back
- Underlying neural tube differentiates normally and does not protrude from the vertebral canal.

Question 5

Define Spina bifida w/ meningocele

Answer 5

Lumbo-sacral sac, no nerve roots exposed

- When meninges only protrude through the opening, covered by a skin-lined sac

Question 6

Define Spina bifida w/ meningomyelocele

Answer 6

Dura and arachnoid, as well as neural tissue protrudes from vertebral canal, forming a bulge through the opening.
A sac covered with skin is visible on surface with trapped nerve roots, particularly those of the cauda equina to be trapped in subcutaneous scar tissue

Question 7

Define Spina bifida w/ rachischisis

Answer 7

Occurs when the posterior neuropore of the neural tube fails to close during week 4

• Presents clinically as an open neural tube that lies on the surface of the back, with visible spinal cord
• Nerve roots extend out of skin (cauda equina), no sac, flat against the skin

Question 8

What can mothers take to help avoid neural tube defects?

Answer 8

Folic acid

Question 9

Describe simply Spina Bifida in general

Answer 9

Lower neuropore does not close

• Most common NT defect
• Posterior vertebral arches fail to fuse

Question 10

Is there neurologic dysfunction seen in meningomyelocele?

Answer 10

Yes, neurologic dysfunction is seen

• Clinical defects referable to motor and sensory function in lower extremities
• Disturbances of bowel and bladder control

Question 11

Is there neurologic dysfunction seen in occulta?

Answer 11

No, neurologic symptoms are absent

Question 12

Is there neurologic dysfunction seen in rachischisis

Answer 12

Yes, Causes paralysis from the level of the defect caudally

Question 13

Define Meningocele

Answer 13

A diverticular extension of meninges through a defect in the upper cervical, lumbar or occipital region

• Diverticulum presents as a fluid filled sac of meninges and CSF
• Lateral aspects of the sac are characteristically covered by skin, whereas the apex is usually ulcerated.

Question 14

Define Meningoencephalocele

Answer 14

Diverticulum of malformed CNS tissue and flattened arachnoid extending through a defect in the posterior cranium
- Constituents of sac are the same as for meningocele

Question 15

What is a meningohydroencephalocele?

Answer 15

If the ventricular cistern as well as the brain and meninges protrude from the unossified gap in the skull, the condition is termed meningohydroencephalocele.

Question 16

something about meningomyelocele so you can differentiate between meningoencephalocele….

Answer 16

Answer here

Question 17

What has the spinal cord appearing as a flattened, ribbon-like structure?

Answer 17

Meningomyelocele

Question 18

What is the main difference between meningomyelocele and meningoencephalocele?

Answer 18

Meningomyelocele??

Meningoencephalocele –> Brain and meninges protrude

Question 19

Genetically, what is Klinefelter’s syndrome?

Answer 19

47XXY

• 2 or more X chromosomes, 1 or more Y chromosomes from non-disjunction
• Rarely diagnosed before puberty because testicular abnormality does not develop until early teens

Question 20

Features of Klinefelter’s syndrome (47XXY)

a lot of answers on this one…

Answer 20

• Lack of bear and body hair, gynecomastia, hips are female like, lack of pubic hair, testicular atrophy, infertility, long legs/arms
  1. Eunuchoid body habitus
  2. Elongated body
  3. Small atrophic testes and small penis
  4. Lack of secondary sex characteristics: deep voice, beard
  5. Mean IQ is lower but retardation is uncommon

Question 21

T or F, Mean IQ is normal and retardation is uncommon in Klinefelter’s syndrome

Answer 21

False, Mean IQ is lower but retardation is uncommon

Question 22

What is the most common sex chromosome abnormality in females?

Answer 22

Turner’s syndrome

- Characterized by hypogonadism in pheotypic females

Question 23

Define genetically Turner’s syndrome

Answer 23

complete or partial monosomy of X-chromosome, most common = 45 XO

Question 24

Features of Turner’s syndrome

a lot of answers on this one, just learn generalities

Answer 24

Short stature, amenorrhea, edema b/c of lymph stasis in hands and feet, heart shaped face, coarctation of aorta, cubitus valgus, streak ovaries, infertility, broad chest and widely spaced nipples, webbing of neck b/c distended lymph channels (cystic hygroma), low posterior hair line, pigmented nevi of skin

Question 25

T or F, 50% of patiens with turner's syndrome develop autoantibodies against thyroid gland

Answer 25

True

Question 26

What is the most important cause of primary amenorrhea?

Answer 26

Turner's syndrome

Question 27

Do turner's syndrome patients have normal mental status?

Answer 27

yes, Normal mental status and few exhibit mental retardation

Question 28

What happens to the ovaries in Turner's syndrome

Answer 28

Fetal ovaries develop normally early in embryogenesis but absence of second X chromosome leads to accelerated loss of oocytes which is complete by age 2 (menopause occurs before menarche)

Question 29

Describe what happens at puberty in Turner's syndrome

Answer 29

There is failure to develop secondary sex characteristics: - Genitalia is infertile - Inadequate breast development - Little pubic hair - Atrophic ovaries - Fibrous strands (streak ovaries)

Question 30

Is Klinefelter's syndrome more commonly originated from maternal or paternal side?

Answer 30

50/50 chance of either - The classic pattern is associated with a 47XXY karotype, and comprises 85% of cases. This pattern results from both maternal and paternal nondisjunction (about 50/50) during meiotic division

Question 31

Which syndrome is best defined as male hypogonadism?

Answer 31

Klinefelter syndrome

Question 32

What is the single most important cause of increased mortality in children with Turner's syndrome

Answer 32

Cardiovascular abnormalities