Neuro/Developmental (6%)

Question 1

What congenital heart disease may be present in a patient with Down Syndrome?

Answer 1

Atrioventricular septal defect

ventricular septal defect, atrial septal defect, tetralogy of Fallot, patent ductus arteriosus

Question 2

Tx for absence sz?

Tx for Grand mal sz?

Tx for status epilepticus?

Tx for febrile myoclonus?

Answer 2

Tx for absence sz: Ethosuximide

Tx for Grand mal sz: Valproic acid, phenytoin, carbamazepine, lamotrigine

Tx for status epilepticus: Lorazepam or Diazepam, then phenytoin, then phenobarbital

Tx for febrile myoclonus: Phenobarbital

Question 3

What will provide a definitive dx of Turner’s syndrome?

Answer 3

Karyotyping

45, XO, mosaicism, or X chromosome abnormalities

^{High serum FSH & LH levels}

Question 4

What does the term “mosaicism” mean in reference to Turner’s syndrome?

Answer 4

Some cells have a combination of X monosomy (45,XO - missing X chromosome), some cells that are normal (46,XX), cells with partial monosomies (X/abnormal X), or cells that have a Y chromosome (46,XY).

Question 5

What is the recommended management of Turner’s Syndrome?

Answer 5

GH (may increase final height)

Estrogen/progesterone replacement to cause pubertal development

Question 6

What is the Simian crease? With what d/o is it associated with?

Answer 6

Palmar crease seen in pts with Down Syndrome

Question 7

What are the two types of meningitis?

Answer 7

Bacterial meningitis: bacterial infection of the meninges

Aseptic meningitis: NOT caused by pyogenic bacteria, includes viral fungal and TB (viral is often referred to as aseptic)

Question 8

What are the two types of partial sz?

The four different types of generalized sz?

What is the condition called when a pt suffers from repeated generalized sz w/o recovery >30 minutes?

Answer 8

Partial: Simple Partial, Complex partial (temporal lobe)

Generalized (both hemispheres involved): Absence (petit mal), Tonic Clonic (grand mal), Myoclonus, Atonic

Status Epilepticus

Question 10

What are some PE findings one might expect to see in a pt with Turner’s syndrome?

Answer 10

short stature, webbed neck, prominent ears, low posterior hairline, broad chest with hypoplastic widely-spaced nipples, (congenital lymphedema seen in neonates), short 4th metacarpals, high-arched palate, nail dysplasia. May have hearing loss

Question 11

Tx for viral meningitis?

Answer 11

Supportive care (antipyretics, IV fluids, antiemetics)

Question 12

What cardiac conditions might one expect to find in a pt with Turner’s Syndrome?

Answer 12

coarctation of the aorta (30%), mitral valve prolapse, bicuspid aortic valves, aortic dissection, HTN

Question 13

What are the most common pathogens and their respective abx txs? for acute bacterial meningitis in the following age groups?

<1 month

1 month-18 y/o

18 y/o-50 y/o

>50 y/o

Answer 13

^{<em>See image below</em>}

Question 14

What shape of kidney might a pt with Turner’s Syndrome have?

Answer 14

Horseshoe kidney

Question 15

What are some examples of meningeal sx?

Answer 15

headache/nuchal rigidity (stiff neck), photosensitivity, nausea/vomiting

Question 16

What is a (+) Kernig’s sign?

(+) Brudzinski’s?

Answer 16

(+) Kernig’s: Inability to straighten knee with hip flexion

(+) Brudzinski’s: Neck flexion produces hip/knee flexion

Question 17

What is the recommended abx for post exposure prophylaxis against acute bacterial meningitis?

Answer 17

Ciprofloxacin 500mg PO x1 dose

Question 18

LP performed on a pt with viral meningitis will show what two findings?

Answer 18

Lymphocytosis and normal glucose

Question 19

Down Syndrome is otherwise referred to as Trisomy ____

Answer 19

Trisomy 21

as there are three copies of chromosome 21, or three copies of a region of the long arm of chromosome 21

Question 20

What viral family is the most common cause of viral meningitis?

Viral meningitis is commonly associated with (abnormal/normal) cerebral function

Answer 20

Enterovirus family (i.e. Coxsackie, Echovirus)

Normal cerebral fxn

Question 21

Teething usually begins around what age?

When is the normal range for teeth to start coming in?

By the time a child is _____, he/she will have all 20 primary teeth

What teeth usually come in first?

Answer 21

Around 6 months of age

It is normal for teething to start at any time between 3-12 months

~ 3 y/o

Lower front teeth usually come in first

Question 22

What are the hallmarks of Turner’s syndrome?

Answer 22

Hypogonadism: primary amenorrhea or early ovarian failure, failure to develop secondary sex characteristics (absence of breasts)

Short stature: with normal GH levels

Webbed neck, edema, low hairline, low set ears, widely spaced nipples

Question 23

What are febrile sz?

In what age group are they seen most commonly?

How long do they last for?

Answer 23

Febrile seizures are convulsions that can happen during a fever

They affect kids 3 months to 6 years old, and are most common in toddlers 12–18 months old

The sz usually last for a few minutes and are accompanied by a fever above 100.4°F (38°C)

Question 24

In neonates with Down Syndrome, which reflex is observed to be “poor”?

Answer 24

Moro reflex

Question 25

What is Turner’s Syndrome due to?

Answer 25

Group of X chromosome abnormalities

Females with an absent or nonfunctional X sex chromosome

Question 26

In simple partial sz, consciousness is fully maintained or impaired?

In complex partial sz, consciousness is fully maintained or impaired?

Answer 26

fully maintained

impaired

Question 27

If glucose is normal, then (viral/bacterial) meningitis is most likely

If WBC is predominantly neutrophils, then (viral/bacterial) is more likely

Answer 27

viral

bacterial

Question 28

What are Brushfield spots? With what d/o are they associated with?

Answer 28

Brushfield spots: white/gray/brown spots in the peripheral iris

Down Syndrome

Question 29

If a pt is high risk (FND, papilledema) and suspected to have acute bacterial meningitis, what should be done before LP to r/o mass effect?

Answer 29

Head CT

Question 30

How do you definitively diagnose a pt with acute bacterial meningitis?

Should you wait for dx prior to administering abx?

Answer 30

LP to examine the CSF

high 100-10,000 PMN (neutrophils), low glucose <45, increased total protein, increased CSF pressure

DO NOT wait for lumbar puncture to start empiric abx