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STEP2 > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

At what point should an infant have regained her birthweight after initial weight loss?

What about at 4 months, 12 months, and 24 months?

A

2 weeks

double by 4 months
triples at 12 months
quaduples at 24 months

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2
Q

How much weight should a child gain per year?

A

from 2-13 years, weight gain is about 5 pounds per year

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3
Q

inadequate weight gain

A 
poor food intake
chronic vomiting or diarrhea
malabsorption
neoplasm
congenital diseases
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4
Q

failure to thrive

A

weight

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5
Q

Complications of obesity

A 
rapid growth
sleep apnea
HTN
SCFE
precocious puberty
increased incidence of skin infections
social dysfunction
earlier development of 2DM
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6
Q

Height, or birth length at 1 year, 4 years, 13 years

A

1 year: increased by 50%
4 years: double
13 years: triple
2-13year: 2 inches/year

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7
Q

Greater-than-normal height

A 
familial tall stature
precocious puberty
gigantism
hyperthyroidism
klinefelter syndrome
Marfan syndrome
obesity
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8
Q

lower-than-normal height

A 
familial short stature
neglect
constitutional growth delay
asthma
CF
TUrner
IBD
immunologic disease
growth hormone deficiency
hypothyroidism
glucocorticoid excess
skeletal dysplasia
neoplasm
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9
Q

Macrocephaly

A

Cerebral metabolic diseases:

  • Tay-Sachs
  • Maple syrup urine disease

Neurocutaneous syndromes

  • neurofibromatosis
  • tuberous sclerosis
Hydrocephalus
increased intracranial pressure
skeletal dysplasia
acromegaly
intracranial hemorrhage
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10
Q

Microcephaly

A

fetal toxin exposure- fetal alcohol syndrome

chromosomal trisomies
congenital infections
cranial anatomic abnormalities
metabolic disorders
neural tube defects
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11
Q

how to address growth defects

A

treat underlying disorder
intervention in abuse cases
parent education
thorough family history

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12
Q

developmental milestones during childhood: 2 months

A

social smile
lefts head 45 degrees
eyes follow object to midline
isn’t talking but can coo

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13
Q

developmental milestones during childhood: 4 months

A 
laughs
is aware of caregiver
localizes sound
lifts head to 90 degrees when on stomach
fine motor- can follow an object with eyes past midline
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14
Q

developmental milestones during childhood: 6 months

A 
differentiates parents for others
stranger anxiety
grasps objects, or rakes objects toward self
attempts to feed self
babbles
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15
Q

developmental milestones during childhood: 9 months

A

interactive games
separation anxiety
crawling, pulls to stand

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16
Q

developmental milestones during childhood: 12 months

A

taking first steps
pincer grasp
makes 2-block tower
5-10 word vocabulary

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17
Q

developmental milestones during childhood: 18 months

A 
parallel play
walks well
walks backward
tower of 4 blocks
can use a cup and spoon
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18
Q

developmental milestones during childhood: 2 years

A

dresses self with help
runs
climbs stairs
gender identity around 2-3 years old (around time of potty training)

6 block tower
50-75 words; 3-word sentences

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19
Q

developmental milestones during childhood: 3 years

A

magical thinking
climbs/descends stairs
makes a tower of 9 blocks
draws a circle

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20
Q

developmental milestones during childhood: 4 years

A 
plays with others
hop on 2 foot
draws a line image
and a closed figure (triangle, square)
250 or more words
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21
Q

developmental milestones during childhood: 6 years

A

skips

can draw a stick figure person

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22
Q

When do infant reflexes disappear?

A

by 6 months

after this, suggestive of CNS abnormalities esp in context of
perinatal complications

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23
Q

rooting reflex

A

rubbing the cheek causes turning the cheek towards the stim

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24
Q

Tonic reflex

A

face turns, arm on face side extends and other arm flexes

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25
Q

placing reflex

A

rubbing dorsum of foot causes that foot to step up

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26
Q

Anticipatory guidance:

newborn to 1 week

A

sleep on back to prevent SIDS
“back to sleep” campaign

baby does not need to bath every day

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27
Q

Anticipatory guidance:

4-6 months

A

begin feeding solid foods

usually first food is iron- fortified cereal

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28
Q

Anticipatory guidance:

12 months

A

can introduce cow’s milk

before 12 months, hemorrhage in the gut is more likely

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29
Q

When do kids start seeing the dentist?

A

2-3 yo
if cavities have begun, then go to the dentist with six months of first tooth eruption
unless there are risk factors (brushing less than once a day, caregivers with lots of cavities, etc.)

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30
Q

Anticipatory guidance:

2-3YO

A

can start seeing dentist

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31
Q

Anticipatory guidance:

3yo

A

regular sleep schedule

television limitation

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32
Q

when do you see kids for wellchilld visits?

A 
2 days
2 weeks
1 month
2 months
4 months
6 months

every 3 months from 6-18 months

every year after 2 years old

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33
Q

how many DTaP vaccines does a kid get?

A

5

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34
Q

how many Hib vaccines does a kid get?

A

4

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35
Q

how many PCV vaccines does a kid get?

A

4

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36
Q

When do you give HepB vaccine?

A

at birth

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37
Q

When do you give Tdap vaccine?

A

11-12 yo

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38
Q

When do you give meningococcal vaccine (MCV4)

A

at 11-12 years, with a booster at 16yo

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39
Q

when do you give HPV vaccines? there are 3

A

11-12 yo to males and females both

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40
Q

when do you give flu vaccines?

A

annually

>6 months

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41
Q

appropriate use of car seats

A
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42
Q

How many calories are present in an ounce of breast milk? How many calories are present in an ounce of formula?

A

20 kcal/ounce

breast milk is designed to be this way

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43
Q

What are the caloric needs for an infant younger than 6 months?

A

100-120 kcal/kg/day

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44
Q

What work-up should be performed on a newborn with a single umbilical arter?

A

occurs in about 0.5% of births and 20-30% of these infants have major structural anomalias

Work this up with renal ultrasound, as 7% will have clinically significant (but asymptomatic) renal anomalies

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45
Q

What are the most common problems that arise in premature infants?

A 
respiratory distress syndrome (RDS)
hypoglycemia
persistent PDA
infection/sepsis
retinopathy of prematurity
intraventricular hemorrhage
necrotizing enterocolitis

in a NICU, these are the things you would try to treat and prevent

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46
Q

caput succedaneum

A

edema in the scalp

crosses the midline and diminishes after a few days

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47
Q

cephalohematoma

A

subperiosteal hemorrhage
edema does not cross suture lines
resolves in weeks to months

more likely with vacuum deliveries, increased risk of jaundice as blood breaks down

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48
Q

bloody vaginal discharge in a the first few days of life

A

withdrawl of hormones leads to menstruation. there is nothing to do about this

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49
Q

cutis marmorata

A

spider webbing or marbling of the skin

not concerning

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50
Q

erythema toxicum neonatorum

A

2-3 mm yellow pustule with red base

similar in appearance to a whitehead

arising in the first 24-72 hours of life, microscopic examination of the pustular contents (not necessarily for diagnosis), reveals numerous eosinophils, that are usually gone by 3 weeks.

Tell the parents to leave this alone

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51
Q

Harlequin color change

A

intense reddening of gravity- dependent side and blanching of the nondependent side with a line of demarcation between the two, lasts a few seconds-minutes, affects 10% of newborns (more common in newborns), most common in first few days of life, may be due to immaturity of autonomic innervation to skin vessels. Completely benign and will resolve in days to 3 weeks.

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52
Q

macular stains (stork bites)

A

permanent vascular malformations, commonly at the nape of the neck, but also at upper eyelids and middle forehead

Benign but permanent.

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53
Q

Milia (or miliaria)

A

sweat accumulated beneath eccrine sweat ducts

obstructed by keritin at stratum corneum

usually develops in the first week after birth, with excess clothing or fever

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54
Q

Mongolian spots

A

benign,

will fade in 1-2 years

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55
Q

Neonatal acne

A

20% of infants
onset around 3 weeks of age
mild lesions should be left alone and will resolve in about 4 months

severe inflammation managed with retinoids, or benzoyl peroxide

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56
Q

infantile acne

A

different than neonatal acne, onset usually at 3-4 months of age, yellow papules around nose and cheeks, usually clear by age 1, but may persis until age 3. Severe inflammation can be managed with benzoyl peroxide or topical retinoids

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57
Q

transient neonatal pustular melanosis

A

Superficial pustules overlying hyperpigmented macules.

Tell parents to leave these alone

58
Q

what medications can be used to treat thrush in infants?

A

you can’t swab it off (unlike milk)

Treat:
nystatin oral suspension for a couple of weeks

59
Q

What are the risk factors for sudden infant death syndrome (SIDS)?

A

Usually occurs at 2-4 months old
Usually occurs while infant is sleeping

Maternal risk factors: low socioeconomic status, age

60
Q

Anterior fontanelle- when should it close? what would you suspect if it did not close?

A

closed in 1% by age 3 months
38% by 12 months
96% by 24 months

If closure is delayed, consider Down syndrome, achondroplasia, rickets, congenital hypothyroidism, and increased intracranial pressure

If closure

61
Q

Adolescence

A

a period of rapid, physical, psychosocial, and sexual growth and maturity leading into adulthood

from 10-19 yo

before this, would be considered precocious puberty

62
Q

Early adolescence: age 10-13

psychosocial

A

concrete thinking

early independent behavior

63
Q

middle adolescence: 14-16

psychosocial

A

emergency of sexuality
increased desire for independence
self- absorption
development of abstract thought

64
Q

late adolescence (age 17-21)

A

increased self awareness
increased confidence in own abilities
open relationship with parents
cognitive maturity

65
Q

Adolescents are more likely to exhibit…

A

risk-taking behavior:

  • drug use
  • unprotected sexual activity
  • violence

accidents are the number cause of death in teenagers

depression
suicidal ideation
homicide
eating disorders

66
Q

What should you ask an adolescent?

A

Stress right to confidentiality

SHADESSS

Strengths (you are an advocate)
Home environment
Activities
Drugs and alcohol
Education and employment
Sexual activity
Suicide (or depression)
Safety

focus the exam on derm issues, sexual maturation,
height and weight growth, and examine boys for scrotal masses, HTN, HLD, obesity, DM

67
Q

2-3 mm yellow pustule with red base, looks like a whitehead, arising in the first 24-72 hours, microscopic examination of the pustular contents (not necessary for diagnosis) reveals numerous eosinophils, usually gone by 3 weeks

A

erythema toxicum neonatorum

68
Q

spider-webbing/marbling of skin

A

cutis marmorata

69
Q

intense gravity- dependant reddening and blanching of nondependent side with a line of demarcation lasting a few seconds- minutes

A

Harlequin color change

70
Q

Due to accumulation of sweat beneath eccrine sweat ducts that are obstructed by keratin at the stratum corneum

A

milia

71
Q

What do you give to enhance fetal lung maturity? How long do you give it for? at what age do you no longer need to give it?

A

Corticosteroids:
betamethasone
dexamethasone

given for 48 hours

recommended up to 34 weeks gestation

72
Q

clinical features of measels infection?

A

Prodrome for 2-3 days: fever, malaise, anorexia, and 3 C’s (cough, coryza, conjunctivitis)

coryza is nasal congestion and inflammation

Then, after 1-2 days you’ll see Koplik spots on the buccal mucosa and palate, that appear 48 hours before the rash

Rash begins 5 days after onset of prodrome, starting at the head and spreading to the feet, lasts 4-5 days, then resolves from the head down

Treat: supportive therapy and vitamin A
ribavirin

73
Q

What is the treatment for measles in detail?

A 
Supportive therapy (antipyretics, fluids)
Monitoring and treating bacterial superinfections such as pneumonia or otitis media

Vitamin A
-100,000 IU PO x1 in 6-12 mo
200,000 IU PO x1 if older than 12 months

  • WHO recommends vitamin A to all children with measles in areas where vitamin A deficiency is prevalent and measles mortality exceeds 1%
  • AAP recommends vitamin A given as above to children 6 months-12 years hospitalized for measles or its complications, or if immunodeficient or high likelihood of vitamin A deficiency (opthalmoplegic evidence, intestinal malabsorption, malnutrition or recent immigration from an area with high measles mortality)

Ribavirin is not well studied and not currently standard of care for measles, despite that it harms measles virus in vitro

74
Q

What are the classic features of rubella virus (German measles)?

A
  • low-grade fever, lymphadenopathy, and rash
  • prodromal malaise, fever, anorexia for 1-5 days prior to rash
  • lymphadenopathy involving suboccipital and posterior cervical nodes

The rash, about 5 days, is erythematous, tender, maculopapular,
unlike measles, it does not darken or coalesce

The fever is milder and shorter (only 1 day) than measles

polyarthritis may be seen for up to a month in women and adolscents

75
Q

What are the characteristic features of Coxsackie hand, foot, and mouth disease

A
  • constitutional fever and anorexia
  • oral vesicles on the buccal mucosa and tongue
  • small, tender, maculopapular/vesicular rash on the hands, feet, and sometimes buttocks

duration is typically 3-5 days without complications

76
Q

what are the signs and symptoms of scarlet fever cause by strep. pyogenes?

A

rash that is
-coarse (“sandpaper-like”), erythematous and blanching (“sunburn-like”)

  • starts on the trunk then generalizes but spares the palms and soles
  • most prominent in the skin creases of axilla and groin (Pastia’s lines/sign)
  • strawberry tongue, beefy-red pharynx, cervical LAD
  • fever/chills

later, desquamation of hands and feet

distinguished from Kawasaki bu positive throat culture or rapid strep test

77
Q

Roseola infantum- characteristic symptoms

A

sudden, high fever (exceeding 102 F) for 3-4 days

child has no other signs of infection and often acts/plays normally

Then as the fever starts to dissipate, the patient gets a rash on the trunk/ entire body, that is usually gone within 24 hours

Other common findings: erythematous papules on soft palate and uvula, mild cervical LAD, edematous eyelids, bulding anterior fontanelle in infants.

Treatment: antipyretics as needed to lower the fever

78
Q

What is the differential diagnosis for cervical lymphadenitis in a child?

A

if acute and bilateral- usually viral
-URIs rhinovirus, adenovirus, influenza, group A streptococcus
Mono: EBV, CMV, mycoplasma
Other viruses: HIV, HSV

If acute and unilateral- usually bacterial (s. aureus, group A strep > anaerobes, GBS)

If chronic and unilateral:

  • bartonella henselae- cat scratch fever
  • toxoplamosis
  • TB- scrofula
  • actinomyces israelii- sinuses drain pus

Noninfectious causes (much less common): Kawasaki disease, Hodgkin lymphoma

79
Q

PFAPA syndrome

A

benign, recurrent 4-5 day syndrome consisting of Periodic Fever, Aphthous ulcers, Pharyngitis, and Adenitis

  • occurs monthly (every 28 days)
  • exclusion criteria include neutropenia, cough, coryza, diarrhea, severe abdominal pain, rash, arthritis, neuro defects

usually affects preschool- aged children (2-5 yo), usulaly goes away before age 10

benign, self- limiting disease
treatment:
-glucocorticoids relieve symptoms in a matter of hours
-cimetidine may be used for prevention of episodes, but is of questionable efficacy

-average duration of recurring symptoms is 4.5 years

80
Q

Pertussis (whooping cough)

A
  1. Incubation (7-10 days)
  2. Catarrhal stage (7-10 days): mild URI symptoms
  3. Paroxysmal stage (1-6 weeks): paroxysms of cough with inspiratory whoop that is worse at night and often with post-tussive emesis and exhaustion
    - often confused with acute bronchitis
  4. Convalescent stage (2-3 weeks): waning symptoms
Treatment: 
supportive care
antibiotics
-azithromycin (5 days)
shorter course, and erythromycin/clarithromycin contraindicated before 2 months

-erythromycin (14 days)
-clarithromycin (7 days)
TMP-SMX (14 days)

prophylaxis for close contacts (full course of one of the above antibiotics)

isolation from school/day care until 5 days of antibiotics have been completed, or 3 weeks after onset of symptoms in untreated patients

hospital admission (with isolation) indications for children with pertussis:

  • respiratory distress
  • PNA
  • inability to feed
  • cyanosis or apnea (with or without coughing)
  • seizures
81
Q

what additional work-up is needed in a child diagnosed with UTI?

A

renal and bladder ultrasound (RBUS)

  • child 2 febrile UTIs
  • child any age with first febrile UTI and family history of urologic disease, poor growth, or HTN
82
Q

Immunodeficiency disorders- overall clues

A

recurrent infections after 3 mos

83
Q

Thymic aplasia (DiGeorge syndrome)

A

3rd and 4th pouches fail to develop
-no thymus means no mature T cells

no parathyroids means hypocalcemia, leading to tetany

Recurrent viral, fungal, and protozoal infections

Congenital defects in heart/great vessels

90% have a chromosome 22q11 deletion (detect with FISH)

84
Q

Chronic mucocutaneous candidiasis

A

T cell dysfunction vs c. albicans

Treatment: antifungals (ketoconazole, fluconazole)

85
Q

Bruton agammaglobulinemia

A
  • X- linked (boys)
  • B-cell deficiency- defective tyrosine kinase gene- low levels of all immunoglobulins
  • Recurrent bacterial infections after 6 months
  • No B cells on peripheral smear
86
Q

Selective IgA deficiency

A

MC selective immunoglobulin deficiency. IgA is found in mucus to protect the respiratory tract

  • most appear healthy
  • recurrent sinus infections
  • recurrent lung infections
  • 1/600 people of European descent
  • associated with atopy and asthma
  • There isn’t much you can do but provide antibiotics when there is an infection. It is important to diagnose this condition, as there is possible anaphylaxis to blood transfusions and blood products.
87
Q

Severe combined immunodeficiency (SCID)

A
  • Defect in early stem cell differentiation
  • Can be caused by at least seven different gene defects:
  • adenosine deaminase deficiency is the most high- yield one to know

Last defense is NK cells

Presentation triad:

  1. Severe recurrent infections
    - chronic mucocutaneous candidiasis
    - fatal or recurrent RSV, VZV, HZV, measles, flu, parainfluenza
  2. pneumocystis jirovecii (PCP) pneumonia
  3. chronic diarrhea
  4. failure to thrive

Radiology:
no thymic shadow on newborn chest x-ray

Do not give these patients live attenuated vaccines

88
Q

Ataxia- telangiectasis

A

IgA deficiency and T cell deficiency- sinus and lung infections

Cerebellar ataxia and poor smooth pursuit of moving target with eyes

Talengiectasias on the face (after 5 years old)
Radiation sensitivity (try to avoid x-days)
Increased risk: lymphoma and acute leukemias
+/- elevated AFP (After 8 months of age)
average age of death: 25 years

ATAXIA:
Ataxia
Telangiectasia
Acute leukemia/lymphoma
X-ray sensitivity
IgA deficiency
AFP
89
Q

Wiskott-Aldrich Syndrome

A 
WAITER
Wiskott
Aldrich
Immunodeficiency
Thrombocytopenia and purpura
Eczema
Recurrent pyogenic infections

X- linked

90
Q

Chronic granulomatous disease (CGD)

A

X-linked inheritance (65-70%)
Lack of NADPH oxidase- phagocytes cannot destroy catalase-positive microbes

Especially susceptible to
S. aureus and
aspergillus infections

Diagnosis: negative nitroblue tetrazolium (NBT) test:
-NO yellow to blue-black oxidation (phagocytes don’t generate oxygen free- radicals)

Treatment:

  • prophylactic TMP-SMX and itraconazole
  • IFN-gamma also helpful
91
Q

Chediak- Higashi syndrome

A

defective LYST gene (lysosomal transport)- can’t get enzymes int olysozomes

defective phagocyte lysosomes- giant cytoplasmic granules in PMNs are diagnostic

presentation triad:

  • partial albinism
  • recurrent respiratory tract and skin infections
  • neurologic disorders
92
Q

Hyper IgE syndrome (Job syndrome)

A

Mutation in the gene for STAT2 signaling protein, leading to

  • impaired differentiation of Th17 cells
  • impaired recruitment of neutrophils

High levels of IgE and eosinophils

Presentation triad:

  • eczema
  • recurrent cold S. aureus abscesses (think of biblical Job with boils)- normal inflammation would make it warm
  • coarse facial features: broad nose, prominent forehead (“frontal bossing”), deep-set eyes, and “doughy” skin
  • common to have retained primary teeth, resulting in 2 rows of teeth
93
Q

Leukocyte adhesion deficiency syndrome

A

abnormal integrins- inability of phagocytes to exit circulation

recurrent bacterial infections
delayed separation of umbilical cord

94
Q

desquamation of hands and feet

A 
scarlet fever
Kawasaki disease
toxic shock syndrome
SJS
acrodynia (2/2 mercury poisoning)
95
Q

congenital heart defect+ low calcium+ recurrent infections

A

DiGeorge syndrome

96
Q

chronic mucocutaneous candidiasis+ chronic diarrhea+ failure to thrive

A

SCID

97
Q

negative nitroblue tetrazolium test

A

chronic granulomatous disease

98
Q

poor smooth pursuit of eyes + elevated AFP after 8 months

A

ataxia telangiectasis

99
Q

partial albinism+ recurrent URIs+ neurological disorders

A

Chediak-Higashi syndrome

100
Q

best choice for septic shock

A

NE

101
Q

best choice for cardiogenic shock

A

dobutamine

102
Q

causes vasoconstriction but with bradycardia

A

phenylephrine

103
Q

4 most common brain tumors in adults

A 
Mets
glioblastoma
meningioma
schwannoma
 (MGM studies)
104
Q

3 most common brain tumors in children

A

Astrocytoma
Medulloblastoma
Ependymoma

105
Q

Turner syndrome

A 
webbed neck
short stature
infertility
abnormal genital formation
renal defects
cardiac defects- coarctation of aorta
craniofacial abnormalities
45XO karyotype
MCC primary amenorrhea

Labs: karyotype

Treatment:

  • CV assessment
  • Estrogen and progestin replacement
  • growth hormone
106
Q

Labs for sex chromosome disorders

A

karyotype

many end in 1st trimester abortions (MCC 1st trimester abortion)

107
Q

Klinefelter syndrome

A 
47,XXY
males with an extra X
testicular atrophy
tall, thin body
gynecomastia
infertility
mild intellectual disability
psychosocial adjustment abnormalities
108
Q

47, XYY male

A

tall body
significant acne
mild intellectual disability (sometimes)

109
Q

47, XXX syndrome

A

intellectual disability
menstrual abnormalities
80th percentile for height
25th percentile for head circumference

110
Q

Trisomy 21

A

autosomal nondisjunction
Tri21 is most common
craniofacial abnormalities includinf protruding tongue, flat nose, small ears, vision and hearing loss, broad hands with simian crease, intellectual disability, cervical instability, increased space between first and second toes,

GI abnormalities: duodenal atresia, Hirschprung disease (inital failure to pass meconium), annular pancreas, celiac disease, early Alzheimer (30’s), cardiac defects

usually survive into 4th decade of life or possibly longer

associated with ALL
small risk of AML as well
US: increased nuchal translucency

Quadruple screen:
decreased AFP
increased beta HCG
decreased estriol
increased inhibin A
111
Q

trisomy 18 (Edwards syndrome)

A 
severe intellectual disability
micrognathia (small mouth)
limb abnormalities (rocker bottom feet, overlapping fingers)

cardiac defects, GI abnormalities, frequently fatal within 1 year of life

112
Q

Trisomy 13 (Parau syndrome)

A 
cleft lip and palate
cardiac defects
CNS defects
severe intellectual disability
rounded nose
polydactyly
frequently fatal wihin first year

labs: karyotyping
quadruple screen
amniocentesis to confirm diagnosis

113
Q

Deletion syndrome: Cris du chat

A

low birth weight
failure to thrive
intellectual disability
small head

high-pitched cat-like cry

114
Q

Wolf- Hirschhorn syndrome

A

intellectual disability
multiple cranial abnormalities
seizures

115
Q

Prader-Willi syndrome

A
  • overeating and obesity
  • decreased muscle tone in -infancy
  • intellectual disability
  • small hands and feet
  • obesity- related complications

inherited from the father

116
Q

Angelman syndrome

A

inherited from the mother
“happy puppet syndrome”
deletion or inactivation of genes on the maternally inherited chromosome 15, while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced

happy mood
intellectual disability
inappropriate laughter
ataxic gait

117
Q

Velocardiofacial syndrome (22q11 deletion)

A 
associated with DiGeorge syndrome
Cleft palate
Cardiac defects
Mild intellectual disability
Overbite
Speech disorders

T cell deficiency and hypocalcemia

118
Q

Williams syndrome

A

cheerful
cardiac defects
intellectual disability

119
Q

Fragile X syndrome

A

X- linked
trinucleotide repeat disorder (CGG) with anticipation in successive generations

occurs earlier and is more severe with each successive generation

H and P:
large face with prominent jaw, large ears
mild hand/foot abnormalities
macroorchidism
intellectual disability
hyperactivity
seizures

common cause of intellectual disability in men
screening, education, and monitoring needed

120
Q

Congenital malformations- most common

A

unilateral cleft lip, with or without cleft palate

prevent with folate supplementation

121
Q

Congenital malformations- what features are characteristic of fetal alcohol syndrome?

A

facial features: short palpebral fissures, thin upper lip, smooth philtrum, flattened midface

deficient brain growth: structural brain abnormalities,

122
Q

Ebstein anomoly (6 key features)

A
  1. tricuspid leaflets displaced inferiorly
  2. RV hypoplasia
  3. tricuspid regurgication or stenosis
  4. 80% have a patent foramen ovale
  5. dilated right atrium, leading to increased risk of SVT and WPW
  6. physical exam: widely split S2, tricupid regurgitation
123
Q

Branchial cleft cyst versus thyroglossal duct cyst

A

Branchial cleft cyst:

  • lateral neck
  • dose not move with swallowing

Thyroglossal duct cyst

  • midline neck
  • moves with swallowing
  • often associated with ectopic thyroid tissue
124
Q

Common presenting features of tuberous sclerosis

A

distinctive brown, fibrous plaque on the forehead seen in infancy

ash-leaf spots (hypopigmented macules most easily identified by wood’s lamp)

Shagreen patch (leathery cutaneous thickening usually on the lower trunk)

facial angiofibromas (adenoma sebaceum)

seizures
intellectual disability
subependymal nodules in the brain

125
Q

lactic acidosis, hyperlipidemia, hyperuricemia (gout)

A

Type 1 (von Gierke), where liver cells can’t undergo gluconeogenesis

126
Q

diaphragm weakness- respiratory failure

A

Type II (Pompe disease)

127
Q

Increased glycogen in liver, severe fasting hypoglycemia

A 
Type 1 (von Gierke disease) 
where liver cells can't undergo gluconeogenesis
128
Q

Hypatomegaly, hypoglycemia, hyperlipidemia (normal kidneys, lactate, and uric acid)

A

Type III (Cori disease)

129
Q

Painful muscle cramps, myoglobunuria with strenuous exercise

A

Type V McArdle disease

130
Q

severe hepatosplenomegaly, enlarged kidneys

A 
Type 1 (von Gierke disease) 
where liver cells can't undergo gluconeogenesis
131
Q

Cleft lip/palate, life expectancy

A

TRisomy 13 (Patau)

132
Q

high- pitched cat-like cry

A

cri du chat

133
Q

Elfin facial features, cardiac fects

A

Williams syndrome

134
Q

Tall, thin man with gynecomastia and testicular atrophy

A

Kleinfelter syndrome

135
Q

Large ears, intellectual disability, macroorchidism

A

Fragile X syndrome

136
Q

Obesity and overeating

A

Prader-Willi syndrome

137
Q

Micrognathia, life expectancy

A

trisomy 18

138
Q

happy mood, inappropriate laughter, ataxic gait

A

angelman syndrome

139
Q

intellectual disability, simian crease, GI and cardiac defects

A

Trisomy 21

140
Q

short stature, infertility, coarctation of aorta

A

Turner syndrome

141
Q

How to prevent flushing with niacin administration?

A

pre-treat with aspirin, half an hour ahead,

extended-release formulation, may improve with time

STEP2 (34 decks)

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