Exam 1 Diagnosis Flashcards

1
Q

Sx of Neonatal Abstinence Syndrome (NAS)

A

Hyperirritability/High-pitched excessive crying
Tremors
GI Disturbances
Hypertonia, exaggerated primitive reflexes
Feeding difficulties
Autonomic Dysfunction (sweating, fever, mottling, yawning)
Failure to thrive

May have: seizures, SGA, resp distress

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2
Q

What is Neonatal Abstinence Syndrome (NAS)?

A

Result of sudden discontinuation of fetal exposure to substances abused my mother (such as opioids)

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3
Q

Requirements of FAS diagnosis

A

small palpebral fissures (eye), smooth philtrum, thin upper lip
+ growth deficits
+ CNS abnormality

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4
Q

How does transient tachypnea of newborn

(TTN ) occur?

A

impaired fetal lung fluid clearance, late in gestation Cl and fluid secreting ch switch from secretion to absorption, process is enhanced by labor

(RF= c-section & prematurity)

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5
Q

Clinical presentation of TTN

Labs

A

tachypnea and ↑ work of breathing, lasts 24-72 hrs

CXR- diffuse parenchymal infiltrates (due to fluid in interstitium), fluid in interlobar fissure, occasional pleural effusions

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6
Q

What is Respiratory Distress Syndrome/Hyaline Membrane Disease?

A

surfactant deficiency or dysfn → pulm edema → epithelial inj → ↓ Na absorption ch

RF: prematurity, preinatal asphyxia, maternal diabetes, absence of maternal steroid admin

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7
Q

How does RDS present?

Labs?

A

w/in 1st hrs of life (usually right after delivery), marked resp distress, cyanosis

CXR- Ground glass pattern

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8
Q

How does Meconium Aspiration Syndrome (MAS) occur?

A

fetus passes meconium before birth and aspirate it → inactivates surfactant→ obstructs distal air passages → hyperinflation and atelectasis

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9
Q

Clinical presentation of meconium aspiration syndrome?

Labs?

A

meconium stained amniotic fluid → resp distress after delivery, tachypnea, cyanosis, ↑ work of breathing

CXR- diffuse, fluffy infiltrates

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10
Q

What is 7. Primary Pulmonary Hypertension of the Newborn (PPHN)?

A

failure to achieve normal ↓ in pulmonary vascular resistance → R to L shunt across ductus arteriosus → hypoxemia

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11
Q

Clinical presentation of PPHN

Labs

A

resp distress, cyanosis w/in hrs of birth

pulse ox showing cyanosis, echo to r/o structural heart dz, determine direction of shunt and assess ventricular fn

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12
Q

What is apnea of prematurity?

A

cessation of breathing >15 s (or accompanied by bradycardia and desat)

universal feature of preterm birth that resolves by 36-40 wks

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13
Q

What is congenital diaphragmatic hernia?

A

defect in diaphragm →cardiopulm abnormalities

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14
Q

How does congenital diaphragmatic hernia present and how do you diagnosis it?

A

resp distress at birth, ↓ breath sounds and may head bowel sounds, MC on L side

dx prenatally w/ US

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15
Q

When should you be considering TORCH?

A
Microcephaly
Intracranial calcifications
Rash 
Intrauterine Growth Restriction
Jaundice 
Hepatomegally 
Elevated transaminase
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16
Q

What is Necrotizing Enterocolitis?

A

acute inflame necrosis of bowel primarily affecting premature infants caused by presence of abnormal microbio (Klebsiella, E. coli, clostridia, coag-neg staph, rotavirus)

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17
Q

Clinical presentation of Necrotizing Enterocolitis

A

abdominal distention, feeding intolerance (emesis, increased residuals, bilious gastric output), hematochezia, discoloration of skin, temp instability, apnea, lethargy, poor perfusion, hypotension

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18
Q

Radiographic imaging shows pneumatosis intestinalis (portal venous gas - free air) → football sign if progress to bowel perforation (air surrounding bowel)

What is the most likely diagnosis?

A

Necrotizing enterocolitis

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19
Q

Clinical presentation of neonatal sepsis

A

Onset: 1st wk of life (early) or 1st 3 mo (late), resp distress, apnea, fever/temp instability, poor feeding, cyanosis, neruo abnormalities (seizures)

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20
Q

W/U for neonatal sepsis

A

blood cx, urine cx, LP, CBC

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21
Q

Clinical features of Down Syndrome

A
Atypical palpebral fissures
Small nose w/ low nasal bridge
Inner epicanthal folds
Brushfield spots
High arched palate
Relative macroglossia, fissures
Flat facial profile
Brachycephaly with flat occiput
Short neck, excess skin at nape
Hypotonia at birth
Single palmar crease
Widely separated 1st and 2nd toes
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22
Q

What is Transient Myeloproliferative Disorder?

A

occurs in children with Down syndrome → appears like leukemia, may have assoc anemia and thrombocytopenia → tx is supportive

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23
Q

lymphedema causing swollen hands and feet, webbed neck, low set ears, low hairline, broad chest w/ widely spaced nipples, ↑ incidence of hip dysplasia, amenorrhea or short stature

A

Turner Syndrome (X)

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24
Q

W/u for Turner Syndrome

A

Karyotype

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25
Q

usually present after pubertu with microorchidism (small testes) azoospermia (not prod. Sperm), sterility, gynecomastia, diminished facial hair

A

Klinefelter syndrome (XXY)

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26
Q

Signs of malnourishment, malabsorption, chronic illness, neglect

A

1st drop in weight curve

followed by height and finally head

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27
Q

Primary Microcephaly

A

Head Circumference <3rd percentile 


Head growth remains below “Normal” range 


Caused by number of inherited disorders or syndromes 


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28
Q

Secondary Microcephaly

A

Normal HC at birth
then “falls off” the normal curve over months or years

More concerning than primary

Caused by perinatal or post-natal insult e.g, asphyxia.

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29
Q

Dilation of ventricular system
crossing growth curve percentiles
split surures < 12 years old
Inc ICP

A

hydrocephalus

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30
Q

enlargement of head

>97th percentile on growth curve but parallels the curve

A

Macrocephaly

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31
Q

Craniosynostosis

A

one or more of the fibrous sutures prematurely fuses → bone → changes growth pattern of the skull → trapezoid shape

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32
Q

Plagiocephaly

A

flattening of the head

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33
Q

School failure, cognitive loss, hyperactivity, aggression, inattention, distractibility and delinquent behaviors

Abdominal colic, constipation, growth failure, hearing loss, microcytic anemia, dental caries, spontaneous abortions, renal disease, osteopenia, cardiovascular disease

A

lead posioning

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34
Q

Painless, gross blood in stool mucus

Presents in first 1-2 months of life

A

Food protein proctocolitis

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35
Q

Severe repetitive vomiting and diarrhea within hours of trigger food intake

Presents between 2 and 7 months of age

A

Food Protein Induced Enterocolitis Syndrome (EPIES)

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36
Q

MC cause of Food Protein Induced Enterocolitis Syndrome (EPIES)

A

Cow’s milk and soy

Can also be rice, oat, grains, egg, vegetables, poultry

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37
Q

What is the MC type of lactose intolerance in infants?

A

Secondary lactose intolerance such as after gastroenteritis or celiac disease

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38
Q

Increased gas, diarrhea (osmotic)

A

lactose intolerance

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39
Q

pernicious anemia, neuropathy, glossitis

A

vit b 12 deficiency

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40
Q

scurvy, pour wound healthing

A

vit C deficiency

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41
Q

vision, growth issues

A

vit A deficiency

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42
Q

anemia, neural tube defects, rash

A

folate deficiency

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43
Q

hemorrhage

A

vit k deficiency

44
Q

hemolytic anemai, vision, enrvous system

A

vit E deficiency

45
Q

vegan diet

A

risk for vit B 12 deficiency

46
Q

edema, immunodeficiency

A

protein deficiency

47
Q

marasmus

A

calorie deficiency

48
Q

When are GI sx more applicable to allergy response?

A

if patient is KNOWN to have allergy and exposure

49
Q

Sx of food alelrgies?

A

Urticaria, angioedema, emesis, rhinorrhea, wheezing, hypotension, anaphylaxis

50
Q

Passive passage of gastric contents into esophagus with OR without regurgitation/vomiting

NORMAL physiologic process, usually after meals, cause few or no symptoms

Occurs several times a day in infants, children,
adults

A

GER

51
Q

Regurgitation/vomiting, weight loss or poor weight gain, irritability, heartburn/chest pain (older children), hematemesis, dysphagia, wheezing, stridor, cough, hoarseness

A

GERD

52
Q

What age is GER most frequent?

A

1-6 mo peak at 3-4 mo

usually resolves nby 12 mo

53
Q

What is the MC surgical d/o in neonates?

A

pyloric stenosis

54
Q

Usually between 3-6 months of age

Vomiting (non-bilious) can begin within first several weeks
Becomes increasingly forceful and projectile

Weight loss despite ravenous hunger
Hypertrophied pylorus (“olive”) may be palpated

Hypochloremic, hypokalemic, metabolic alkalosis, dehydration

A

Pyloric Stenosis

55
Q

sx 1st mo of life
bilious emesis, developing to abd distention and peritonitis small bowel obstruction with volvulus
mau have chronic emesis and diarrhea

A

Malrotation

56
Q

Volvulus

A

Life-threatening condition associated with malrotation and twisting of the intestine on the mesenteric axis

57
Q

What needs to be considered in an infant with bilious emesis?

A

volvulus

58
Q

Upper GI series can demonstrate “corkscrew” appearance of the small bowel

A

volvulus

59
Q

Characterized by “telescoping” of intestines

A

Intussusception

60
Q

highest incidence of Intussusception

A

<2 years

61
Q

Abdominal pain, vomiting, “currant
jelly stools”

Usually previously healthy, although some have preceding GI infection
Severe and colicky pain, inconsolable when in distress
Altered mental status
Vomiting, fever, anorexia

hypotonia, “sausage-like” mass in RLQ or RUQ

A

Intussusception

62
Q

How do you diagnosis intussusception?

A

Ultrasound, CT, Air-contrast enema

63
Q

Prevalence of ~2% in general pop

Contains rests of ectopic tissue (2 types: gastric or pancreatic)

Usually within 2 feet from ileocecal valve

MC 2 inches long

Children <2 years have highest risk

A

Meckel’s Diverticulum

64
Q

Small bowel obstruction, lower GI bleeding, intussusception

A

Meckel’s Diverticulum

65
Q

Diagnosis of Meckel’s Diverticulum

A

Meckel’s Scan

66
Q

Neonate with abdominal distention, bilious emesis, large bowel obstruction
OR
Otherwise healthy infant with delayed passage of meconium

A

Hirschprung’s Disease

67
Q

Infant/older child presenting with constipation requiring rectal stimulation to pass stool

A

Hirschprung’s Disease

68
Q

Hirschprung’s Disease diagnosis

A

rectal exam may demonstrate increased tone; explosive bowel movement after
exam

KIB

rectal bx

If clinically suspected, refer to Pediatric GI/Pediatric
surgery

69
Q

What is GS to diagnosis Hirschsprung’s Disease?

A

Rectal biopsy, histology demonstrates absence of ganglion cells

70
Q

Overflow and presence of constipation

Stool withholding, accumulation of large mass of stool in rectum

Liquid stool seeps around the mas of stool; cannot be controlled

A

Encopresis

71
Q

Acute watery diarrhea lasting several hours to

days

A

Generally viral or toxin mediated

72
Q

Acute bloody diarrhea

A

MC is Shigella

Salmonella, Camphylobacter jeguni

73
Q

Prolonged (7-14 days) or persistent (>14 days)

diarrhea

A

May be infectious (Giardia, Cryptosporidium, C. diff)

Chronic Disease (celiac disease, IBD)

74
Q

Signs of bowel obstruction Mass typically firm,
discrete.
Tender
Often surrounded by erythema and edema of overlying skin
Testicle may appear blue
Pressure on spermatic cord venous congestion

A

Incarcerated Inguinal Hernia

75
Q

Uncomfortable, but consolable
Tolerates feeds
Mass may be somewhat mobile, irreducible, non- tender
Transillumination
Area of “swelling” typically involves only the scrotum

A

Hydrocele

76
Q

What side is MC affected for inguinal hernia?

A

right side

77
Q

Dilation of pampiniform plexus
Typically painless but may cause “dull ache”
“Bag of worms”

A

Varicocele

78
Q

What side is MC for Varicocele?

A

left side

79
Q

Varicocele present only with Valsalva

A

Grade 1

80
Q

Varicocele present without Valsalva, but not visible

A

Grade 2

81
Q

Varicocele Visible with inspection

A

Grade 3

82
Q

often due to brisk cremasteric reflex in boys > 1 year old

A

Retractile testes

83
Q

What is the MC disorder of sexual differentiation in boys?

A

Cryptorchidism

84
Q

When does testicular descent typically occur?

A

7-8 mo gestation

85
Q

Cryptorchidism

A

delayed testicular descent

86
Q

Micropenis

A

<2.5 SD for gestational age

87
Q

What should you consider if theres Hypoglycemia + micropenis

A

congenital hypopituitarism

88
Q

Eval of micropenis

A

Karyotype

Assessment of anterior pituitary function

Assessment of testicular function

MRI to assess pituitary, hypothalamus and other midline CNS structures

89
Q

1st deg Hypospadias

A

Distal

90
Q

2nd deg Hypospadias

A

Midpenile

may indicate disorder of sexual differentiation

91
Q

3rd deg Hypospadias

A

Proximal

consider VCUG because 5-10% will have dilated prostatic utricle

may indicate disorder of sexual differentiation

92
Q

Inability to retract the prepuce at an age when it should be retractable

A

Phimosis/Paraphimosis

93
Q

Physiologic phimosis

A

natural in newborns

Prepuce typically becomes retractable by age 3
years

94
Q

Paraphimosis

A

retract, but then cannot extend

95
Q

Pathologic phimosis

A

if previously retractable, or after puberty

96
Q

Non-specific vulvovaginitis

A

Chemical irritant (soaps, detergents)

MC than specific

97
Q

Specific vulvovaginitis

A

Bacteria pathogens

98
Q

Fusion of the labia minora
Often no symptoms
Can interfere with voiding urine Recurrent UTIs

A

Labial Adhesions

99
Q

dysuria, frequency, urgency, enuresis,

suprapubic pain

A

Cystitis

100
Q

all of the above, plus fever, chills, nausea/vomiting, flank pain

A

Pyelonephritis

101
Q

Fever, irritability, vomiting, decreased appetite, lethargy,

hyperbilirubinemia, failure to thrive

A

UTI Symptoms in infants/toddlers

102
Q

What should you consider in all febrile children < 24 months?

A

UTI

103
Q

Children who have not had 6 months of dry nights

A

Primary Enuresis

104
Q

Children who have previously attained 6 months of
dry nights

More likely to occur with new stressors or underlying medical condition

A

secondary Enuresis

105
Q

Intermittent urinary incontinence during sleep

at least 5 years of age

A

Nocturnal Enuresis

106
Q

Inability to awaken from sleep in response to full bladder

A

Primary nocturnal enuresis