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STEP 3 COPY > Pediatrics > Flashcards

Pediatrics Flashcards

1
Q

What two therapies should be given to a newborn at the time of delivery?

A
  1. 0.5% erythromycin ophthalmic ointment

2. 1 mg vitamin K intramuscular injection (prevent hemorrhagic disease)

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2
Q

What are the clotting factors and anticoagulant factors that are vitamin K dependent? (6)

A
  1. factor II (2)
  2. factor VII (7)
  3. factor IX (9)
  4. factor X (10)
  5. protein C
  6. protein S
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3
Q

What steps in management should occur in a newborn after delivery prior to discharge from hospital?

A

1a. hep B vaccine if mom Hep B negative
1b. hep B vaccine with hep IVIG if mom Hep B positive
2. hearing test (congenital sensorineural hearing loss)
3. neonatal screening test (after 48 hours; tests for PKU, galactosemia, hypothyroidism)

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4
Q

What is the purpose of APGAR scores?

A

measure need (1-minute) and effectiveness (5-minute) of resuscitation/ therapy

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5
Q

A newborn who has blue/ gray macules on presacral back or posterior thigh most likely suffers from …. and the next step in management is ….

A

Monoglian Spots (fade after first few years); rule out abuse

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6
Q

A newborn presents with firm yellow-white papules/ pustules with an erythematous base which peaks on the second day of life most likely suffers from …

A

Erythema Toxicum

tx: none bc self limited

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7
Q

A newborn presents with a permanent unilateral vascular discoloration/ malformation on their head and neck most likely suffers from … and the best treatment is ….

A

Port Wine Stain (nevus flammeus); pulsed laser therapy

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8
Q

What disease is associated with the presence of a port wine stain?

A

Sturge-Weber syndrome

AV malformation resulting in seizures, mental retardation, glaucoma and port wine stain

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9
Q

What is the next best step in management of a infant/ child with a port wine stain after pulsed laser therapy?

A

evaluate for glaucoma and start anticonvulsants

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10
Q

A newborn presents with red, sharply demarcated raised lesions appearing in the first 2 months, rapidly expanding and then involuting by age 5-9 years old most likely suffers from …

A

Hemangioma

Can involve internal organs and result in high output cardiac failure

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11
Q

What is the best treatment for hemangioma?

A

Steroids or pulsed laser therapy (if large or interferes with organ function)

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12
Q

What is the next best step in management for an infant who presents with preauricular tags/ pits? (2)

A
  1. Hearing test ( assess for hearing loss)

2. Kidney ultrasound (assess for genitourinary abnormalities)

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13
Q

What disorder is associated with a defect in the iris known as coloboma of the iris?

A

CHARGE syndrome (coloboma, heart defects, atresia of nasal choanae, growth retardation, genitourinary abnormalities, ear abnormalities)

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14
Q

What disorder is associated with an absence of the iris known as aniridia?

A

Wilma tumor (WAGR syndrome- wilms tumor, aniridia, genitourinary anomalies, mental retardation)

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15
Q

What is the next best step in management of an infant presenting with an absence of the iris/ aniridia?

A

Abdominal ultrasound every 3 months until age 8 (to assess for Wilms tumor)

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16
Q

An infant presenting with a neck mass that is lateral to the midline most likely suffers from …

A

Branchial cleft cyst (remnant of embryonic development associated with infections)

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17
Q

An infant presenting it with a neck mass that is midline and moves with swallowing or tongue protrusion most likely suffers from ….

A

Thyroglossal duct cyst (occurs anywhere along Thyroglossal tract which forms form descent of primordial thyroid gland)

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18
Q

What is the next best step in management of an infant presenting with a Thyroglossal duct cyst?

A

Thyroid scan and thyroid function test (to assess for thyroid ectopia) followed by surgical removal (associated with infections)

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19
Q

An infant presents with GI tract protrusion through the umbilicus with a sac covering the intestinal content most likely suffers from …

A

Omphalocele (failure of GI tract to retract at 10-12 weeks gestation)

(associated with chromosomal abnormalities)

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20
Q

What is the next best step in management for an infant presenting with an omphalocele after specifically treating the omphalocele with a silo, TPN and antibiotics?

A

screen for trisomy 13, 18 and 21

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21
Q

An infant presenting with abdominal defect in which intestinal content are protruding lateral to the midline without a sac covering most likely suffers from … and is associated with …

A

Gastroschisis; intestinal atresia

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22
Q

What is the next best step in management of an infant presenting with an umbilical hernia (congenital weakness where vessels of the fetal and infant umbilical cord exited thru the rectus abdominis muscle)?

A

obtain TSH level (screen for associated congenital hypothyroidism)

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23
Q

A male infant presenting with scrotal swelling that transilluminates most likely suffers from …

A

Hydrocele (must differentiate from inguinal hernia)

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24
Q

What is the next best step in management of an infant presenting with undescended testes (unilateral absence of testes in scrotal sac)?

A

no treatment until 1 year of age, treatment can be:

  1. hormone injections (beta HCG or testosterone)
  2. orchiopexy (surgery)
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25
Q

A male infant presents with urethral opening on the ventral surface of the penis most likely suffers from …. and … should be avoided

A

hypospadias; circumcision

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26
Q

A male infant presents with urethral opening on the dorsal surface of the penis most likely suffers from … and the next best step in management is…

A

epispadias; surgical evaluation for bladder exstrophy (associated with urinary incontinence)

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27
Q

A male infant presenting with an inguinal bulge or reducible scrotal sac swelling most likely suffers from …

A

Inguinal hernia

tx surgically

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28
Q

What is the best initial diagnostic test for an infant that presents large for gestation, plethora, jitteriness, prolonged delivery with birth trauma (shoulder dystocia), macrosomia and cardiac abnormalities?

A

blood glucose

likely infant of diabetic mother

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29
Q

What is the best treatment for a symptomatic infant of a diabetic mother?

A

glucose and small, frequent meals

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30
Q

What are the five lab abnormalities associated with an infant of a diabetic mother?

A
  1. hypoglycemia (bc hyperinsulinemic)
  2. hypocalcemia
  3. hypomagnesemia
  4. hyperbulirubinemia
  5. polycythemia
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31
Q

What is the best initial diagnostic test for an infant with respiratory distress?

A

Chest X-ray

(other tests are ABG, blood cultures, blood glucose for hypoglycemia, CBC for anemia/ polycythemia, cranial ultrasound for intracranial hemorrhage)

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32
Q

What is the best initial treatment for an infant with respiratory distress?

A
  1. oxygen to keep SaO2 > 95%
  2. nasal CPAP if high O2 requirement (prevents barotrauma and bronchopulmonary dysplasia)
  3. empiric antibiotics (if suspected sepsis)
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33
Q

On the CCS, if an infant presents with respiratory distress and doe not improve with oxygen, what is the next best step in management?

A

evaluate for cardiac causes of hypoxia (ECHO for congenital heart defects)

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34
Q

A premature infant develops tachypnea, nasal grunting, and intercostal retractions within hours of birth with associated hypoxemia, hypercarbia and respiratory acidosis most likely suffers from…

A

Respiratory Distress Syndrome

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35
Q

What is the best predictive test for respiratory distress syndrome in an infant and what is the most effective treatment for respiratory distress syndrome in an infant?

A

lecithin-sphingomyelin (L/S) ratio on amniotic fluid prior to birth; exogenous surfactant administration

(best initial test: chest X-ray; best initial tx: oxygen & nasal CPAP)

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36
Q

At what point in pregnancy do type II pneumocytes start to produce surfactant and at what point is there sufficient amount of surfactant?

A

24 weeks gestation; 35 weeks gestation

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37
Q

What are three steps of management that can be done as primary prevention for respiratory distress syndrome in an infant?

A
  1. antenatal bethamethasone (if >24 hours before delivery and
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38
Q

What are the three possible complications associated with respiratory distress syndrome in infant?

A
  1. retinopathy of prematurity (due to hypoxemia)
  2. bronchopulmonary dysplasia (due to prolonged high concentration oxygen)
  3. intraventricular hemmorhage
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39
Q

A term infant presents with tachypnea after being delivered by cesarean section or after a rapid second stage of labor most likely suffers from …. which is due to …

A

Transient Tachypnea of the Newborn (TTN); retained lung fluid

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40
Q

What is the diagnostic test for transient tachypnea of the newborn and its associated findings?

A

Chest X-ray showing air trapping, fluid in fissures, perihilar streaking

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41
Q

What is the best initial treatment for transient tachypnea of the newbown?

A

oxygen (improvement within hours or days)

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42
Q

A full term neonate presents with severe respiratory distress, hypoxemia, hypoxia/ fetal distress in utero, and chest X-ray findings of patchy infiltrates, increased A-P diameter (barrel chest) and flattening of diaphragm most likely suffers from …

A

Meconium Aspiration

complications: pulmonary artery hypertension, air leak (pneumothorax, pneumomediastinum), aspiration pneumonitis

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43
Q

What is the treatment for meconium aspiration?

A
  1. positive pressure ventilation
  2. high frequency ventilation
  3. nitric oxide therapy
  4. extracorporeal membrane oxygenation
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44
Q

What is the best step in management to prevent meconium aspiration?

A

endotracheal intubation and airway suction of depressed infants

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45
Q

An infant presents with respiratory distress and scaphoid abdomen most likely suffers from …

A

Diaphragmatic hernia

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46
Q

What is the best initial diagnostic test for suspected diaphragmatic hernia and what is the associated finding?

A

Chest X-ray showing loops of bowel in chest

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47
Q

What is the best initial treatment for diaphragmatic hernia?

A

immediate intubation followed by surgical intubation

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48
Q

What disorders are associated with meconium plugs (meconium stuck in lower colon resulting in intestinal obstruction)? (4)

A
  1. small left colon in infant of diabetic mother
  2. hirschsprung disease
  3. cystic fibrosis
  4. maternal drug abuse
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49
Q

What disorder is associated with meconium ileus (meconium stuck in lower ileum resulting in intestinal obstruction)?

A

Cystic fibrosis

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50
Q

What is the best initial diagnostic test for suspected meconium plugs/ ileus causing intestinal obstruction?

A

Abdominal X-ray

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51
Q

What is the best treatment for meconium ileus?

A

gastrograffin enema

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52
Q

An infant born term with no complications presnts with choking, drooling and gagging with the first feeding followed by developing respiratory distress with an infiltrate on chest x-ray most likely suffers from …

A

Tracheoesophageal fistula

incomplete division of cranial part of foregut into respiratory and esophageal parts at 4 weeks gestation

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53
Q

What is the best diagnostic test for suspected tracheoesophageal fistula?

A

nasogastric tube placement resulting in tube coiling in chest

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54
Q

What are the disorders are included in VACTERL syndrome?

A
  1. vertebral defects
  2. anal atresia
  3. cardiac defect
  4. tracheoesophageal fistula with esophageal atresia
  5. radial and renal abnormalities
  6. limb syndrome
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55
Q

A premature infant born via normal vaginal delivery develops vomiting of gastric and bilious material with initial feed, has a history of polyhydramnios on prenatal exam and is found to have a double bubble on abdominal x-ray most likely suffers from …

A

duodenal atresia

failure to re-form lumen during duodenal development

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56
Q

What is the treatment for duodenal atresia?

A

nasogastric decompression and surgical correction

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57
Q

What disorder is associated with duodenal atresia?

A

Down Syndrome

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58
Q

What are the four disorders associated with a double bubble sign on abdominal x-ray?

A
  1. duodenal atresia
  2. annular pancreas
  3. malrotation
  4. volvulus
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59
Q

A premature infant who had low APGAR scores at birth develops bloddy stools, apnea, and lethargy when feeding is started and may have associated with abdominal wall erythema and distension most likely suffers from ..

A

Necrotizing Enterocolitis

increased risk with formula feeding; greatest risk factor is prematurity

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60
Q

What is the best initial diagnostic test for suspected necrotizing enterocolitis?

A

abdominal x-ray showing pneumatosis intestinalis (gas cysts in bowel wall instead of lumen)

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61
Q

What is the best initial therapy for necrotizing enterocolitis?

A
  1. stop all feeds
  2. decompress gut
  3. broad spectrum antibiotics
  4. surgical resection if needed
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62
Q

What is the best initial test for an infant who fails to pass meconium?

A

rectal examination

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63
Q

For an infant who fails to pass meconium in the initial 24-48 hours. a patent rectum with passage of a large voluminous stool after digital exam suggests that the infant most likley suffers from …

A

Hirschsprung disease

absence of ganglionic cells in intestine

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64
Q

What is the best confirmatory test for hirschsprung disease and the treatment for hirschsprung disease?

A

rectal biopsy (absent ganglionic cells); surgical recontruction

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65
Q

What is the next best step in management of an infant who fails to pass meconium after performing a rectal examinaton?

A

barium enema

assess for megacolon proximal to obstruction

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66
Q

An infant who fails to pass meconium and has an absent anal opening on rectal examination most likely suffers from… and treatment is ….

A

Imperforate anus; surgical reconstruction

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67
Q

What are five indications that suggest that hyperbilirubinemia in a newborn is pathologic instead of physiologic?

A
  1. appears in first day of life
  2. bilirubin rises > 5 mg/dL/ day
  3. bilirubin > 12 mg/dL at any time
  4. direct bilirubin > 2mg/dL at any time
  5. present after 2nd week of life
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68
Q

What are the two main reasons for physiologic jaundice in a newborn?

A
  1. low levels of glucuronosyltransferase (unable to conjugate for excretion)
  2. shorter life span of RBCs
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69
Q

What diagnostic tests should be performed in a newborn with jaundice present in the first 24 hours?

A
  1. bilirubin level (total and direct)
  2. blood type of infant and mother (assess for ABO or Rh incompatibility)
  3. direct coombs test
  4. CBC, reticulocyte count, blood smear (assess for hemolysis)
  5. urinalysis and urine culture if elevated direct bilirubin (assess for sepsis)
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70
Q

What diseases should be considered if there is prolonged jaundice (> 2 weeks) with no elevation in conjugated bilirubin in a neonate?

A
  1. UTI or other infection
  2. bilirubin conjugation abnormality (Gilbert’s syndrome, Criglre-Najjar syndrome)
  3. hemolysis
  4. intrinsic red cell membrane or enzyme defects (G6PD deficiency, pyruvate kinase deficiency, spherocytosis)
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71
Q

What is the likely cause of prolonged jaundice (> 2 weeks) with elevation in conjugated bilirubin in a neonate?

A

cholestasis

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72
Q

What is the best initial diagnostic test for prolonged jaundice (> 2 weeks) with elevation in conjugated bilirubin in a neonate?

A

liver function tests

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73
Q

What is the most specific test for prolonged jaundice (> 2 weeks) with elevation in conjugated bilirubin in a neonate?

A

ultrasound and liver biopsy

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74
Q

A neonate with jaundice develops hypotonia, seizures, opisthotonos, delayed motor skills, choreoathetosis and sensorineural hearing loss most likely suffers from …

A

Kernicterus (due to elevated indirect bilirubin crossing BBB and depositing in basal ganglia and brainstem nuclei)

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75
Q

What is the treatment for kernicterus?

A

immediate exchange transfusion

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76
Q

What is the treatment for hyperbilirubinemia?

A
  1. phototherapy when bilirubin > 10-12 mg/dL (reduces by 2 mg/dL every 4-6 hours)
  2. exchange transfusion if suspected bilirubin encephalopathy or failure of phototherapy
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77
Q

What are the 5 steps in management included in a sepsis workup?

A
  1. CBC with differential
  2. blood culture
  3. urinalysis and urine culture
  4. chest x-ray
  5. followed by antibiotics
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78
Q

What is the most common cause of early onset sepsis (within the first 24 hours) in a newborn and the likely organisms that cause it?

A

pneumonia

  1. group B strep (beta hemolytic gram positive)
  2. E. coli (gram negative rod)
  3. Haemophilus influenza (gram negative coccobacillus)
  4. listeria (gram positive, motile with flagella)
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79
Q

What are the most common cause of late-onset sepsis (after first 24 hours) in a newborn and the likely organism that cause it?

A

meningitis and bacteremia

  1. Staph aureus (gram positive coccus)
  2. E. Coli (gram negative rod)
  3. Klebsiella (gram negative, oxidase negative rod)
  4. Pseudomonas (gram negative aerobic)
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80
Q

What antibiotics are given as empiric therapy for neonatal sepsis until 48-72 hours cultures are negative?

A

ampicillin and gentamicin

add cefotaxime if meningitis

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81
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, and hydrocephalus with generalized intracranial calcifications and chorioretinitis most likely suffers from …

A

Toxoplasmosis congenital infection

dx: IgM against toxoplasmosis

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82
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, cataracts, deafness, heart defects, and extramedullary hematopoiesis (blueberry muffin spots) most likely suffers from …

A

Rubella congenital infection

dx: IgM against rubella if mother’s status negative or unknown

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83
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, microcephaly with periventricular calcification, petechiae with thrombocytopenia, and sensorineural hearing loss most likely suffers from …

A

CMV congenital infection

dx: serum CMV IgM antibodies; urine/saliva CMV culture

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84
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, pneumonia/ shock in the first week, skin vesicles and keratoconjunctivitis in the second week, and acute meningoencephalitis during the 3rd to 4th week most likely suffers from …

A

Herpes congenital infection

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85
Q

What is the best initial test and the most specific test for herpes congenital infection?

A

Tzanck smear/ culture; HSV PCR

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86
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, osteochondritis, periostitis, desquamating skin rash of palms and soles, and snuffles (mucopurulent rhinitis) most likely suffers from …

A

Syphillis congenital infection

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87
Q

What is the best initial test and the most specific test for syphillis congenital infection?

A

VDRL screening; IgM-FTA-ABS

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88
Q

An infant presents with intrauterine growth retardation, hepatosplenomegaly, jaundice, mental retardation, limb hypoplasia, cutaneous scars, and seizures most likely suffers from…

A

Varicella congenital infection

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89
Q

What is the best initial test and the most specific test for varicella congenital infection?

A

IgM serology; PCR of amniotic fluid

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90
Q

An infant presenting with subtle repetitive movements (chewing, tongue thrusting, apnea, staring, blinking, desaturations), ocular deviations and failure of jitteriness to subside with stimulus (such as passive movement of limb) most likely suffers from …

A

Seizures

tonic-clonic movements uncommon in neonates

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91
Q

What is the best treatment for an acute seizure in a neonate?

A

lorazepam or diazepam rectally

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92
Q

What is the diagnostic work-up for neonatal seizures?

A
  1. EEG (likely normal)
  2. metabolic testing (CBC, electrolytes, calcium, magnesium, glucose)
  3. amino acid assay and urine organic acids (inborn errors of metabolism and pyridoxine deficiency)
  4. infectious (total cord blood IgM screening for TORCH, blood and urine cultures, lumbar puncture if meningitis)
  5. head ultrasound in premature (intraventricular hemorrhage cause seizures 2-7 days after birth)
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93
Q

What is the best initial treatment for absence seizures?

A

ethosuximide

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94
Q

What are the four substances used by a mother during pregnancy that results in withdrawal symptoms (hyperactivity, irritability, fever, diarrhea, tremors, jitters, high pitched crying, sneezing, restlessness, vomiting, nasal stuffiness, poor feeding, seizures, tachypnea) within the first 48 hours of life?

A
  1. heroin
  2. cocaine
  3. amphetamine
  4. alcohol
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95
Q

What are the substance used by a mother during pregnancy results in withdrawal symptoms (hyperactivity, irritability, fever, diarrhea, tremors, jitters, high pitched crying, sneezing, restlessness, vomiting, nasal stuffiness, poor feeding, seizures, tachypnea) within the first 96 hours of life up to 2 weeks?

A

methadone

96
Q

What is the best initial treatment for an infant in substance withdrawal?

A

opioids and phenobarbital

avoid naloxone bc can precipitate sudden withdrawal

97
Q

What is the neonatal effect of maternal use of anesthetics or barbiturates?

A

respiratory and CNS depression

98
Q

What is the neonatal effect of maternal use of magnesium sulfate?

A

respiratory depression

99
Q

What is the neonatal effect of maternal use of phenobarbital?

A

vitamin K deficiency (bleeding problems)

100
Q

What is the neonatal effect of maternal use of sulfonamides?

A

displaces bilirubin from albumin

101
Q

What is the neonatal effect of NSAIDs use?

A

premature closure of ductus arteriosus

102
Q

What is the neonatal effect of maternal use of ACE inhibitors?

A

craniofacial abnormalities

103
Q

What is the neonatal effect of maternal use of isoretinoin?

A

facial anomalies, ear anomalies, congenital heart disease

104
Q

What is the neonatal effect of maternal use of phenytoin?

A

hypoplastic nails, typical facies, intrauterine growth retardation

105
Q

What is the neonatal effect of maternal use of diethylstilbestrol (DES)?

A

vaginal adenocarcinoma

106
Q

What is the neonatal effect of maternal use of tetracycline?

A

enamel hypoplasia, discoloration of teeth

107
Q

What is the neonatal effect of maternal use of lithium?

A

ebstein’s anomaly

108
Q

What is the neonatal effect of maternal use of warfarin?

A

facial dysmorphism and chondrodysplasia

109
Q

What is the neonatal effect of maternal use of valproate or carbamazepine?

A

mental retardation, neural tube defects

110
Q

A child presenting with upward slanting palpebral fissures, speckling of iris (Brushfield spots), inner epicanthal folds, short stature, late fontanel closure and mental retardation after being born to a mother of advanced maternal age most likely suffers from …

A

Down syndrome (Trisomy 21)

111
Q

What diagnostic workup should be performed in a child with trisomy 21/ down syndrome due to disease associations?

A
  1. hearing exam
  2. ECHO (endocardiac cushion defect > VSD > PDA, ASD, MVP)
  3. TSH (hypothyroidism)

(also associated with tracheoesophageal fistula, duodenal atresia, acute lymphoblastic leukemia, early onset Alzheimer’s disease)

112
Q

A child is born with low set, malformed ears, microcephaly, micrognathia, clenched hand in which index is over third finger and fifth is over fourth finger, rocker bottom feet, hammer toes, and omphalocelemost likely suffers from…

A

Edwards syndrome (Trisomy 18)

113
Q

What diagnostic workup should be performed in a child with trisomy 18/ edwards syndrome due to disease associations?

A
  1. ECHO (PDA, ASD, VSD)
  2. renal ultrasound (polycystic kidneys, ectopic or double ureter)

(death within 1st year of life)

114
Q

A child is born with defect of midface, eye and forebrain development, holoprosencephaly, microcephaly, microphthalmia, and cleft palate/ lip most likely suffers from …

A

Patau syndrome (Trisomy 13)

115
Q

What diagnostic workup should be performed in a child with trisomy 13/ patau syndrome due to disease associations?

A
  1. ECHO (VSD, PDA, ASD)
  2. renal ultrasound (polycystic kidney)
  3. umbilical cord evaluation (single umbilical artery)
116
Q

A male child presents with low IQ, behavioral problems, slim build with long limbs, hypogonadism, and gynecomastia most likely suffers from …

A

Klinefelter’s syndrome (XXY karyotype)

117
Q

What is the treatment for Klinefelter’s syndrome (XXY karyotype)?

A

replace testosterone at age 11-12

118
Q

A female child presents with small stature, gonadal genesis, low IQ, congeintal lymphedema, webbed posterior neck, broad chest and wide spaced nipples most likely suffers from …

A

Turner’s syndrome (XO karyotype)

119
Q

What diagnostic work-up should be performed in a child with Turner’s syndrome?

A
  1. ECHO (bicuspid aortic valve, coarctation of aorta)
  2. renal ultrasound (horseshoe kidney, double renal pelvis)
  3. thyroid function (primary hypothyroidism)
    (can give estrogen, growth hormone, anabolic steroid replacement)
120
Q

A male child presents with macrocephaly, large ears, large testes, and mental retardation most likely suffers from …

A

Fragile X syndrome

due to CGG repeat on X chromosome

121
Q

What psychiatric disorder is associated with fragile X syndrome?

A

Attention Deficit Hyperactivity Disorder (ADHD)

122
Q

A child presents with macrosomia, macroglossia, pancreatic beta cell hyperplasia, hyperinsulinemia, hypoglycemia, large kidneys and neonatal polycythemia most likely suffers from…

A

Beckwith-Wiedemann syndrome

due to IGF-2 disruption on 11p15.5

123
Q

What is the next best step in management of a child who is determined to have Beckwith-Wiedemann syndrome?

A

abdominal ultrasounds and serum AFP levels every 6 months until the age of 6 (assess for Wilms tumor and hepatoblastoma due to increased risk of abdominal tumors)

124
Q

A child presenting with obesity, mental retardation, binge eating and small genitalia most likely suffers from …

A

Prader-Willi Syndrome

due to deletion of paternally derived 15q11.13

125
Q

A child presenting with mental retardation, inappropriate laughter, absent speech/ less than 6 words, ataxia, jerky arm movements resembling a puppet gait and recurrent seizures most likely suffers from…

A

Angelman syndrome (Happy puppet syndrome)

due to deletion of maternally derived 15q11.13

126
Q

A child who may have fetal alcohol syndrome or Edwards syndrome who presents with mandibular hypoplasia and a cleft palate most likely suffers from …

A

Robin sequence (Pierre Robin sequence)

127
Q

What is the next best step in management of a child with Robin sequence (Pierre Robin sequence)?

A

monitor airway for possible obstruction for first 4 weeks of life

128
Q

At what age in a child’s life is their weight double their birth weight? And at what age in a child’s life is their weight triple their birth weight?

A

6 months old; 1 year old

129
Q

What is the best indicator of acute malnutrition in a child?

A

weight/height is less than 5th percentile

130
Q

What are the possible causes of a child having decreased weight gain that is more significant than their decrease in height growth? (3)

A
  1. undernutrition
  2. inadequate digestion
  3. malabsorption (infection, cystic fibrosis, celiac disease, dissacharide deficiency, protein losing enteropathy)
131
Q

What is the diagnostic work-up that should be performed in a child whose decrease in weight gain is more significant than their decrease in height growth? (3)

A
  1. assess caloric intake
  2. perform stool studies for fat
  3. perform sweat chloride test
132
Q

What are the possible causes of a child having normal weight gain but decreasing height growth? (4)

A
  1. growth hormone deficiency
  2. thyroid hormone deficiency
  3. excessive cortisol secretion
  4. skeletal dysplasia
133
Q

What is the diagnostic work-up that should be performed in a child who has normal weight gain but decreasing height growth?

A
  1. IGF-1 and IGF-binding protein 3 level (growth hormone deficiency)
  2. TSH, free T4 and free T3 (thyroid hormone deficiency)
  3. 24 hour urinary cortisol or free cortisol level (excessive cortisol)
  4. X-ray of hand and wrist for bone age (skeletal dysplasia show no delay in bone age but disproportionate bone length on exam)
134
Q

What are possible causes of a child whose has decreasing weight gain that is equal to the decreasing height gain? (6)

A
  1. heart failure
  2. inflammation (arthritis, inflammatory bowel disease)
  3. renal insufficiency
  4. hepatic insufficiency
  5. genetic short stature
  6. constitutional delay in growth and development
135
Q

What is the diagnostic work-up that should be performed in a child who has decreasing weight gain that is equal to decreasing height gain?

A
  1. inflammatory markers (CRP, ESR, CBC with diff)
  2. renal and liver markers (LFTs, creatinine, BUN, electrolytes)
  3. bone age with x-ray of hand and wrist
136
Q

What are the features that differentiate genetic short stature from constitutional delay in growth and development when a child has decreasing weight gain that is equal to decreasing height gain?

A

genetic short stature: bone age close to chronological age, puberty at normal time
constitutional delay: bone age delayed, puberty occurs later in life

137
Q

What are the two major advantages of breastfeeding?

A
  1. passive transfer of T-cell immunity (decreases risk of allergies and GI and respiratory infections with IgA)
  2. maternal-infant bonding
138
Q

What are the contraindications to breastfeeding? (6)

A
  1. galactosemia in baby
  2. maternal HIV
  3. maternal HSV if lesions on breast
  4. acute maternal disease if absent in infant (sepsis,TB)
  5. maternal cancer receiving treatment
  6. substance abuse
139
Q

What reflexes appear at birth and disappear at the age of 4-6 months in a normal child? (5)

A
  1. moro reflex
  2. grasp reflex
  3. rooting reflex
  4. tonic neck reflex
  5. placing reflex
140
Q

What reflex appears at 6-8 months and persists throughout life?

A

parachute reflex (extension of arms when fall simulated)

141
Q

A child who is normal developmentally and has pincer grasp, creep and crowls and knows own name is most likely what age?

A

9 months

142
Q

A child who is normal developmentally and cruises, says 1 or more words, and plays ball is most likely what age?

A

12 months (1 year old)

143
Q

A child who is normal developmentally and builds 3-cube towers, walks alone, males lines and scribbles is most likely what age?

A

15 months

144
Q

A child who is normal developmentally and builds 4-cube towers, walks down stairs, says 10 words and feeds them self is most likely what age?

A

18 months

145
Q

A child who is normal developmentally and builds 7-cube towers, runs well, goes up and down stairs, jumps with 2 feet, threads shoelaces, handles spoon, and says 2-3 sentences is most likely what age?

A

24 months (2 years old)

146
Q

A child who is normal developmentally and walks downstairs alternating feet, rides tricycle, knows age and sex, and understands taking turns is most likely what age?

A

36 months (3 years old)

147
Q

A child who is normal developmentally and hops on 1 foot, throws ball overhead, tells stories and participates in group play is most likely what age?

A

48 months (4 years old)

148
Q

What is the definition of enuresis?

A

involuntary voiding of urine occurring at least twice a week for at least 3 months in a child over 5 years (has bladder control)

149
Q

What is the best initial test for a child who presents with enuresis?

A

urinalysis (look for signs of infection or diabetes insipidus)

150
Q

What is the next best step in management for a child with enuresis if the urinalysis shows signs of infection?

A

urine culture

151
Q

What is the next best step in management for a child with recurrent urinary tract infections?

A

bladder/ renal ultrasound (assess for post-void residual and anatomical abnormalities) or voiding cystourethrogram

152
Q

What is the best initial treatment for a child with primary enuresis (not due to diabetes insipidus, UTI, seizure, constipation or abuse)?

A

behavioral and motivational therapy (limit liquids, use bed alarm, never punish the child)

153
Q

What is the next best step in management for a child with primary enuresis if behavioral and motivational therapy fails?

A

imipramine and desmopressin

decreases the volume of urine production

154
Q

What is the definition of encopresis?

A

unintentional/ involuntary passage of feces in inappropriate settings (in clothes, on floor) in a child older than 4 years old (ability to control bowels)

155
Q

What is the best initial test for a child who presents with encopresis?

A

abdominal X-ray (distinguish btw retentive from constipation and overflow incontinence and nonretentive from abuse)

156
Q

What is the best initial treatment for retentive encopresis?

A

disimpaction, stool softeners and behavior interventions

157
Q

What is the best initial treatment for nonretentive encopresis?

A

behavior modification

158
Q

True or false. Immunizations should be delayed in premature infants and low-birth weight infants.

A

False

should receive immunizations at chronological age

159
Q

What is a contraindication for yellow fever vaccinations?

A

egg allergy

160
Q

What is the next best step in management for a child older than 6 months who has a known egg allergy and needs an influenza vaccination?

A

trivalent inactivated influenza vaccine (TIV) followed by 30 minute observation in facility prepared to treat anaphylaxis

161
Q

What is the normal vaccination schedule for hepatits B in children?

A

1st dose- at birth
2nd dose- 1-2 months old
3rd dose- 6-18 months old

162
Q

What is the normal vaccination schedule for rotavirus in children?

A

RV1 is 2 dose series
1st dose- 2 months old
2nd dose- 4 months old

(if given RV5 give 3rd dose at 6 months)

163
Q

What is the normal vaccination schedule for tetanus, diphtheria and pertussis in children?

A 
DTaP
1st dose- 2 months old
2nd dose- 4 months old
3rd dose- 6 months old
4th dose- 15-18 months old
5th dose- 4-6 years old
Tdap
1st dose- 11-12 years old (followed by every 10 years with Td)
164
Q

What is the normal vaccination schedule for haemophilus influenzae type B (HiB)?

A

1st dose- 2 months old
2nd dose- 4 months old
booster- 12-15 months old

(if given 3 dose version, 3rd dose at 6 months)
(dont give if pt older than 5 years old)

165
Q

What is the normal vaccination schedule for pneumococcal conjugate (PCV 13) in children?

A

1st dose- 2 months old
2nd dose- 4 months old
3rd dose- 6 months old
4th dose- 12-15 months old

166
Q

What is the normal vaccination schedule for inactivated poliovirus (IPV) in children?

A

1st dose- 2 months old
2nd dose- 4 months old
3rd dose- 6-18 months old
4th dose- 4-6 years old

167
Q

What is the normal vaccination schedule for influenza in children?

A

annual vaccination starting at age 6 months
(give 2 doses for first vaccination if btw 6 months and 8 years old)
(can give live attenuated vaccine if age 2-49 years old)

168
Q

What is the normal vaccination schedule for measles, mumps and rubella in children?

A

1st dose- 12-15 months old

2nd dose- 4-6 years old

169
Q

What is the normal vaccination schedule for varicella (chickenpox) in children?

A

1st dose- 12-15 months old

2nd dose- 4-6 years old

170
Q

What is the normal vaccination schedule for hepatitis A in children?

A

2 dose series starting at age 12-23 months old with 6-18 months between the 1st and 2nd dose

171
Q

What is the normal vaccination schedule for human papillomavirus (HPV) in children?

A

3 dose series starting at age 11-12 years old
1st dose- time 0
2nd dose- 1-2 months after 1st dose
3rd dose- 6 months after 1st dose

172
Q

What is the normal vaccination schedule for meningococcal vaccination in children?

A

1st dose- 11-12 years old
booster- 16 years old

(if pt is HIV positive, give 2nd dose at least 8 weeks after 1st dose)

173
Q

What is the next best step in management for a child aged 0-6 months old who is exposed to measles?

A

give measles immunoglobulin

174
Q

What is the next best step in management for a child aged 6-12 months who is exposed to measles?

A

give measles immunoglobulin with measles vaccine

175
Q

What is the next best step in management for a child older than 12 months who is exposed to measles?

A

give measles vaccine within 72 hours of exposure

176
Q

What is the next best step in management for a pregnant woman or immunocompromised patient who is exposed to measles?

A

give measles immunoglobulin

177
Q

What is the next best step in management for susceptible children and household contacts who are exposed to varicella (chickenpox)?

A

varicella-zoster immunoglobulin (VZIG) and varicella vaccination

178
Q

What is the next best step in management for susceptible pregnant women and newborns whose mothers had chickenpx within 5 days before delivery to 48 hours after delivery?

A

varicella-zoster immunoglobulin (VZIG)

179
Q

What is the next best step in management of a child born to a HBsAg positive mother?

A

give first dose of hep B vaccine plus hep B immunoglobulin at 2 different sites within 12 hours of birth
(followed by 2 more doses of hep B vaccine by 6 months old)

180
Q

What is the next best step in management of a child exposed to Hep A?

A

give Hep A immunoglobulin and Hep A vaccine if child older than 2 years old

181
Q

What diagnostic work-up should be performed in suspected child abuse cases? (6)

A
  1. lab studies (CBC, PT, PTT, platelets, bleeding time)
  2. skeletal survey
  3. Head CT w/ or w/out MRI (if severe injury)
  4. dilated eye exam (if severe injury, if infant)
  5. urine & stool for blood, liver & pancreatic enzymes, abdominal CT (if abdominal trauma)
  6. urine toxicology screen (if altered mental status)
182
Q

What is the best initial step in treatment of child abuse?

A

address medical and/or surgical issues

183
Q

What is the next step in management of child abuse cases after addressing medical and surgical issues?

A

report to child protective services (CPS) via phone report followed by written report (within 48 hours)

184
Q

What are the three indications for hospitalization in suspected child abuse cases?

A
  1. medical condition requires it
  2. diagnosis is unclear
  3. no alternative safe place

(get emergency court order if parents refuse hospitalization)

185
Q

A child aged 3 months to 5 years old presents with rhinorrhea, sore throat, hoarseness, deep barking cough, inspiratory stridor and tachypnea in which the symptoms are worse at night and steeple sign on neck x-ray most likely suffers from …

A

Croup

due to parainfluenza 1 or 3- enveloped ssRNA virus; influenza A or B

186
Q

What is the best treatment for Croup?

A
  1. humidified oxygen

2. nebulized epinephrine and corticosteroids

187
Q

A pt presents with sudden onset muffled voice, drooling, dysphagia, high fever, inspiratory stridor, and toxic appearance while preferring to sit in tripod position most likely suffers from …

A

Epiglottis

due to HiB- gram negative coccobacillus, Strep. pneumoniae, Strep pyogenes, S. aureus, mycoplasma

188
Q

What is the best initial step in management for a pt with suspected Epiglottis?

A
  1. transfer to hospital/OR
  2. consult ENT and anesthesia
  3. intubate
  4. give antibiotics (ceftriaxone) and steroids
    (medical emergency bc can cause airway obstruction)
189
Q

What is a characteristic findings on neck x-ray suggestive of epiglottis?

A

thumb print sign

190
Q

What is the best treatment for household contacts of a pt with H. influenza positive epiglottis?

A

Rifampin

191
Q

A child aged less than 3 years old presents with brassy cough, high fever, and respiratory distress that developed shortly after a viral URI and chest x-ray shows subglottic narrowign plus ragged tracheal air column most likely suffers from …

A

Bacterial tracheitis

due to S. aureus- gram positive coccus in clusters

192
Q

What is a potential complication of bacterial tracheitis?

A

airway obstruction (may need intubation)

193
Q

An unvaccinated/ immigrant pt presents with URI symptoms along with a gray-white pharyngeal membrane that bleeds easily most likely suffers from …

A

Diphtheritic croup

notifiable disease

194
Q

A pt presents with URI symptoms along with drooling and difficulty swallowing that developed subacutely most likely suffers from …

A

Retropharyngeal abscess

195
Q

What is the best initial treatment for angioedema (sudden allergic reaction especially to ACE inhibitors)?

A

steroids and epinephrine

intubate for airway protection if severe

196
Q

An unvaccinated child presents with severe cough that develops after 1-2 weeks with characteristic whooping and cough paroxysms most likely suffers from…

A

Pertussis (whooping cough)

197
Q

A child under age 4 years old presents with sudden onset respiratory distress (coughing/ choking), drooling, and unilateral decreased breath sounds with intercostal retractions on the same side most likely suffers from …

A

Foreign Body Aspiration

larynx if older than 1; trachea/ right main bronchus if less than 1 year old

198
Q

What is the best initial step in management for suspected acute foreign body aspiration?

A

bronchoscopy (visualize foreign body and remove it)

199
Q

A child under age 2 years old presents with mild URI, fever, paroxysmal wheezy cough, dyspnea, tachypnea, apnea (in young infant) and wheezing with prolonged expiration in the fall and winter months most likely suffers from …

A

Bronchiolitis

(inflammation of bronchioles resulting in air trapping and overinflation from ball-valve onstruction)
(due to RSV > parainfluenza, adenovirus, etc)

200
Q

What is the best initial diagnostic test and the most specific diagnostic test for bronchiolitis?

A

chest x-ray (hyperinflation with patchy atelectasis); viral antigen testing (IFA or ELISA) of nasopharyngeal swab

201
Q

What are the three indications for hospitalizing a child with bronchiolitis?

A
  1. severe tachypnea (greater than 60 breaths/ minute)
  2. pyrexia (fever)
  3. intercostal retraction
202
Q

What is the therapy used for prevention of bronchiolitis and which patients should it be used in?

A

hyperimmune RSV IVIG or monoclonal antibody to RSV F protein (palivizumab); have bronchopulmonary dysplasia or preterm

203
Q

An infant aged 1-3 months presents with insidious/ gradual onset (usually 3 weeks) with staccato cough and peripheral eosinophilia with a history of conjunctivitis as birth most likely suffers from …

A

Chlamydia trachomatis Pneumonia

unilateral lower lobe interstitial pneumonia

204
Q

What is the best initial treatment for chlamydia trachomatis pneumonia?

A

erythromyocin

also used for mycoplasma pneumonia

205
Q

What is the best outpatient treatment for bacterial pneumonia (acute onset, sudden, shaking chills, high fever, prominent cough, pleuritic chest pain, markedly diminished breath sounds, dullness to percussion) in a child?

A

amoxicillin

206
Q

What is the best inpatient treatment for bacterial pneumonia (acute onset, sudden, shaking chills, high fever, prominent cough, pleuritic chest pain, markedly diminshed breath sounds, dullness to percussion) in a child?

A

cefuroxime (add vancomycin if S. aureus suspected)

207
Q

A child presents with a history of meconium ileus (abdominal distention at birth, failure to pass meconium and bilious vomiting), failure to thrive (low weight and height), steatorrhea, rectal prolapse and persistent cough with copious purulent mucus production most likely suffers from …

A

Cystic Fibrosis

due to mutation in CFTR gene leading to thick mucus buildup

208
Q

What is the best initial diagnostic test and most accurate diagnostic test for suspected cystic fibrosis?

A

2 elevated sweat chloride concentrations (> 60 meq/L) obtained on separate days

209
Q

What diagnostic test is used to evaluate disease progression in a pt with cystic fibrosis?

A

pulmonary function testing (start at age 5-6 years old)

210
Q

What therapy has been shown to be effective (lower sweat chloride levels, improve FEV1, decrease pulmonary symptoms and exacerbations, improve weight gain) in a pt with cystic fibrosis and at least one copy of the G551D mutation?

A

Ivacaftor (VX-770)

211
Q

What three therapies have been shown to improve survival of cystic fibrosis patients?

A
  1. ibuprofen (reduces inflammation to slow decline)

2. azithromycin (slow decline of FEV1 if

212
Q

What are the therapies included in supportive care for patients with cystic fibrosis? (3)

A
  1. aerosolized albuterol/ saline treatment
  2. chest physical therapy with postural drainage
  3. pancrelipase (aids in digestion)
213
Q

What is the best antibiotic treatment in mild disease, in documented infection with pseudomonas/ S. aureus, in infection with resistant pathogen?

A

mild: macrolide, Bactrim, or ciprofloxacin
pseudomonas/ s. aureus: piperacillin with tobramycin/ ceftazidime
resistant pathogens: tobramycin

214
Q

At what age will a child presents with symptoms of hypoxia from a congenital heart defect that relies on a patent ductus arteriosis?

A

1 month

215
Q

At what age will a child present with symptoms related to a congenital heart defect that results in left to right shunting?

A

2-6 months

216
Q

What are the three conditions that suggests that a murmur in a child is an innocent murmur?

A
  1. pt has fever, infection or anxiety
  2. murmur is only systolic
  3. murmur is
217
Q

A infant presents with signs of a congenital heart defect (tachypnea, dyspnea on exertion, sweating with feeding, failure to thrive) and has a harsh holosystolic murmur over the lower left sternal border with or without a thrill and a loud pulmonic S2 most likely suffers from …

A

Ventricular Septal Defect

usually closes within 6 months

218
Q

What are the three indications for surgical repair of a ventricular septal defect?

A
  1. failure to thrive
  2. pulmonary hypertension
  3. right to left shunt > 2:1
219
Q

A infant presents with signs of a congenital heart defect (tachypnea, dyspnea on exertion, sweating with feeding, failure to thrive) and has a loud S1, wide fixed splitting of S2, and a systolic ejection murmur along the left upper sternal border most likely suffers from ..

A

Atrial Septal Defect

usually close by 4 years old if secundum type

220
Q

What are the three indications for surgical repair of an atrial septal defect?

A
  1. primary type defect
  2. sinus type defect
  3. patent foramen ovale with paradoxical embolus
221
Q

What is the next best step in management of an infant found to have an atrioventricular canal (combination of primum type atrial septal defect, ventricular septal defect and common AV valve)?

A

surgical repair in infancy before pulmonary hypertension develops

222
Q

What is the treatment for pulmonary stenosis (can result in congestive heart failure) in an infant?

A
  1. prostaglandin E1 infusion at birth

2. balloon valvuloplasty

223
Q

A premature female infant born to a rubella positive mother presents with wide pulse pressure, bounding arterial pulses, and a machine like to-and-from murmur along with signs of congestive heart failure most likely suffers from …

A

Patent Ductus Arteriosus

in development connects pulmonary artery to aorta to bypass lungs

224
Q

What is the best treatment for patent ductus arteriosus in premature infants and in term infants?

A

premature: indomethacin (induces closure)
term: surgical closure

225
Q

An infant who presents with signs of congestive heart failure and is found to have an early systolic ejection click at the apex of the left sternal border most likely suffers from …

A

Aortic Stenosis

tx: valve replacement and anticoagulation

226
Q

An infant presents around 1 month of age with signs of congestive heart failure, blood pressure higher in arms than in legs, bounding pulses in arms and decreased pulses in legs most likely suffers from …

A

Coarctation of Aorta

usually at origin of left subclavian artery

227
Q

What is the best initial step in management for an infant found to have coarctation of aorta?

A

give prostaglandin E1 (PGE1) infusion (maintains patent ductus arteriosis)

228
Q

An infant presents with hypoxia, substernal right ventricular impulse, systolic thrill along the left sternal border, intermittent hyperpnea (depth of breathing), irritability, and cyanosis with decreased intensity of murmur most likely suffers from …

A

Tetralogy of Fallot

VSD, RV hypertrophy, right outflow obstruction, overriding aorta

229
Q

What is the treatment for tetralogy of fallot?

A

oxygen, beta blocker, PGE1 infusion (if cyanosis present at birth) followed by surgical repair at 4-12 months old

230
Q

What is the most common cyanotic heart defect that presents in the immediate newborn, especially if newborn is infant of diabetic mother?

A

Transposition of the Great Vessels

loud and single S2, no murmur

231
Q

What is the treatment for transposition of great vessels?

A
  1. give prostaglandin E1 (PGE1) to maintain patent ductus

2. surgically switch aorta and pulmonary artery (asap)

232
Q

What are the four medical conditions in which antibiotic prophylaxis prior to a dental procedure is recommended?

A
  1. prosthetic valves
  2. previous endocarditis
  3. congenital heart disease (unrepaired or repaired with persistent defect)
  4. cardiac transplantation pts with cardiac valve abnormalities
233
Q

What is considered pre-hypertension in a pediatric patient?

A

blood pressure greater than 90% to less than 95%

234
Q

What is considered stage 1 hypertension and stage 2 hypertension in pediatric patient?

A

stage 1: BP greater than 95% to less than 99%

stage 2: BP greater than 99% + BP 5 mmHg

235
Q

What is the best diagnostic test to evaluate for renal causes of hypertension in a pediatric pt with a history of repeated UTIs (especially if pt is less than 5 years old)?

A

voiding cystourethrogram

236
Q

What is the best initial treatment for hypertension in a pediatric patient?

A 
lifestyle changes 
(weight control, aerobic exercise, no added salt diet, monitor blood pressure)
237
Q

What is the next best step in management of hypertension in a pediatric pt if there is no response to lifestyle modification?

A

diuretic or beta blocker

then add calcium channel blocker and ACE inhibitor if high renin state

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