Pediatrics: Case Files

Question 1

The following findings are consistent with what diagnosis?

1. Mild coagulopathy
2. Peripheral and cranial neuropathy
3. Hepatosplenomegaly
4. Pancytopenia
5. Partial oculocutaneous albinism
6. Frequent bacterial infections (usually Staph aureus)
7. Progressive lymphoproliferative syndrome

Answer 1

Chediak-Higashi syndrome

The findings of neutropenia and giant lysosomes in neutrophils will confirm the diagnosis. Treatment includes prevention of infection with daily trimethoprim-Sulfamethoxazole and daily ascorbic acid.

Question 2

Which heart condition is characterized by dyspnea that improves with squating?

Answer 2

Tetralogy of fallot

A “boot-shaped heart” is a characteristic radiographic finding.

Question 3

What 2 vitamin/nutrient deficiencies cause muscle fasciculations?

Answer 3

1. Vitamin D
2. Calcium

Question 4

What vitamin/nutrient deficiency causes hair loss?

Answer 4

Zinc

Question 5

The following signs/symptoms are characteristic of what diagnosis?

1. Lethargy
2. Poor feeding
3. Gravely ill appearance
4. Respiratory distress
5. Diminished tendon reflexes
6. Jaundice

Answer 5

Kernicterus

This is a neurologic syndrome resulting from the deposition of unconjugated bilirubin in brain cells, especially basal ganglia, globus pallidus, putamen, and caudate nuclei. Less mature or sick infants have greater susceptibility.

Question 6

What parasite can cause pernicious (B₁₂ deficiency) anemia?

Answer 6

Diphyllobothrium latum

This fish tapeworm uses vitamin B₁₂ for growth and egg production; as many as one million eggs per day may be produced. The parasite also inactivates the vitamin B₁₂-intrinsic factor complex, inhibiting absorption fro the terminal ileum. The fish tapeworm is the longest tapeworm to infect humans, sometimes growing to more than 10 meters in length. Most infestations are asymptomatic, with megaloblastic anemia occuring in 2% to 9% of tapeworm infections. Risk factors include eating raw or undercooked fish. In North America, it is most commonly seen in the northern United States, Alaska, and Canada.

Question 7

At what age is the diagnosis of delayed puberty made for

1. Girls
2. Boys

Answer 7

1. Girls > 13 years of age
2. Boys > 14 years of age

Possible causes include gonadal failure, chromosomal abnormalities, hypopituitarism, chronic disease, or malnutrition.

Question 8

What changes on screening labs will be seen in renal tubular acidosis?

Answer 8

Low bicarbonate and Increase in chloride (normal anion gap metabolic acidosis)

Low pH (acidosis) will be present but basic screening labs will not assess pH.

Question 9

The following findings are consistent with what diagnosis?

1. Chronic pruritic dermatitis
2. Recurrent staphylococcal infections (skin and respiratory tract)
3. Markedly elevated serum IgE levels
4. Eosinophilia
5. Coarse facial features

Answer 9

Hyper-IgE (Job’s ) syndrome

Recurrent staphylococcal infections involving the skin, lungs, and joints, with other features such as distinctive facial appearance, dental abnormalities and bone fractures are essential for the diagnosis.

Question 10

What is the average daily weight gain for a term infant in the first couple months of life?

Answer 10

20 to 30 grams

Adequate growth for a term infant requires approximately 100 to 120 cal/kg/day. Preterm infants require 115 to 130 cal/kg/day. VLBW (very low birth weight) infants require up to 150 cal/kg/day.

Question 11

What is the treatment for juvenile idiopathic arthritis (JIA)

Answer 11

1. Nonsteroidal anti-inflammatory drugs (NSAIDs)
2. Methotrexate
3. Glucocorticoids

Question 12

What is the most common cardiac defect seen in Down Syndrome?

Answer 12

Endocardial cushion defect

50% of patient with Down Syndrome have an associated heart defect: 60% are endocardial cushion defects, 32% are ventricular septal defects, and 6% are tetrology of Fallot.

Question 13

The following findings in a child under 4 years of age are consistent with what diagnosis?

1. Acute onset pallor
2. Acute onset irritability
3. Decreased or absent urine output
4. Stroke (may occur)
5. Petechia (may occur)
6. Edema (may occur)
7. Diarrheal illness 1-2 weeks prior to above symptoms

Answer 13

Hemolytic-uremic syndrome

This is the most common cause of acute childhood renal failure. It develops in 5% to 8% of children with diarrhea caused by enterohemorrhagic E. coli (O157:H7). It is less commonly seen after Shigella, Salmonella, and Yersinia infections. The underlying process may be microthrombi, microvascular endothelial cell injury causing microangiopathic hemolytic anemia, and consumptive thrombocytopenia. Renal glomerular deposition of an unidentified material leads to capillary wall thickening and subsequent lumen narrowing.

Question 14

The following signs/symptoms in a neonate between 2 and 5 days of birth is characteristic of what diagnosis?

1. Puffy, tense eyelids
2. Red conjunctivae
3. Copious purulent ocular discharge
4. Chemosis (swelling or edema of the conjunctivae)

Answer 14

Gonococcal ophthalmia

Gonococcal conjunctivitis usually occurs within 2 to 5 days of birth and is the most serious of the bacterial infections. Prompt aggressive topical and systemic treatment can prevent serious complications such as corneal ulceration, perforation, and blindness. In contrast, chlamydial conjunctivitis often presents 5 to 14 days after birth and the discharge is usually more watery in nature (mucopurulent) and less inflamed.

Question 15

When is the risk of dangerous defects from maternal-fetal transmission of rubella the highest?

Answer 15

First trimester

Birth defects are less likely if the mother is infected later in pregnancy. The best way to protect infants is by maternal vaccination (with the live attenuated rubella vaccine) prior to conception.

Question 16

The following are clinical features of abuse of which substance?

1. Euphoria
2. Decreased pain sensation
3. Pinpoint pupils
4. Hypothermia
5. Vasodilation
6. Possible respiratory depression

Answer 16

Opiates (heroin, morphine, codeine)

Retention time for Urine screening purposes

2 days

Question 17

What is the treatment for organophosphate poisoning?

Answer 17

1. Rapid decontamination by removing all clothing and washing all skin surfaces
2. Atropine and pralidoxime both counter the effects of organophosphates

Question 18

Moderate to severe dehydration in children should be treated with what?

Answer 18

Intravenous bolus of isotonic fluid

Oral rehydration is the initial treatment of choice in mild (3-5%) to moderate (6-9%) dehydration, but acts too slowly to adequately restore perfusion in patients with severe (10-15%) dehydration. Dextrose containing fluids are not used for initial fluid resuscitation.

Question 19

The following are clinical features of abuse of which substance?

1. Euphoria
2. Grogginess
3. Impaired short-term memory
4. Talkativeness
5. Vasodilation
6. Respiratory depression (severe intoxication)

Answer 19

Alcohol

Retention time for screening purposes

1. Blood: 7-10 hours
2. Urine: 10-13 hours

Question 20

When are pregnant women screened for gestational diabetes?

Answer 20

Between 24 and 28 weeks gestation

Earlier screening may be required in higher risk patients. Many of the congenital malformations associated with gestational diabetes are thought to result from hyperglycemia early in the pregnancy.

Question 21

What changes in genitalia occur in boys during

1. Tanner stage 2
2. Tanner stage 3
3. Tanner stage 4

Answer 21

1. Testes increase in size and skin of scrotum reddens
2. Penis grows in length
3. Penis grows in width

Question 22

The following characteristics are consistent with which diagnosis?

1. Wide-set eyes
2. Prominent nose
3. Micrognathia
4. Cleft palate
5. Holosystolic murmur
6. Immunodeficiency

Answer 22

DiGeorge syndrome (22q11 microdeletion)

This is characterized by decreased T-cell production and recurring infection. Findings include characteristic facies, and velocardiofacial defects suchs as VSD and tetrology of fallot. Thymic or parathyroid dysgenesis can occur, accompanied by hypocalcemia and seizures. Developmental speech delay are common in older patients.

Question 23

Healthy infants in the first year of life require approximately how many kcals/kg/day?

Answer 23

120 kcal/kg/day

After the first year, they require roughly 100 kcal/kg/day. Failure to thrive children require an additional 50-100% to ensure adequate catch-up growth.

Question 24

At what age is the diagnosis of precocious puberty made for

1. Girls
2. Boys

Answer 24

1. Girls with secondary sexual characteristics before age 6-8 years of age (African American girls typically undergo puberty prior to Caucasian girls)
2. Boys with secondary sexual characteristics before age 9 years of age

Question 25

What usually presents in children under the age of 2 years and is characterized by severe colicky intermittent pain that on subsidence leave the patient calm or lethargic?

Answer 25

Intussusception ## Footnote *Peristalsis is still active and attempts to propel contents past the obstruction; this creates the episodes of severe colicky intermittent pain. If the bowel becomes ischemic with resultant areas of necrosis, blood may appear, and this will usually be in the first 12 hours of the obstruction. Only 60% of infants will have the classic "currant jelly" stool composed of blood and mucus. An air-contrast enema can be diagnostic as well as therapeutic, but a pediatric surgeon should be available in case perforation occurs or if reduction is unsuccessful.*

Question 26

What are 4 complications associated with Prader-Willi syndrome?

Answer 26

1. Sleep apnea (70%) 2. Type II diabetes mellitus (25%) 3. Gastric distension/rupture 4. Death by choking (8%)

Question 27

Why must Goat's milk be boiled before being fed to infants?

Answer 27

To prevent brucellosis ## Footnote *Goats are particularly susceptible to brucellosis.*

Question 28

What diagnosis is characterized by an infant with respiratory distress when not crying and no distress while crying?

Answer 28

Choanal atresia ## Footnote *Infants are obligate nose breathers until 4 months of age, but they can breathe through their mouths while crying.*

Question 29

What therapies are initiated by 2 months of age, 6 months of age, and at 2 years of age for sickle cell disease patients.

Answer 29

* 2 months: Daily penicillin therapy * 6 months: Daily folate supplementation * 2 years: Meningococcal and 23-valent polysaccharide pneumococcal vaccines

Question 30

Pneumonia in an intubated intensive care patient with central lines is more likely to be related to what?

Answer 30

Pseudomonas aeruginosa or fungal species

Question 31

Besides administering the appropriate treatment to a patient with juvenile idiopathic arthritis (JIA), what complication should be looked for on physical exam?

Answer 31

Uveitis ## Footnote *Routine slit-lamp ophthalmic examination to monitor for uveitis is indicated, and findings include band keratopathy, posterior synechiae, and cataracts. Uveitis onset may be insidious, and may be the only initial manifestation of JIA. The disease is more common in young girls.*

Question 32

What presents in a similar fashion to acute lymphoblastic leukemia (with fever, arthralgias, arthritis, and a limp)) and may require bone marrow examination to differentiate it?

Answer 32

Juvenil rheumatiod arthritis (JRA)

Question 33

During what time period was asbestos commonly used as a fire retardant on school ceilings?

Answer 33

1940's-1970's

Question 34

What presents in a similar fashion to acute lymphoblastic leukemia (with fever, malaise, adenopathy, splenomegaly, and lymphocytosis) but is differentiated by atypical lymphocytes resembling leukemic lymphoblasts?

Answer 34

Infectious mononucleosis (Epstein-Barr virus)

Question 35

What disorder results from a deficiency of the hypoxanthine-guanine phophoribosyl transferase enzyme?

Answer 35

Lesch-Nyhan syndrome ## Footnote *This deficiency results in marked hyperuricemia. It is characterized by self-mutilation, mental retardation, and extrapyramidal symptoms (eg, dystonia, choreoathetosis).*

Question 36

Failure to thrive in the setting of elevated chloride levels, low bicarbonate, and low potassium levels is indicative of what?

Answer 36

Renal tubular Acidosis ## Footnote * Patients with renal tubular acidosis, a common cause of organic failure to thrive, can have proximal tubule defects (type 2) caused by impaired tubular bicarbonate reabsorption or distal tubule defects (type 1) caused by impaired hydrogen ion secretion. Type 4 is also a distal tubule problem associated with impaired ammoniagenesis.* * Oral bicarbonate supplementation would be expected to correct the elevated chloride level, the low bicarbonate and potassium levels (although potassium supplements may be required), and poor growth.*

Question 37

Isolated intestinal Salmonella infections do not require antibiotic treatment in children after what age?

Answer 37

3 months ## Footnote *After 3 months of age, treatment is not indicated. Antibiotics do not shorten the course of illness.*

Question 38

The following characteristics are consistent with which diagnosis? 1. Severe nodulocystic acne 2. Pectus excavatum 3. Large teeth 4. Prominent glabella 5. Long face and fingers 6. Poor fine motor skills 7. Low-normal IQ 8. Juvenile delinquent with explosive temper

Answer 38

XYY syndrome ## Footnote *Other findings include long and asymmetrical ears, and increased length vs. breadth for the hands, feet, and cranium. By age 5-6, they tend to be taller than their peers and begin displaying aggressive or defiant behavior.*

Question 39

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Xerophalmia (eye fails to produce tears) 2. Keratomalacia (softening and necrosis of the cornea) 3. Conjunctivitis 4. Poor growth 5. Impaired resistance to infection 6. Abnormal tooth enamel 7. Night blindness

Answer 39

Vitamin A

Question 40

The following findings are consistent with what diagnosis? 1. Developmental delay 2. Intrauterine growth retardation (including microcephaly) 3. Cataracts 4. Seizures 5. Hepatosplenomegaly 6. Prolonged neonatal jaundice 7. Purpura at birth

Answer 40

Congenital cytomegalovirus or toxoplasmosis infection ## Footnote *Calcified brain densities of CMV typically are found in a periventricular pattern, whereas in toxoplasmosis, they are found scattered throughout the cortex.*

Question 41

The following characteristics are consistent with which diagnosis? 1. Jaundice 2. Hepatosplenomegaly 3. Vomiting 4. Hypoglycemia 5. Seizures 6. Lethargy 7. Irritability 8. Poor feeding and failure to thrive 9. Aminoaciduria 10. Liver failure 11. Mental retardation 12. And an increased risk of E. Coli sepsis

Answer 41

Uridyl transferase deficiency *This condition causes galactosemia and is managed with a lactose-free formula*.

Question 42

A systolic murmur at the left upper and midsternal borders, and a widely split second heart sound that does not vary with respiration are both suggestive of what heart lesion?

Answer 42

Atrial septal defect (ASD) ## Footnote *The murmur is caused by high-volume bllod flow from the right ventricl into the normal pulmonary artery; the murmur is not due to blood flowing across the ASD. A lower left sternal border diastolic murmur produced by increased flow across the tricuspid valve may be present. ASDs are well tolerated during childhood but can lead to pulmonary hypertension in adulthood or atrial arrhythmias from atrial enlargement.*

Question 43

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Glossitis 2. Pharyngeal ulcers 3. Impaired cellular immunity

Answer 43

Vitamin B₉ (Folate) *This is also associated with megaloblastic anemia*.

Question 44

Angelman syndrome results from what chromosomal abnormality?

Answer 44

Deletion of the maternal copy of chromosome 15q11-q13 ## Footnote *These patients may have short stature and intellectual disability. However, other unique features include frequent smiling/laughter, hand-flapping, ataxia, and seizures.*

Question 45

The following characteristics are consistent with which diagnosis? 1. Low-set and malformed ears 2. Microcephaly 3. Rocker- bottom feet 4. Inguinal hernias 5. Cleft lip and palate 6. Micrognathia

Answer 45

Edward Syndrome (Trisomy 18) *_Other features include_:* 1. *Clenched hands with overlapping digits* 2. *Small palpebral fissures* 3. *Prominent occiput* 4. *Short sternum* 5. *Cardiac defects (VSD, ASD, PDS, and coarctation of the aorta)*

Question 46

All female children with recurrent episodes of nocturnal vulvar itching should be examined for what?

Answer 46

Pinworms ## Footnote *All children with recurrent episodes of ianal or vulvar tching that is severe at night should be examined for pinworms. Diagnosis is made using the scotch-tape test. Treatment is empirical administration of mebendazole.*

Question 47

What defect causes Type 1 renal tubular acidosis (RTA)?

Answer 47

A defect in hydrogen ion secretion ## Footnote *These patients are acidotic, hypokalemic, and have an elevated urinary pH. In children, type 1 RTA is often a genetic disorder. Patients commonly develop nephrolithiasis.*

Question 48

What is the first step in investigating a neonate's failure to pass meconium within 24 hours of birth?

Answer 48

Abdominal x-ray ## Footnote *This is always the first step as it can identify pneumoperitoneum from perforated bowel that would require emergency surgery. After pneumoperitoneum has been excluded, water-soluble contrast enema is the best next step in management.*

Question 49

What is the temporary management of choanal atresia employed while preparing for surgical intervention?

Answer 49

Endotracheal intubation ## Footnote *This bypasses the obstruction until surgery can be performed.*

Question 50

In an child, exercise-induced cyanosis and a systolic murmur that radiates to the back are suggestive of what diagnosis?

Answer 50

Pulmonary stenosis

Question 51

What is the treatment for mild or moderate lead poisoning?

Answer 51

Calcium EDTA or Succimer

Question 52

By what age should an infant double his/her birth length?

Answer 52

4 years

Question 53

What is the treatment for a child with symptomatic lead toxicity?

Answer 53

1. Admission to the hospital (removal from lead source) 2. Stabilization 3. Chelation with 2,3-dimercaptopropanol and calcium disodium ethylenediaminetetraacetic acid (CaEDTA) *Treatment for asymptomatic patients could involve simple investigation of the child's environment, outpatient chelation, or immediate hospitalization*.

Question 54

The following findings in a young boy are consistent with what diagnosis? 1. Eczema 2. Thrombocytopenia 3. Recurrent infections with encapsulated organisms

Answer 54

Wiskott-Aldrich syndrome ## Footnote *The initial manifestations often present at birth and consist of petechiae, bruises, bleeding from circumcision, or bloody stools. Immunologic findings include low IgM levels, high IgA and IgE levels, poor antibody responses to polysaccharide antigens, and moderately reduced number of T cells and platelets.*

Question 55

What are the first 3 tests that should be ordered when juvenile idiopathic arthritis (JIA) is suspected?

Answer 55

1. Complete blood count (CBC) 2. Erythrocyte sedimentation rate (ESR) 3. Blood cultures ## Footnote *Leukocytosis, thrombocytosis, and anemia support the diagnosis of systemic JIA. The ESR should be elevated but the blood cultures should be negative. Evaluation of the synovial fluid may be necessary to rule out septic arthritis, particularly in the presence of exquisitely tender joints or when only a single joint is involved. Rheumatoid factor and ANA are usually negative in systemic JIA.*

Question 56

In addition to cardiac and GI defects, what 5 other conditions are associated with Down Syndrome?

Answer 56

1. Hearing loss 2. Strabismus 3. Cataracts 4. Nystagmus 5. Congenital Hypothyroidism Longer-term consequences of DS include obesity, increased risk of leukemia, atlantoaxial (cervical spine) instability, premature aging with an increased risk of Alzheimer disease.

Question 57

What are the following developmental milestones for a 6 month old? 1. Gross motor 2. Fine motor 3. Cognitive/linguistic/communication 4. Social/Emotional

Answer 57

1. Sit with no support/Roll over 2. Look for dropped yarn/reach 3. Turn to voice/Turn to rattling sound 4. Feed self/Work for toy that is out of reach ## Footnote *50-90% of infants of this age pass this item/90% of infants this age pass this item*

Question 58

Why does physiologic jaundice (unconjugated hyperbilirubinemia) occur in approximately 60% of full-term infants and 80% of preterm infants?

Answer 58

Newborn infants have a limited ability to conjugate bilirubin and cannot readily excrete unconjugated bilirubin ## Footnote *Jaundice usually begins on the face and then progresses to the chest, abdomen, and feet. Full-term newborns usually have peak bilirubin concentrations of 5 to 6 mg/dL between the 2nd and 4th days of life.*

Question 59

The following are clinical features of abuse of which substance? 1. Euphoria 2. Increased motor activity 3. Decreased fatigability 4. Dilated pupils 5. Tachycardia 6. Hypertension and hyperthermia 7. Sometimes associated with paranoid ideation

Answer 59

Cocaine ## Footnote *_Retention time for Urine screening purposes_* *2-4 days*

Question 60

A deficiency in galactocerebrosidase characteristic of what diagnosis?

Answer 60

Krabbe's disease ## Footnote *This is characterized by hyperacusis (intolerance of everyday sounds), irritability and seizures.*

Question 61

Beyond the newborn period and through approximately 5 years of age, lower respiratory tract infections of what etiology are common?

Answer 61

Viral pneumonia is common ## Footnote *Common viruses include respiratory syncitial virus (RSV), adenovirus, rhinovirus, influenza, and parainfluenza virus. Bacterial etiologies include pneumococcus and nontypeable Haemophilus influenzae.*

Question 62

What is the cause of 50% of all lower GI bleeds in children under the age of 2 years?

Answer 62

Meckel diverticulum ## Footnote *Meckel radionuclide scan is needed to confirm the diagnosis, but it has a high false-negative rate, so a diagnostic laparoscopy may be needed. Even if the bleeding stops, surgical excision of the mucosa is often done to prevent re-bleeding, obstruction, or diverticulitis.*

Question 63

What 4 active or historical heart conditions require antibiotic prophylaxis?

Answer 63

1. History of endocarditis 2. Prosthetic valve 3. History of heart transplant 4. Severe or partially repaired cyanotic congenital heart defect

Question 64

Infants of diabetic mothers are at increased risk for what 4 congenital malformations?

Answer 64

1. Congenital heart disease 2. Neural tube defects 3. Small left colon syndrome 4. Caudal regression syndrome ## Footnote *Caudal regression syndrome is a rare congenital malformation found almost exclusively in the infant of a diabetic mother. It is characterized by hypoplasia of the sacrum and lower extremities.*

Question 65

Pneumonia in a patient with skin findings is more likely to be related to what?

Answer 65

Varicella-Zoster

Question 66

What defect causes type 2 renal tubular acidosis (RTA)?

Answer 66

A defect in bicarbonate reabsorption in the proximal tubule ## Footnote *Fanconi syndrome is a common cause in children.*

Question 67

What is the most common cause of hematochezia in infants, children, and adolescents?

Answer 67

Anal fissure

Question 68

What is the treatment for acetaminophen toxicity?

Answer 68

N-Acetylcysteine

Question 69

As part of the routine well-child care of a sickle cell disease patient, what is often recommended to identify those individuals at high risk of having a stroke?

Answer 69

Transcranial doppler (TCD) ultrasonography ## Footnote *This identifies individuals with increased flow velocity in the large cerebral blood vessels and thus at high risk for developing a first stroke. Chronic transfusions amonge these high-risk children has resulted in reduced risk of first stroke.*

Question 70

What complications of sickle cell disease are most closely associated with each of the following? 1. Fever 2. Palor 3. Abdominal pain and distension 4. Lower respiratory disease 5. Neurologic findings

Answer 70

1. Sepsis 2. Aplastic crisis 3. Splenic sequestration 4. Acute chest 5. Stroke

Question 71

The following characteristics are consistent with which diagnosis? 1. Decreased tone at birth 2. Upslanting palpebral fissures 3. Epicanthal folds 4. Redundant nuchal skin 5. Fifth finger clinodactyly and brachydactyly

Answer 71

Down Syndrome (Trisomy 21) *A single transverse palmar crease is also characteristic of Down Syndrome.* *Confirmation of the diagnosis is made with a chromosome evaluation. After confirming the diagnosis, identification of potentially life-threatening features, including cardiac and GI anomalies is appropriate.* 1. *_Clinodactyly_: Incurving of one of the digits (in DS, the fifth digit curves toward the fourth digit due to midphalanx dysplasia)* 2. *_Brachydactyly_: Excessive shortening of hand and foot tubular bones resulting in a boxlike appearance*

Question 72

Infants receiving goat's milk as a primary source of nutrition should be supplemented with what?

Answer 72

1. Folate and vitamin B12 to prevent megaloblastic anemia 2. Iron to prevent microcytic anemia

Question 73

The following characteristics are consistent with which diagnosis? 1. Wide-set eyes 2. Flattened palpebral fissures 3. Prominent epicanthus 4. Flattened nasal bridge 5. Mandibular micrognathia 6. Large, low-set, cartilage-deficient ears 7. White/grey spots in the periphery of the iris (Brushfield spots) 8. Hypotonia at birth with a poor moro reflex

Answer 73

Potter's disease ## Footnote *This condition is characterized by a lack of normal infant kidney, causing reduced urine output, oligohydramnios, and constraint deformities.*

Question 74

Why do lead levels tend to rise again following chelation therapy?

Answer 74

Lead deposits in bone, and chelation does not remove all lead from the body ## Footnote *A rising lead level following chelation therapy is thought to be a redistribution of lead stored in bone. Repeat chelation is only recommended if the blood lead level rebounds to 45 ug/dL or higher.*

Question 75

Approximately 12% of Down Syndrome infants have which GI anomaly?

Answer 75

Intestinal atresia ## Footnote *This is usually duodenal atresia.*

Question 76

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Neuritis 2. Edema 3. Cardiac failure 4. Hoarseness 5. Anorexia 6. Restlessness 7. Aphonia (inability to produce voice)

Answer 76

Vitamin B₁ (Thiamine)

Question 77

What are 4 acyanotic heart lesions?

Answer 77

1. Ventricular septal defect 2. Atrial septal defect 3. Atrioventricular septal defect 4. Patent ductus arteriosus

Question 78

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Hemorrhagic manifestations

Answer 78

Vitamin K

Question 79

Pneumonia in a patient with concomitant retinitis is more likely to be related to what?

Answer 79

Cytomegalovirus (CMV)

Question 80

The following signs/symptoms in a neonate during the first few days of life are characteristic of what diagnosis? 1. Irritability 2. High-pitched cry 3. Poor sleeping 4. Tremors 5. Seizures 6. Sweating 7. Sneezing 8. Tachypnea 9. Poor feeding 10. Vomiting 11. Diarrhea

Answer 80

Neonatal abstinence syndrome (NAS) ## Footnote *This is caused by infant withdrawal to opiates and usually presents in the first few days of life. Treatment for NAS includes symptomatic care to calm the infant and help the infant sleep, such as swaddling, providing small frequent feeds, and keeping the infant in a low stimulation environment. Morphine can be administered and systematically weaned to help control opiate withdrawal.*

Question 81

There is increased risk for early-onset neonatal group streptococcus (GBS) disease when delivery occurs how many hours after rupture of membranes?

Answer 81

\>18 hours ## Footnote *Other factors associated with early-onset GBS infection include chorioamnionitis, intrapartum temperature \>100.4F, mother with a previous infant with GBS infection, maternal age*

Question 82

Which vaccines should an infant recieve at the age of 4 months?

Answer 82

The second doses of the vaccinations recieved at 2 months, with the exception of the Hepatitis B vaccine ## Footnote *This includes Rotavirus (RV), Dtap, Haemophilus Influenzae B (Hib), Pneumococcal conjugate (PCV13), Inactivated poliovirus (IPV)*

Question 83

The following characteristics are consistent with which diagnosis? 1. Diarrhea/defecation 2. Urination 3. Miosis 4. Brachycardia 5. Bronchorrhea 6. Emesis/excitation of muscles 7. Lacrimation 8. Salivation

Answer 83

Organophosphate poisoning ## Footnote *Organophosphates are commonly found in pesticides and bind irreversibly to cholinesterase of neurons and erythrocytes, as well as to liver pseudocholinesterase. The common finding is failure to terminate the effects of acetylcholine at the receptor sites. Signs and symptoms of cholinergic excess are often remembered with the mneumonic "dumbbells".*

Question 84

How is the diagnosis of chronic granulomatous disease made?

Answer 84

Nitroblue tetrazolium (NBT) slide test, flow cytometry, or cytochrome C reduction

Question 85

A deficiency in glucocerebrosidase is characteristic of what diagnosis?

Answer 85

Gaucher's disease ## Footnote *It is characterized by hepatosplenomegaly, anemia, leucopenia, and thrombocytopenia. It is not characterized by a cherry red macula (as seen in Tay-Sach's disease and Niemann-Pick's disease).*

Question 86

Deficiency of sphingomyelinase is characteristic of what diagnosis?

Answer 86

Niemann-Pick's disease ## Footnote *This is characterized by a cherry red macula, protruding abdomen, hepatosplenomegaly, lymphadenopathy, and regression of developmental milestones.*

Question 87

Recurrent infections with the following organisms is characteristic of what diagnosis? 1. Staph Aureus 2. Serratia marcescens 3. Burkholderia cepacia 4. Klebsiella 5. Aspergillus

Answer 87

Chronic granulomatous disease ## Footnote *Patients are susceptible to catalase-positive bacteria.*

Question 88

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Depression (Rare) 2. Hypotension 3. Muscle weakness 4. Abdominal pain

Answer 88

Vitamin B₅ (Pantothenic acid)

Question 89

What comprises approximately 40% of all pediatric malignancies?

Answer 89

Leukemia ## Footnote *75% are acute lymphoblastic leukemia (ALL), 20% are myeloblastic leukemia (AML). The clinical manifestations of AML and ALL are similar.*

Question 90

What class of antiretroviral do the following drugs belong to? 1. Indinavir 2. Nelfinavir 3. Ritonavir

Answer 90

Protease inhibitors

Question 91

What are the following developmental milestones for a 2 month old? 1. Gross motor 2. Fine motor 3. Cognitive/linguistic/communication 4. Social/Emotional

Answer 91

1. Head up 45 degrees/Lift head 2. Follow past midline/Follow to midline 3. Laugh/Vocalize 4. Smile spontaneously/Smile responsively ## Footnote *50-90% of infants of this age pass this item/90% of infants this age pass this item*

Question 92

The following are clinical features of abuse of which substance? 1. Euphoria 2. Increased sensual awareness 3. Increased psychic and emotional energy 4. Nausea 5. Teeth grinding 6. Tachycardia 7. Blurred vision 8. Jaw clenching 9. Anxiety 10. Panic attacks 11. Psychosis

Answer 92

Methamphetamines and Ecstasy ## Footnote *_Retention time for Urine screening purposes_* *2 days*

Question 93

What 3 findings may be present in an infant exposed to methyl mercury in utero?

Answer 93

1. Low birth weight 2. Microcephaly 3. Seizures ## Footnote *They also dysplay significant developmental delay and can have vision and hearing impairments.*

Question 94

What vitamins/nutrients are higher in cow's milk than goat's milk?

Answer 94

1. Sodium 2. Vitamin D 3. Iron 4. Folate 5. Vitamin B₁₂

Question 95

What is the likely diagnosis in an infant younger than a year of age who has an asymptomatic right upper quadrant abdominal mass and pallor, but no jaundice?

Answer 95

Neuroblastoma

Question 96

At what age do children often become picky eaters, often causing their growth rates to plateau?

Answer 96

Between 18-30 months of age ## Footnote *Effective measures include calm counseling of parents to provide nutrition, avoid force-feeding, and avoid providing snacks; and close follow-up.*

Question 97

How long after initial group A strep pharyngitis does acute post-streptococcal glomerulonephritis occur?

Answer 97

1-2 weeks *The interval between group A strep impetigo and acute post-streptococcal glomerulonephritis is 3-6 weeks. Symptom onset is abrupt. Although almost all patients have microscopic hematuria, only 30%-50% develop gross hematuria. In addition, 85% present with edema and 60%-80% develop hypertension.*

Question 98

Breast milk is considered the ideal human infant food because it contains complete nutrition with the exception of what?

Answer 98

Vitamin D and fluoride ## Footnote *In addition it has antimicrobial properties and offers psychological advantages to mothers and infants.*

Question 99

What is the treatment of iron poisoning?

Answer 99

Intavenous deferoxamine ## Footnote *Deferoxamine binds ferric iron and allows it to be excreted in the urine.*

Question 100

What are 4 positive prognostic factors for acute lymphoblastic leukemia?

Answer 100

1. Female gender 2. Age between 1 and 10 years 3. Lower leukocyte counts (especially below 50,000/mm³) 4. B-cell immunophenotype (T-cell immunophenotype has worse prognosis)

Question 101

Pneumonia in a patient with exposure to sheep or cattle is more likely to be related to what?

Answer 101

Coxiella brunetti

Question 102

What is the likely heart lesion in an asymptomatic child with a harsh, left lower sternal border holosystolic murmur?

Answer 102

A small ventricular septal defect (VSD) ## Footnote *The murmur of a large VSD may be less harsh because of the absence of significant pressure gradient across the defect.*

Question 103

After X-rays are taken, what is the next step in investigating a newborn's failure to pass meconium in the first 24 hours of birth?

Answer 103

Water-soluble contrast enema ## Footnote *The appearance of a microcolon on contrast enema should raise concern for meconium ileus (virtually pathognomonic for cystic fibrosis). If contrast enema demonstrates a transition zone between a narrow rectosigmoid and a dilated megacolon, workup for congenital aganglionic megacolon (Hirschsprung disease) should be pursued.*

Question 104

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Osteomalacia 2. Infantile tetany 3. Rickets (with elevated serum phosphatase levels appearing before bone deformities)

Answer 104

Vitamin D

Question 105

What is the most frequently diagnosed neoplasm in infants?

Answer 105

Neuroblastoma ## Footnote *More than half of patients present before 2 years of age. It may present as a painless mass in the neck, chest, or abdomen. Fever, pallor, and weight loss are frequent presenting symptoms.*

Question 106

The following characteristics are consistent with which diagnosis? 1. Short stature 2. Hypertension 3. Low posterior hairline 4. Prominent and low-set ears 5. Excessive nuchal skin 6. Primary amenorrhea

Answer 106

Turner Syndrome (XO) Other features include widely spaced nipples and a broad chest, cubitus valgus (increased carrying angle of arms), edema of the hands and feet in the newborn period, congenital heart disease (coarctation of the aorta or bicuspid aortic valve), horseshoe kidney, short 4th metacarpal/metatarsal, hypothyroidism, decreased hearing, and normal mental development.

Question 107

The following characteristics are associated with what vitamin/nutrient deficiency? _Younger patients_ 1. Irritability 2. Convulsions 3. Anemia _Older patients_ 1. Dermatitis 2. Glossitis 3. Cheilosis 4. Peripheral neuritis

Answer 107

Vitamin B₆ (Pyridoxine)

Question 108

What is the treatment for Hemolytic-uremic syndrome?

Answer 108

Supportive measures ## Footnote *Some children require dialysis. Most children recover and regain normal renal function; all are followed after infection for hypertension and chronic renal failure.*

Question 109

What are the following developmental milestones for a 9 month old? 1. Gross motor 2. Fine motor 3. Cognitive/linguistic/communication 4. Social/Emotional

Answer 109

1. Pull to a stand/Stand holding on to something 2. Take 2 cubes/Pass cube 3. Dada and mama, nonspecifically/Single syllables 4. Wave bye-bye/Feed self ## Footnote *50-90% of infants of this age pass this item/90% of infants this age pass this item*

Question 110

Recurrent painless gross hematuria, frequently associated with an upper respiratory tract infection, is typical of what diagnosis?

Answer 110

IgA nephropathy ## Footnote *These patients may develop chronic renal disease over decades. If proteinuria, hypertension, or impaired renal function were found, a biopsy would be necessary.*

Question 111

The following are clinical features of abuse of which substance? 1. Sedation 2. Pinpoint pupils 3. Hypotension 4. Bradycardia 5. Hypothermia 6. Hyporeflexia 7. CNS and respiratory depression

Answer 111

Barbiturates *_Retention time for Urine screening purposes_* 1. *1 day for short-acting agents* 2. *2-3 weeks for long-acting agents*

Question 112

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Easy bruising w/ petechiae 2. Gum disease 3. Loosening of teeth 4. Poor wound healing 5. Emotional changes

Answer 112

Vitamin C (Ascorbic acid)

Question 113

Airway inflammation in asthma is a result of what?

Answer 113

Mast cell activation ## Footnote *An immediate immunoglobulin E response to environmental triggers occurs within 15 to 30 minutes and includes vasodilation, increased vascular permeability, smooth-muscle constriction, and mucus secretion. 2-4 hours after this acute response, a late-phase reaction (LPR) begins. This is characterized by infiltration of inflammatory cells into the airway parenchyma, and is responsible for the chronic inflammation seen in asthma. Airway hyperresponsiveness may persist for weeks after the LPR.*

Question 114

Which sequela of Group A strep infection is not prevented by antibiotic administration?

Answer 114

Acute post-streptococcal glomerulonephritis (APSGN) ## Footnote *Antibiotic use during the initial group A strep infection may reduce the subsequent rheumatic fever risk, yet has not been shown to prevent APSGN. The nephritis risk after infection with a nephritogenic strain of Group A strep remains 10%-15%.*

Question 115

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Hemolytic anemia in premature infants

Answer 115

Vitamin E

Question 116

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Dermatitis 2. Seborrhea 3. Anorexia 4. Muscle pain 5. Pallor 6. Alopecia

Answer 116

Vitamin B₇ (Biotin)

Question 117

The following characteristics are consistent with which diagnosis? 1. Macrocephaly 2. Long face 3. High arched palate 4. Large ears 5. Macroorchidisim (after puberty) 6. Mental retardation

Answer 117

Fragile X syndrome ## Footnote *This is the most common form of inherited mental retardation. It usually occurs in boys.*

Question 118

The following signs/symptoms are characteristic of what diagnosis? 1. Leg/joint pain 2. Fever 3. Petechia 4. Hepatosplenomegaly 5. Anorexia 6. Irritability 7. Lethargy 8. Pallor 9. Bleeding

Answer 118

Acute lymphoblastic leukemia (ALL) ## Footnote *Most of the signs and symptoms of ALL result from either replacement of normal bone marrow components with clonal proliferation of a single lymphoblast that has undergone malignant transformation, or from infiltrates of extramedullary sites by these malignant lymphoid cells. Rapid diagnosis and referral to a pediatric cancer center can increase survival.*

Question 119

What class of antiretroviral do the following drugs belong to? 1. Efavirenz 2. Nevirapine 3. Delavirdine

Answer 119

Non-Nucleoside reverse transcriptase inhibitors (NNRTI)

Question 120

An adolescent with complaints of a dry cough, low-grade fever, and fatigue over the course of 2 weeks is consistent with what diagnosis?

Answer 120

Mycoplasm pneumoniae infection ## Footnote *This is also known as walking pneumonia. The incubation period for Mycoplasma is 5-7 days, and most symptoms are noted during the second to third week of infection. Hemolysis occurs as antibodies attach to red blood cells, prompting reticulocyte production. Chest x-ray could be normal or show an interstitial pattern, effusion, or atelectasis.*

Question 121

What is the most common rheumatologic disorder in children?

Answer 121

Juvenile idiopathic arthritis (JIA)

Question 122

Breast-fed infants of mothers who adhere to a strict vegan diet are at risk for what vitamin deficiency?

Answer 122

Vitamin B₁₂ ## Footnote *Vitamin B₁₂ deficiency can also occur when the terminal ileum is absent or when infectious or inflammatory conditions compromise intestinal function.*

Question 123

What are the common causative organisms of otitis externa?

Answer 123

1. Pseudomonas species 2. Staph aureus 3. Candida or aspergillus (occaisionally)

Question 124

What vitamins/nutrients are higher in goat's milk than cow's milk?

Answer 124

1. Potassium 2. Chloride 3. Linoleic acid 4. Arachidonic acid

Question 125

The following signs/symptoms in a child are characteristic of what diagnosis? 1. Anorexia 2. Hyperirritability 3. Altered sleep pattern 4. Decreased play 5. Developmental regression (especially with speech) 6. Abdominal complaints (vomiting, intermittent pain, constipation)

Answer 125

Lead toxicity ## Footnote *Permanent, long-term consequences include learning and cognitive defecits and aggressive behavior.*

Question 126

The following characteristics are consistent with which diagnosis? 1. Small for gestational age 2. Cutis aplasia of the scalp 3. Polydactyly 4. Micropthalmia 5. Omphalocele 6. Microcephaly with sloping forehead

Answer 126

Patau Syndrome (Trisomy 13) *_Other common features include_:* 1. *Holoprosencephaly (failure of growth of the forebrain)* 2. *Cleft lip or palate* 3. *Postaxial polydactyly* 4. *Flexed and overlapping fingers* 5. *Cardiac defects (_VSD_, ASD, PDA, and dextrocardia)* *_Cutis aplasia_: Missing portion of skin and hair*

Question 127

Absence of a red reflex may indicate which underlying abnormalities?

Answer 127

1. Cataracts 2. Glaucoma 3. Retinoblastoma 4. Chorioretinitis

Question 128

At what tanner stage in girls do the nipple and areola form a separate mound, protruding from the breast?

Answer 128

Breast tanner stage 4 ## Footnote *The areola rejoins the breast contour and development is completed around age 12.5-18.5 years.*

Question 129

What presents in a similar fashion to acute lymphoblastic leukemia (with bruising and petechia) but is differentiated by the absence of anemia, leukocyte disturbances, and hepatosplenomegaly?

Answer 129

Idiopathic thrombocytopenic purpura (ITP)

Question 130

The sudden onset of respiratory symptoms in a previously healthy infant, particularly in association with fever, is most consistent with what diagnosis?

Answer 130

Bronchiolitis ## Footnote *Initial treatment is with oxygen and a trial of nebulized alvuterol or epinephrine. A bllod gass measurement should be obtained immediately for any patient who presents in severe respiratory distress. Chest radiographs in infants with bronchiolitis typically show hyperinflated lungs with areas of atelectasis. Respiratory syncytial virus and influenza A are common causes of bronchiolitis in infants in the wintertime.*

Question 131

What should be given to a term neonate with known coarctation of the aorta who develops sudden respiratory distress sometime in the first 3 weeks of life?

Answer 131

Prostaglandins ## Footnote *The symptoms are likely due to the ductus arteriosus begining to close. The ductus usually begins to close during the first or second day of life in term infants and is fully closed by 3 weeks. Prostaglandin therapy can reverse this process in the short-term. Surgery or catheterization techniques provide definitive repair.*

Question 132

By what age should an infant double and triple his/her birth weight?

Answer 132

1. Double: 4-5 months 2. Triple: 12 months ## Footnote *Infants should regain their birth weight by 2 weeks.*

Question 133

What is the treatment for otitis externa?

Answer 133

Topical mixture of polymyxin and corticosteroids

Question 134

When does PCP prophylaxis in the form of TMP-SMX begin for HIV-positive infants?

Answer 134

Approximately 6 weeks of age

Question 135

Prader-Willi syndrome results from what chromosomal abnormality?

Answer 135

Deletion of the paternal copy of chromosome 15q11-q13 ## Footnote *This results in poor suck and feeding problems in infancy followed by a life of compulsive binge-eating and obesity-related problems.*

Question 136

Respiratory distress syndrome, polycythemia with hyperviscosity syndrome, hypocalcemia, hypomagnesemia, and hyperbilirubinemia are all possible neonatal sequelae of what?

Answer 136

Gestational diabetes ## Footnote *Fetal hyperinsulinism is a response to poorly controlled maternal hyperglycemia resulting in fetal macrosomia and increased fetal oxygen requirements. These two factors can make the birth process difficult and result in neonatal distress. Many of the congenital malformations associated with gestational diabetes are thought to result from hyperglycemia early in the pregnancy.*

Question 137

The following signs/symptoms are characteristic of what diagnosis? 1. Ataxia 2. Tremor 3. Dysarthria 4. Memory loss 5. Altered sensorium (Including vision, hearing, smell, and taste) 6. Dementia

Answer 137

Methyl mercury toxicity ## Footnote *This ultimately will cause death.*

Question 138

What is the most common heart lesion in children?

Answer 138

Ventricular septal defect (VSD) ## Footnote *It occurs in 3-6 of every 1000 live term births. The majority of VSDs occur in the membranous portion of the septum, and small VSDs with minimal left-to-right shunts are the most common.*

Question 139

What must breast milk be supplemented with when an infant is 4-6 months of age?

Answer 139

Iron ## Footnote *Iron levels are low in breast milk, but highly bioavailable and do not require supplementation until 4-6 months of age.*

Question 140

1. It is important to never give regular cow's milk to an individual under what age? 2. Why?

Answer 140

1. 12 months of age 2. Infants do not tolerate the protein mixture of unaltered cow's milk and may develop colitis, causing microscopic bleeding and gradually worsening anemia.

Question 141

What is the first step in management of a neonate with a heart rate \< 60bpm immediately after birth?

Answer 141

Endotracheal intubation with positive pressure ventilation of 100% O₂

Question 142

1. Where is intrisic factor produced? 2. Where is it absorbed?

Answer 142

1. Gastirc antrum 2. Terminal ileum

Question 143

What differentiates a benign pulmonary flow murmur from a pathologic pulmonary murmur?

Answer 143

A murmur that radiates and/or has an audible click is more likely pathologic ## Footnote *Signs/symptoms of cardiac disease (digital clubbing, cyanosis, and exercise intolerance) are all suggestive of pathology.*

Question 144

What is characterized by nocturnal hypoglycemic episodes that are manifested as night terrors, headaches, or early morning sweating and then presents a few hours later with hyperglycemia, ketonuria, and glucosuria?

Answer 144

Somogyi phenomenon ## Footnote *The counter-regulatory hormones cause hyperglycemia in response to hypoglycemia. The causes of Somogyi phenomenon include excess or ill-timed insulin, missed meals or snacks, and inadvertent insulin administration. It occurs in diabetes mellitus type 1 and is less common in diabetes mellitus type 2.*

Question 145

What condition is characterized as a disorder of movement or posture resulting from an insult to, or an anomaly of, the central nervous system.

Answer 145

Cerebral palsy ## Footnote *Most children with cerebral palsy have no identifiable risk factors for the disorder.*

Question 146

What is the treatment for an infant with chlamydial conjunctivitis or pneumonia presenting after the first 2 months of life?

Answer 146

Oral Sulfisoxazole for 2 weeks

Question 147

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

Answer 147

1. Prone sleep position (Babies should sleep on their backs) 2. Cigarette smoke exposure

Question 148

What presents in a similar fashion to acute lymphoblastic leukemia (with pancytopenia and fever) but is differentiated by the absence of lymphadenopathy, arthralgias, bone pain, and hepatosplenomegaly?

Answer 148

Aplastic anemia

Question 149

Which 6 vaccines are given at 2 months of age?

Answer 149

1. Diptheria, tetanus, and acellular pertussis (Dtap) 2. Haemophilus Influenzae type B (Hib) 3. Inactivated Poliovirus (IPV) 4. Pneumococcal conjugate (PCV13) 5. Rotavirus (RV) 6. 2nd dose of Hepatitis B (HepB)

Question 150

Which disorder is characterized by recurrent cutaneous, gastrointestinal, or pulmonary infections that occur with opportunistic organisms such as cytomegalovirus (CMV) and pneumocystis pneumonia (PCP)?

Answer 150

Severe combined immunodeficiency (SCID) ## Footnote *Serum immunoglobulins and T cells are often markedly diminished or absent in SCID. Thymic dysgenesis is also seen. Death typically occurs in the first 12-24 months of life unless bone marrow transplantation is performed.*

Question 151

How many weeks of cromolyn or nedocromil therapy does it take before the drugs become effective?

Answer 151

2-4 weeks ## Footnote *These drugs function by reducing the immune response to allergen exposures. They are only successful in 75% of patients.*

Question 152

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Photophobia 2. Cheilosis (inflammation of the corners of the mouth) 3. Glossitis 4. Corneal Vascularization 5. Poor growth

Answer 152

Vitamin B₂ (Riboflavin)

Question 153

What are the following developmental milestones for a 4 month old? 1. Gross motor 2. Fine motor 3. Cognitive/linguistic/communication 4. Social/Emotional

Answer 153

1. Roll over/Sit with head steady 2. Follow to 180 degrees/Grasp rattle 3. Turn to rattling sound/Laugh 4. -/Regard own hand ## Footnote *50-90% of infants of this age pass this item/90% of infants this age pass this item*

Question 154

DNA testing of someone with Cystic fibrosis will show what?

Answer 154

Mutations in the long arm of chromosome 7 ## Footnote *The most common such mutation is a single phenylalanine deletion at amino acid 508 (Delta508). The disease shows autosomal recessive inheritance.*

Question 155

Pneumonia in a patient with recent exposure to stagnant water is more likely to be related to what?

Answer 155

Legionella pneumophila

Question 156

Cough and increased respiratory effort in an afebrile infant with eye discharge are findings consistent with what?

Answer 156

Chlamydia trachomatis ## Footnote *Transmission typically occurs during vaginal delivery and infants typically present with respiratory infection in the second month of life (but symptoms can be seen as early as the second week).*

Question 157

Which age group is the cause of hematochezia most often a life-threatening condition?

Answer 157

Newborns ## Footnote *In infants and children the cause of hematochezia is more often benign.*

Question 158

Pneumonia in a patient with chronic lung disease is more likely to be related to what?

Answer 158

Pseudomonas aeruginosa or Aspergillus

Question 159

What is the appropriate approach to mammary gland enlargement and non-purulent vaginal discharge in a newborn?

Answer 159

Observation and routine care ## Footnote *These are common findings in newborn infants. They are benign, transitory events which represent the infant's physiologic target-organ response to transplacentally acquired maternal hormones (estrogens). No work-up is necessary, and routine care should be provided to the infant.*

Question 160

Pneumonia in a patient with recent travel to the southwestern United States is more likely to be related to what?

Answer 160

Coccidioides immitis

Question 161

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Pernicious anemia 2. Neurologic deterioration 3. Methylmalonic acidemia

Answer 161

Vitamin B₁₂ (Cobalamin)

Question 162

Lower respiratory tract infections in the first few days of life are more commonly caused by what?

Answer 162

Group B streptococcus (GBS) and Enterobacteriaceae ## Footnote *Other possibilities include staphylococcus aureus, streptococcus pneumoniae (pneumococcus), and Listeria monocytogenes. In the newborn with pneumonea, broad-spectrum antimicrobials (ampicillin + gentamicin or cefotaxime) are customarily prescribed.*

Question 163

What is the management of transposition of the great arteries (TGA)?

Answer 163

1. Prostaglandins to maintain a patent ductus arteriosus 2. Creation of an atrial septum via cardiac catheterization, which provides immediate symptom palliation 3. Definitive surgical care often occurs in the first 2 weeks of life ## Footnote *Postoperative stenosis at the repair sites is a potential long-term complication.*

Question 164

The following characteristics are consistent with which diagnosis? 1. Developmental delay 2. Immature/insecure behavior 3. Gynecomastia 4. Hypogonadism 5. Long limbs

Answer 164

Klinefelter Syndrome (XXY)

Question 165

What usually presents in boys prior to 3 months of age and ischaracterized by more frequent stools and blood streaked stools?

Answer 165

Allergic proctocolitis ## Footnote *This is induced by allergy to the protein in cow's milk. Standard infant formulas are composed of this protein. Soy protein is similar in structure so cross-allergy often exists. The protein can cross over into breast milk so the breast feeding mother must either remove cow's milk from her diet or the infant must be switched to an elemental formula (containing amino acids rather than proteins). If the inciting protein is not removed from the diet, the infant can progress to enterocolitis with resulting severe diarrhea, malabsorption, vomiting, and dehydration. There may be a family history of atopy.*

Question 166

What would present in a neonate with a negative coombs test, a normal (or low) hemoglobin, a normal (or mildly elevated) reticulocyte cound, and prolonged hyperbilirubinemia?

Answer 166

Gilbert syndrome ## Footnote *Gilbert syndrome is a benign condition that does not require treatment; it has a prevalence rate of 2% to 10%. It is a genetic disorder of bilirubin metabolism, involving a decrease in the activity level of uridine diphosphate (UDP)-glucuronosyltransferase 1A1.*

Question 167

Why is there often increased wheezing on auscultation of an asthmatic following treatment with albuterol?

Answer 167

Lung areas that were previously closed are no opening, allowing additional airflow

Question 168

How is the diagnosis of leukemia made?

Answer 168

Examination of the bone marrow ## Footnote *Leukemic blasts may not be seen in the peripheral blood smear, so leukemia is established by examination of bone marrow, most commonly aspirated from the posterior iliac crest. Normal marrow contains less than 5% blasts. A minimum of 25% blasts confirms the diagnosis of leukemia.*

Question 169

What should be considered in any patient with recurrent or unusual lymphadenitis, hepatic abscesses, osteomyelitis at multiple sites, or unusual infections with catalase-positive organisms?

Answer 169

Chronic granulomatous disease ## Footnote *Catalase-positive organisms include Staph Aureus, Klebsiella, Aspergillus, Serratia marcescens, and Burkholderia cepacia.*

Question 170

In a neonate, O₂ saturation measured from the lower extremity that is \>3-5% higher than O₂ saturations measured from the upper extremity or from the earlobe are suggestive of what diagnosis?

Answer 170

Ductus dependent heart lesion ## Footnote *This occurs because oxygenated blood from a patent ductus arteriosus is often down stream of the outflow tract to the head or upper extremity.*

Question 171

What is the treatment of choice for idiopathic central precocious puberty?

Answer 171

Gonadotropin releasing hormone (GnRH) agonists ## Footnote *These analogues desensitize the gonadotropic cells of the pituitary to the stimulatory effect of GnRH produced by the hypothalamus. Nearly all boys and most girls with rapidly progressive precocious puberty are candidates for treatment. Girls with slowly progressive puberty do not seem to benefit from GnRH agonist therapy in adult height prognosis.*

Question 172

What presents with a delay in passing meconium after birth and can progress to bloody stools and even diarrhea?

Answer 172

Hirschsprung disease ## Footnote *It can progress to toxic megacolon and enterocolitis with is when it will present with bloody stools and diarrhea.*

Question 173

What are 3 risk factors for developing acute lymphoblastic leukemia (ALL)?

Answer 173

1. Age 2-4 yrs 2. Male gender 3. Chromosomal abnormalities such as Down syndrome and fanconi anemia

Question 174

A breast-feeding vegan should supplement her infant's or toddler's diet with what?

Answer 174

Vitamin B12 *This is to prevent methylmalonic acidemia and trace minerals*.

Question 175

What is the treatment for chronic granulomatous disease?

Answer 175

Daily Trimethoprim-Sulfamethoxazole and gamma-interferon 3 times per week. ## Footnote *Bone marrow transplantation is experimental but curative.*

Question 176

Pneumonia in a patient with a history of spelunking or working on a farm east of the Rocky Mountains is more likely to be related to what?

Answer 176

Histoplasma capsulatum

Question 177

Meconium ileus in the newborn period is nearly pathognomonic for what?

Answer 177

Cystic fibrosis

Question 178

The pediatric patient older than approximately 5 years of age with lower respiratory tract infection is typically infected with what?

Answer 178

Mycoplasma ## Footnote *Antibiotics in this age group are directed toward mycoplasma and typical bacteria (pneumococcus). Treatment options include macrolides (azithromycin), or cephalosporins (ceftriaxone or cefuroxime).*

Question 179

What test can be done to differentiate between maternal and fetal hemoglobin?

Answer 179

APT test ## Footnote *This test works because infant's blood is alkali-resistant.*

Question 180

Extremely elevated WBC counts (~50,000 cells/mm³) in an immunocompromised individual is consistent with which diagnosis?

Answer 180

Leukocyte adhesion deficiency (LAD) ## Footnote *LAD is an inheritable disorder of leukocyte chemotaxis and adherence characterized by recurrent sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing.*

Question 181

Pneumonia in a patient with a fungal ball on chest radiograph is more likely to be related to what?

Answer 181

Aspergillus

Question 182

When does sudden infant death syndrome (SIDS) typically occur?

Answer 182

Between 1 and 5 months ## Footnote *Peak incidence is between 2 and 4 months and it occurs more frequently in winter. It occurs more frequently in African-American and Native-American infants.*

Question 183

The following findings in a neonate are consistent with what diagnosis? 1. Bilious emesis 2. Abdominal distension 3. "Triple bubble" sign and gasless colong on x-ray

Answer 183

Jejunal atresia ## Footnote *Risk factors include prenatal exposure to cocaine and other vasoconstrictive drugs.*

Question 184

What potentially life-threatening complication of diabetic ketoacidosis treatment presents as headache, personality changes, vomiting, and decreased reflexes?

Answer 184

Cerebral edema

Question 185

The following signs in a newborn are suggestive of what diagnosis? 1. Immediate respiratory distress 2. Scaphoid (concave) abdomen 3. Cyanosis 4. Heart sounds displaced to the right of the chest

Answer 185

Diaphragmatic hernia ## Footnote *The first step in management is endotracheal intubation.*

Question 186

The following findings in a newborn are consistent with what diagnosis? 1. Deafness 2. Cataracts 3. Cardiac defects

Answer 186

Congenital rubella syndrome ## Footnote *These newborns may also have microcephaly, microphthalmia and miningoencephalitis; however, these symptoms are characteristically accompanied by sensorineural deafness, cardiac anomalies (Persistant ductus arteriosus, atrial septal defects), congenital glaucoma and cataracts.*

Question 187

What class of antiretroviral do the following drugs belong to? 1. Didanosine 2. Stavudine 3. Zidovudine

Answer 187

Nucleoside reverse transcriptase inhibitors (NRTI)

Question 188

In addition to a bone marrow examination, what is included in the workup of leukemia?

Answer 188

1. Lumbar puncture to examine the central nervous system for early leukemic involvement (higher number of blasts in the CSF is associated with a worse prognosis) 2. Chest x-ray to detect a mediastinal mass

Question 189

Which disorder is characterized by recurring sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing?

Answer 189

Leukocyte adhesion deficiency (LAD) ## Footnote *Neutrophilia is a common finding of LAD with WBC counts typically more than 50,000 cells/mm³. Severe, life-threatening infection is possible with staphylococcus species, enterobacteriaceae, and candida species. Good skin and oral hygiene are important. Broad-spectrum antimicrobials and surgical debridement are early considerations with infection.*

Question 190

What agent is used to treat tricyclic antidepressant or aspirin overdoses?

Answer 190

Sodium bicarbonate

Question 191

Jaundice presenting within the first 24 hours of life requires immediate attention and might be caused by what 6 conditions?

Answer 191

1. Erythroblastosis fetalis 2. Hemorrhage 3. Sepsis 4. Cytomegalic inclusion disease 5. Rubella 6. Congenital toxoplasmosis

Question 192

What is the treatment for an infant with chlamydial conjunctivitis or pneumonia presenting within the first 2 months of life?

Answer 192

Oral Erythromycin for 2 weeks

Question 193

The following characteristics are associated with what vitamin/nutrient deficiency? 1. Dementia 2. Dermatitis 3. Diarrhea

Answer 193

Vitamin B₃ (Niacin) ## Footnote *Niacin deficiency is known as pellagra.*

Question 194

What is the inheritance pattern of cystic fibrosis?

Answer 194

Autosomal recessive

Question 195

What is the most common cause of neonatal sepsis from birth to 3 months?

Answer 195

Group B streptococcus ## Footnote *Approximately 80% of cases occur as early-onset disease resulting from vertical transmission from mother to infant during labor and delivery. Respiratory signs (apnea, grunting respirations, tachypnea, or cyanosis) are the initial findings in more than 80% of neonates, regardless of the site of involvement.*

Question 196

The following findings in a newborn are consistent with what diagnosis? 1. Chorioretinitis (inflammation of the choroid and retina of the eye) 2. Hydrocephalus 3. Intracranial calcifications

Answer 196

Congenital toxoplasmosis ## Footnote *The risk of toxoplasmosis transmission during pregnancy increases as the pregnancy progresses, but the severity of the neonatal disease decreases. Microphthalmia, microcephaly, hepatomegaly, diffuse lymphadenopathy, jaundice and diffuse petechiae may be seen. Laboratory reports show hyperbilirubinemia and thrombocytopenia.*

Question 197

The following characteristics are consistent with which diagnosis? 1. Dehydration 2. Polyuria 3. Nausea 4. Vomiting 5. Abdominal complaints 6. Hypothermia 7. Hypotension

Answer 197

Diabetic ketoacidosis ## Footnote *Kussmaul respirations and acetone breath are also characteristic. A high index of suspicion is required to make the diagnosis, especially in younger children because of the nonspecific presentation.*

Question 198

The following are clinical features of abuse of which substance? 1. Euphoria 2. Nystagmus 3. Ataxia 4. Emotional lability 5. Hallucinations affecting body image that can result in panic reactions 6. Disorientation 7. Hypersalivation 8. Abusive language

Answer 198

Phencyclidine (PCP) ## Footnote *_Retention time for Urine screening purposes_* *8 days*

Question 199

The most common form of nonnutritional rickets is what?

Answer 199

Familial primary hypophosphatemia ## Footnote *This is an X-linked dominant condition in which phosphate reabsorption is defective, and conversion of 25(OH)D to 1,25(OH)₂D in the proximal tubules of the kidneys is abnormal. This results in low serum 1,25(OH)2D, low-normal serum calcium, moderately low serum phosphate, and elevated serum alkaline phosphatase levels. Additionally hyperphosphaturia without evidence of hyperparathyroidism is present.*

Question 200

Approximately 60% of patients with cerebral palsy are affected by what?

Answer 200

Mental retardation

Question 201

After intubation, what is the next step in management of a neonate with a heart rate \< 60bpm immediately after birth?

Answer 201

Chest compressions for 30 seconds ## Footnote *If this fails to bring the heart rate above 60bpm, epinephrine is usually administered.*

Question 202

What is measured in serum trisomy screening and when is screening performed?

Answer 202

1. Alpha-fetoprotein: Decreased in DS 2. Human chorionic gonadotropin (hCG): Increased in DS 3. Inhibin A: Increased in DS 4. Estriol: Decreased in DS Screening is performed between 15 and 20 weeks

Question 203

What is the most common childhood movement disorder?

Answer 203

Cerebral Palsy ## Footnote *It has a prevalence of 3-4 cases per 1000 live births.*

Question 204

What is the inheritence pattern of severe combined immunodeficiency (SCID)?

Answer 204

Autosomal recessive or X-linked

Question 205

What treatment is used for severe lithium toxicity?

Answer 205

Hemodialysis ## Footnote *Lithium is the most dialyzable toxin.*

Question 206

Approximately 1/3 of cerebral palsy patients are affected by what?

Answer 206

Seizures ## Footnote *Other comorbidities of cerebral palsy include: Deafness, visual impairments, swallowing difficulty w/ concomitant aspiration, limb and sensory impairments, and behavioural disturbances are common comorbidities.*

Question 207

The following findings are suggestive of what diagnosis? 1. Stepping response after the age of 3 months 2. Moro reflex after the age of 6 months 3. Asymmetrical tonic neck reflex beyond 6 months

Answer 207

Cerebral palsy

Question 208

The following signs/symptoms are suggestive of what diagnosis? 1. Digital clubbing 2. Recurrent sinusitis 3. Growth retardation 4. Fat malabsorption

Answer 208

Cystic fibrosis

Question 209

What is the most common cardiac cause of cyanosis in neonates?

Answer 209

Transposition of the great arteries (TGA) ## Footnote *It occurs in approximately 5% of children with congenital heart disease. TGA typically causes an "egg-on-a-string" appearance on chest radiography.*

Question 210

what is the 5-year survival rate for childhood acute lymphoblastic leukemia (ALL)?

Answer 210

Greater than 80% ## Footnote *Treatment is with combination chemotherapy. Induction therapy with prednisone, vincristine, and asparginase, produces remission within 4 weeks in approximately 98% of children with non-high-risk ALL. Maintenance therapy with methotrexate, 6-mercaptopurine, vincristine, and prednisone is given for 2-3 years to prevent relapse.*

Question 211

The following characteristics are consistent with which diagnosis? 1. Nausea 2. Vomiting 3. Abdominal pain 4. Diarrhea 5. Third spacing and hemorrhage in the gut (can lead to hypovolemic shock) 6. Ventricular tachycardia (QT prolongation) 7. Congestive heart failure 8. Seizures 9. Cerebral edema 10. Encephalopathy 11. Coma

Answer 211

Acute arsenic ingestions ## Footnote *Early on, patients develop loss of deep tendon reflexes, paralysis, painful dysthesias, and respiratory failure similar to Guillain-Barre syndrome. Fever, anemia, alopecia, hepatitis, and renal failure also can be seen.*

Question 212

What is the treatment regimen an individual who tests positive for tuberculosis?

Answer 212

Two months of a 3 or 4 medication regimen followed by four to ten months of isoniazid and rifampin ## Footnote *Therapy for 9-12 months is recommended for CNS or disseminated TB.*

Question 213

The following are clinical features of abuse of which substance? 1. Elation and euphoria 2. Impaired short-term memory 3. Distortion of time perception 4. Poor performance of tasks requiring concentration (IE driving 5. Loss of judgement

Answer 213

Marijuana *_Retention time for Urine screening purposes_* 1. *Occaisional users: 3-10 days* 2. *Chronic users: Up to 2 months*

Question 214

Failure to thrive and multiple vitamin deficiencies can be caused by what inheritable disease?

Answer 214

Cystic fibrosis ## Footnote *The vitamin deficiencies are due malabsorption.*

Question 215

What differes between the calcified brain densities of congenital CMV and congenital toxoplasmosis?

Answer 215

_CMV_: Calcified brain densities typically are found in a periventricular pattern _Toxoplasmosis_: Calcified brain densities typically are found scattered throughout the cortex

Question 216

Parinaud's syndrome (paralysis of vertical gaze that may be associated with pupillary disturbances) and Collier's sign (eyelid retraction) are indicative of what?

Answer 216

A lesion in the rostral midbrain ## Footnote *The lesion is specifically at the level of the superior colliculus and cranial nerve III. This is most likely caused by a pinealoma or germinoma at this region.*

Question 217

The following signs/symptoms in a newborn are characteristic of what diagnosis? 1. Rapid onset (within the first 6 hours of birth) tachypnea, hypothermia, and poor perfusion 2. Low WBC count with left shift 3. Poor feeding

Answer 217

Group B streptococcal infection ## Footnote *Management would include rapid application of the ABC's of resuscitation, followed by institution of appropriate antibiotics once cultures are obtained. Despite these measures, mortality from this infection is high.*

Question 218

What defect causes type 4 renal tubular acidosis (RTA)?

Answer 218

a defect in sodium/potassium exchange in the distal tubule ## Footnote *This results in hyperkalemic, hyperchloremic acidosis. In children, obstructive uropathy, renal disease, or multicystic dysplastic kidneys are common causes.*

Question 219

Infants drinking goat's milk must have nutritional supplementation with what?

Answer 219

1. Vitamin B₁₂ 2. Folate 3. Iron ## Footnote *Unpasteurized goat's milk can contain Brucella ovis and cause brucellosis.*

Question 220

A deficiency in hexosaminidase A is characteristic of what diagnosis?

Answer 220

Tay-Sach's disease ## Footnote *This is characterized by hyperacusis (difficulty tolerating everyday sounds), mental retardation, seizures, cherry red macula. It is not characterized by hepatosplenomegaly or cervical lymphadenopathy (as seen in Niemann-Pick's disease).*

Question 221

What is the most important laboratory test in patients with suspected acute post-streptococcal glomerulonephritis (APSGN)?

Answer 221

Serum C₃ and C₄ levels ## Footnote *C3 is low in 90% of APSGN cases, whereas C4 usually is normal. If both levels are low, an alternate diagnosis is considered. Urinalysis typically reveals high specific gravity, low pH, hematuria, proteinuria, and red cell casts. Documentation of a recent streptococcal infection is helpful; serum markers include the presence of ASO enzyme antibodies and anti-DNase B antibodies. Anti-DNase B antibody assays are more reliable.*

Question 222

How does diabetes contribute to immunodeficiency?

Answer 222

Neutrophil dysfunction and ineffective neutrophil chemotaxis ## Footnote *Hyperglycemia promotes neutrophil dysfunction, and circulatory insufficiency contributes to ineffective neutrophil chemotaxis during infections.*

Question 223

When are chest radiographs obtained for patients with sickle cell disease?

Answer 223

At 2 years of age and periodically thereafter ## Footnote *Periodic chest radiographs are for screening purposes, for recent acute chest syndrome, or if the child has chronic cardiac or pulmonary disease.*