Pediatrics: Case Files Flashcards
1
Q
What differes between the calcified brain densities of congenital CMV and congenital toxoplasmosis?
A
CMV: Calcified brain densities typically are found in a periventricular pattern
Toxoplasmosis: Calcified brain densities typically are found scattered throughout the cortex
1
Q
The following are clinical features of abuse of which substance?
- Euphoria
- Nystagmus
- Ataxia
- Emotional lability
- Hallucinations affecting body image that can result in panic reactions
- Disorientation
- Hypersalivation
- Abusive language
A
Phencyclidine (PCP)
Retention time for Urine screening purposes
8 days
1
Q
What class of antiretroviral do the following drugs belong to?
- Didanosine
- Stavudine
- Zidovudine
A
Nucleoside reverse transcriptase inhibitors (NRTI)
1
Q
What potentially life-threatening complication of diabetic ketoacidosis treatment presents as headache, personality changes, vomiting, and decreased reflexes?
A
Cerebral edema
1
Q
Pneumonia in a patient with a fungal ball on chest radiograph is more likely to be related to what?
A
Aspergillus
1
Q
What test can be done to differentiate between maternal and fetal hemoglobin?
A
APT test
This test works because infant’s blood is alkali-resistant.
1
Q
What are 3 risk factors for developing acute lymphoblastic leukemia (ALL)?
A
- Age 2-4 yrs
- Male gender
- Chromosomal abnormalities such as Down syndrome and fanconi anemia
1
Q
What is the treatment of choice for idiopathic central precocious puberty?
A
Gonadotropin releasing hormone (GnRH) agonists
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.
1
Q
The following findings are consistent with what diagnosis?
- Mild coagulopathy
- Peripheral and cranial neuropathy
- Hepatosplenomegaly
- Pancytopenia
- Partial oculocutaneous albinism
- Frequent bacterial infections (usually Staph aureus)
- Progressive lymphoproliferative syndrome
A
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.
2
Q
The following characteristics are associated with what vitamin/nutrient deficiency?
- Pernicious anemia
- Neurologic deterioration
- Methylmalonic acidemia
A
Vitamin B12 (Cobalamin)
2
Q
Pneumonia in a patient with chronic lung disease is more likely to be related to what?
A
Pseudomonas aeruginosa or Aspergillus
2
Q
What are the following developmental milestones for a 4 month old?
- Gross motor
- Fine motor
- Cognitive/linguistic/communication
- Social/Emotional
A
- Roll over/Sit with head steady
- Follow to 180 degrees/Grasp rattle
- Turn to rattling sound/Laugh
- -/Regard own hand
50-90% of infants of this age pass this item/90% of infants this age pass this item
2
Q
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?
A
Aplastic anemia
2
Q
Respiratory distress syndrome, polycythemia with hyperviscosity syndrome, hypocalcemia, hypomagnesemia, and hyperbilirubinemia are all possible neonatal sequelae of what?
A
Gestational diabetes
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.
2
Q
Which heart condition is characterized by dyspnea that improves with squating?
A
Tetralogy of fallot
A “boot-shaped heart” is a characteristic radiographic finding.
3
Q
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?
A
Idiopathic thrombocytopenic purpura (ITP)
3
Q
What 2 vitamin/nutrient deficiencies cause muscle fasciculations?
A
- Vitamin D
- Calcium
4
Q
The following characteristics are consistent with which diagnosis?
- Small for gestational age
- Cutis aplasia of the scalp
- Polydactyly
- Micropthalmia
- Omphalocele
- Microcephaly with sloping forehead
A
Patau Syndrome (Trisomy 13)
Other common features include:
- Holoprosencephaly (failure of growth of the forebrain)
- Cleft lip or palate
- Postaxial polydactyly
- Flexed and overlapping fingers
- Cardiac defects (VSD, ASD, PDA, and dextrocardia)
Cutis aplasia: Missing portion of skin and hair
4
Q
What vitamin/nutrient deficiency causes hair loss?
A
Zinc
5
Q
The following signs/symptoms are characteristic of what diagnosis?
- Lethargy
- Poor feeding
- Gravely ill appearance
- Respiratory distress
- Diminished tendon reflexes
- Jaundice
A
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.
6
Q
What vitamins/nutrients are higher in goat’s milk than cow’s milk?
A
- Potassium
- Chloride
- Linoleic acid
- Arachidonic acid
6
Q
An adolescent with complaints of a dry cough, low-grade fever, and fatigue over the course of 2 weeks is consistent with what diagnosis?
A
Mycoplasm pneumoniae infection
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.
6
Q
The following signs/symptoms are characteristic of what diagnosis?
- Leg/joint pain
- Fever
- Petechia
- Hepatosplenomegaly
- Anorexia
- Irritability
- Lethargy
- Pallor
- Bleeding
A
Acute lymphoblastic leukemia (ALL)
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.
6
Q
What parasite can cause pernicious (B12 deficiency) anemia?
A
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.
7
What are the following developmental milestones for a 9 month old?
1. Gross motor
2. Fine motor
3. Cognitive/linguistic/communication
4. Social/Emotional
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*
7
At what age is the diagnosis of delayed puberty made for
1. Girls
2. Boys
1. Girls _\>_ 13 years of age
2. Boys _\>_ 14 years of age
## Footnote
*Possible causes include gonadal failure, chromosomal abnormalities, hypopituitarism, chronic disease, or malnutrition.*
8
What changes on screening labs will be seen in renal tubular acidosis?
Low bicarbonate and Increase in chloride (normal anion gap metabolic acidosis)
## Footnote
*Low pH (acidosis) will be present but basic screening labs will not assess pH.*
9
What is the most frequently diagnosed neoplasm in infants?
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.*
9
What is the likely heart lesion in an asymptomatic child with a harsh, left lower sternal border holosystolic murmur?
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.*
9
How long after initial group A strep pharyngitis does acute post-streptococcal glomerulonephritis occur?
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.*
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
Hyper-IgE (Job's ) syndrome
## Footnote
*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.*
10
What is the average daily weight gain for a term infant in the first couple months of life?
20 to 30 grams
## Footnote
*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.*
11
What is the treatment for juvenile idiopathic arthritis (JIA)
1. Nonsteroidal anti-inflammatory drugs (NSAIDs)
2. Methotrexate
3. Glucocorticoids
12
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
Opiates (heroin, morphine, codeine)
## Footnote
*_Retention time for Urine screening purposes_*
*2 days*
12
What is the most common cardiac defect seen in Down Syndrome?
Endocardial cushion defect
## Footnote
*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.*
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
Hemolytic-uremic syndrome
## Footnote
*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.*
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)
Gonococcal ophthalmia
## Footnote
*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.*
15
When is the risk of dangerous defects from maternal-fetal transmission of rubella the highest?
First trimester
## Footnote
*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.*
17
What is the treatment for organophosphate poisoning?
1. Rapid decontamination by removing all clothing and washing all skin surfaces
2. Atropine and pralidoxime both counter the effects of organophosphates
18
What vitamins/nutrients are higher in cow's milk than goat's milk?
1. Sodium
2. Vitamin D
3. Iron
4. Folate
5. Vitamin B12
18
Moderate to severe dehydration in children should be treated with what?
Intravenous bolus of isotonic fluid
## Footnote
*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.*
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)
Alcohol
*Retention time for screening purposes*
1. *Blood: 7-10 hours*
2. *Urine: 10-13 hours*
20
What class of antiretroviral do the following drugs belong to?
1. Indinavir
2. Nelfinavir
3. Ritonavir
Protease inhibitors
20
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Depression (Rare)
2. Hypotension
3. Muscle weakness
4. Abdominal pain
Vitamin B5 (Pantothenic acid)
20
When are pregnant women screened for gestational diabetes?
Between 24 and 28 weeks gestation
## Footnote
*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.*
21
What changes in genitalia occur in boys during
1. Tanner stage 2
2. Tanner stage 3
3. Tanner stage 4
1. Testes increase in size and skin of scrotum reddens
2. Penis grows in length
3. Penis grows in width
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
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*.
23
Healthy infants in the first year of life require approximately how many kcals/kg/day?
120 kcal/kg/day
## Footnote
*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.*
24
At what age is the diagnosis of precocious puberty made for
1. Girls
2. Boys
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
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?
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.*
26
Pneumonia in a patient with concomitant retinitis is more likely to be related to what?
Cytomegalovirus (CMV)
26
What are 4 complications associated with Prader-Willi syndrome?
1. Sleep apnea (70%)
2. Type II diabetes mellitus (25%)
3. Gastric distension/rupture
4. Death by choking (8%)
27
Why must Goat's milk be boiled before being fed to infants?
To prevent brucellosis
## Footnote
*Goats are particularly susceptible to brucellosis.*
28
Approximately 12% of Down Syndrome infants have which GI anomaly?
Intestinal atresia
## Footnote
*This is usually duodenal atresia.*
28
What diagnosis is characterized by an infant with respiratory distress when not crying and no distress while crying?
Choanal atresia
## Footnote
*Infants are obligate nose breathers until 4 months of age, but they can breathe through their mouths while crying.*
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.
* 2 months: Daily penicillin therapy
* 6 months: Daily folate supplementation
* 2 years: Meningococcal and 23-valent polysaccharide pneumococcal vaccines
30
Pneumonia in an intubated intensive care patient with central lines is more likely to be related to what?
Pseudomonas aeruginosa or fungal species
31
Besides administering the appropriate treatment to a patient with juvenile idiopathic arthritis (JIA), what complication should be looked for on physical exam?
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.*
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?
Juvenil rheumatiod arthritis (JRA)
33
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
Potter's disease
## Footnote
*This condition is characterized by a lack of normal infant kidney, causing reduced urine output, oligohydramnios, and constraint deformities.*
33
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
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)*
33
During what time period was asbestos commonly used as a fire retardant on school ceilings?
1940's-1970's
34
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
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.*
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?
Infectious mononucleosis (Epstein-Barr virus)
35
What disorder results from a deficiency of the hypoxanthine-guanine phophoribosyl transferase enzyme?
Lesch-Nyhan syndrome
## Footnote
*This deficiency results in marked hyperuricemia. It is characterized by self-mutilation, mental retardation, and extrapyramidal symptoms (eg, dystonia, choreoathetosis).*
36
Failure to thrive in the setting of elevated chloride levels, low bicarbonate, and low potassium levels is indicative of what?
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.*
37
Isolated intestinal Salmonella infections do not require antibiotic treatment in children after what age?
3 months
## Footnote
*After 3 months of age, treatment is not indicated. Antibiotics do not shorten the course of illness.*
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
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.*
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
Vitamin A
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
Uridyl transferase deficiency
*This condition causes galactosemia and is managed with a lactose-free formula*.
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?
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.*
43
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Glossitis
2. Pharyngeal ulcers
3. Impaired cellular immunity
Vitamin B9 (Folate)
*This is also associated with megaloblastic anemia*.
44
Angelman syndrome results from what chromosomal abnormality?
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.*
46
All female children with recurrent episodes of nocturnal vulvar itching should be examined for what?
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.*
47
What defect causes Type 1 renal tubular acidosis (RTA)?
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.*
48
Infants of diabetic mothers are at increased risk for what 4 congenital malformations?
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.*
48
What is the first step in investigating a neonate's failure to pass meconium within 24 hours of birth?
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.*
49
What is the temporary management of choanal atresia employed while preparing for surgical intervention?
Endotracheal intubation
## Footnote
*This bypasses the obstruction until surgery can be performed.*
50
In an child, exercise-induced cyanosis and a systolic murmur that radiates to the back are suggestive of what diagnosis?
Pulmonary stenosis
51
A deficiency in galactocerebrosidase characteristic of what diagnosis?
Krabbe's disease
## Footnote
*This is characterized by hyperacusis (intolerance of everyday sounds), irritability and seizures.*
51
What is the treatment for mild or moderate lead poisoning?
Calcium EDTA or Succimer
52
By what age should an infant double his/her birth length?
4 years
53
What is the treatment for a child with symptomatic lead toxicity?
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*.
54
The following findings in a young boy are consistent with what diagnosis?
1. Eczema
2. Thrombocytopenia
3. Recurrent infections with encapsulated organisms
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.*
55
What are the following developmental milestones for a 6 month old?
1. Gross motor
2. Fine motor
3. Cognitive/linguistic/communication
4. Social/Emotional
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*
55
What are the first 3 tests that should be ordered when juvenile idiopathic arthritis (JIA) is suspected?
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.*
56
In addition to cardiac and GI defects, what 5 other conditions are associated with Down Syndrome?
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.
58
Why does physiologic jaundice (unconjugated hyperbilirubinemia) occur in approximately 60% of full-term infants and 80% of preterm infants?
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.*
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
Cocaine
## Footnote
*_Retention time for Urine screening purposes_*
*2-4 days*
61
Beyond the newborn period and through approximately 5 years of age, lower respiratory tract infections of what etiology are common?
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.*
62
What is the cause of 50% of all lower GI bleeds in children under the age of 2 years?
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.*
63
What 4 active or historical heart conditions require antibiotic prophylaxis?
1. History of endocarditis
2. Prosthetic valve
3. History of heart transplant
4. Severe or partially repaired cyanotic congenital heart defect
65
Pneumonia in a patient with skin findings is more likely to be related to what?
Varicella-Zoster
66
What defect causes type 2 renal tubular acidosis (RTA)?
A defect in bicarbonate reabsorption in the proximal tubule
## Footnote
*Fanconi syndrome is a common cause in children.*
67
What is the most common cause of hematochezia in infants, children, and adolescents?
Anal fissure
68
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
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*
68
What is the treatment for acetaminophen toxicity?
N-Acetylcysteine
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?
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.*
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
1. Sepsis
2. Aplastic crisis
3. Splenic sequestration
4. Acute chest
5. Stroke
72
Infants receiving goat's milk as a primary source of nutrition should be supplemented with what?
1. Folate and vitamin B12 to prevent megaloblastic anemia
2. Iron to prevent microcytic anemia
74
Why do lead levels tend to rise again following chelation therapy?
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.*
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)
Vitamin B1 (Thiamine)
77
What are 4 acyanotic heart lesions?
1. Ventricular septal defect
2. Atrial septal defect
3. Atrioventricular septal defect
4. Patent ductus arteriosus
78
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Hemorrhagic manifestations
Vitamin K
80
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
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".*
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
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.*
81
There is increased risk for early-onset neonatal group streptococcus (GBS) disease when delivery occurs how many hours after rupture of membranes?
\>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*
82
Which vaccines should an infant recieve at the age of 4 months?
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)*
84
How is the diagnosis of chronic granulomatous disease made?
Nitroblue tetrazolium (NBT) slide test, flow cytometry, or cytochrome C reduction
85
A deficiency in glucocerebrosidase is characteristic of what diagnosis?
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).*
86
Deficiency of sphingomyelinase is characteristic of what diagnosis?
Niemann-Pick's disease
## Footnote
*This is characterized by a cherry red macula, protruding abdomen, hepatosplenomegaly, lymphadenopathy, and regression of developmental milestones.*
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
Chronic granulomatous disease
## Footnote
*Patients are susceptible to catalase-positive bacteria.*
89
What comprises approximately 40% of all pediatric malignancies?
Leukemia
## Footnote
*75% are acute lymphoblastic leukemia (ALL), 20% are myeloblastic leukemia (AML). The clinical manifestations of AML and ALL are similar.*
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
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*
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
Methamphetamines and Ecstasy
## Footnote
*_Retention time for Urine screening purposes_*
*2 days*
93
What 3 findings may be present in an infant exposed to methyl mercury in utero?
1. Low birth weight
2. Microcephaly
3. Seizures
## Footnote
*They also dysplay significant developmental delay and can have vision and hearing impairments.*
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?
Neuroblastoma
96
At what age do children often become picky eaters, often causing their growth rates to plateau?
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.*
98
Breast milk is considered the ideal human infant food because it contains complete nutrition with the exception of what?
Vitamin D and fluoride
## Footnote
*In addition it has antimicrobial properties and offers psychological advantages to mothers and infants.*
99
What is the treatment of iron poisoning?
Intavenous deferoxamine
## Footnote
*Deferoxamine binds ferric iron and allows it to be excreted in the urine.*
100
What are 4 positive prognostic factors for acute lymphoblastic leukemia?
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)
101
Pneumonia in a patient with exposure to sheep or cattle is more likely to be related to what?
Coxiella brunetti
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?
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.*
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)
Vitamin D
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
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.
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
Vitamin B6 (Pyridoxine)
108
What is the treatment for Hemolytic-uremic syndrome?
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.*
110
Recurrent painless gross hematuria, frequently associated with an upper respiratory tract infection, is typical of what diagnosis?
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.*
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
Barbiturates
*_Retention time for Urine screening purposes_*
1. *1 day for short-acting agents*
2. *2-3 weeks for long-acting agents*
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
Vitamin C (Ascorbic acid)
113
Airway inflammation in asthma is a result of what?
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.*
114
Which sequela of Group A strep infection is not prevented by antibiotic administration?
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%.*
115
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Hemolytic anemia in premature infants
Vitamin E
116
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Dermatitis
2. Seborrhea
3. Anorexia
4. Muscle pain
5. Pallor
6. Alopecia
Vitamin B7 (Biotin)
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
Fragile X syndrome
## Footnote
*This is the most common form of inherited mental retardation. It usually occurs in boys.*
119
What class of antiretroviral do the following drugs belong to?
1. Efavirenz
2. Nevirapine
3. Delavirdine
Non-Nucleoside reverse transcriptase inhibitors (NNRTI)
121
What is the most common rheumatologic disorder in children?
Juvenile idiopathic arthritis (JIA)
122
Breast-fed infants of mothers who adhere to a strict vegan diet are at risk for what vitamin deficiency?
Vitamin B12
## Footnote
*Vitamin B12 deficiency can also occur when the terminal ileum is absent or when infectious or inflammatory conditions compromise intestinal function.*
123
What are the common causative organisms of otitis externa?
1. Pseudomonas species
2. Staph aureus
3. Candida or aspergillus (occaisionally)
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)
Lead toxicity
## Footnote
*Permanent, long-term consequences include learning and cognitive defecits and aggressive behavior.*
127
Absence of a red reflex may indicate which underlying abnormalities?
1. Cataracts
2. Glaucoma
3. Retinoblastoma
4. Chorioretinitis
128
At what tanner stage in girls do the nipple and areola form a separate mound, protruding from the breast?
Breast tanner stage 4
## Footnote
*The areola rejoins the breast contour and development is completed around age 12.5-18.5 years.*
130
What is the treatment for otitis externa?
Topical mixture of polymyxin and corticosteroids
130
The sudden onset of respiratory symptoms in a previously healthy infant, particularly in association with fever, is most consistent with what diagnosis?
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.*
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?
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.*
132
By what age should an infant double and triple his/her birth weight?
1. Double: 4-5 months
2. Triple: 12 months
## Footnote
*Infants should regain their birth weight by 2 weeks.*
134
When does PCP prophylaxis in the form of TMP-SMX begin for HIV-positive infants?
Approximately 6 weeks of age
135
Prader-Willi syndrome results from what chromosomal abnormality?
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.*
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
Methyl mercury toxicity
## Footnote
*This ultimately will cause death.*
138
What is the most common heart lesion in children?
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.*
139
What must breast milk be supplemented with when an infant is 4-6 months of age?
Iron
## Footnote
*Iron levels are low in breast milk, but highly bioavailable and do not require supplementation until 4-6 months of age.*
140
1. It is important to never give regular cow's milk to an individual under what age?
2. Why?
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.
141
What is the first step in management of a neonate with a heart rate \< 60bpm immediately after birth?
Endotracheal intubation with positive pressure ventilation of 100% O2
142
1. Where is intrisic factor produced?
2. Where is it absorbed?
1. Gastirc antrum
2. Terminal ileum
143
What differentiates a benign pulmonary flow murmur from a pathologic pulmonary murmur?
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.*
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?
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.*
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.
Cerebral palsy
## Footnote
*Most children with cerebral palsy have no identifiable risk factors for the disorder.*
146
What is the treatment for an infant with chlamydial conjunctivitis or pneumonia presenting after the first 2 months of life?
Oral Sulfisoxazole for 2 weeks
147
What are two significant risk factors for sudden infant death syndrome (SIDS)?
1. Prone sleep position (Babies should sleep on their backs)
2. Cigarette smoke exposure
149
Which 6 vaccines are given at 2 months of age?
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)
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)?
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.*
151
How many weeks of cromolyn or nedocromil therapy does it take before the drugs become effective?
2-4 weeks
## Footnote
*These drugs function by reducing the immune response to allergen exposures. They are only successful in 75% of patients.*
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
Vitamin B2 (Riboflavin)
154
DNA testing of someone with Cystic fibrosis will show what?
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.*
155
Pneumonia in a patient with recent exposure to stagnant water is more likely to be related to what?
Legionella pneumophila
156
Cough and increased respiratory effort in an afebrile infant with eye discharge are findings consistent with what?
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).*
157
Which age group is the cause of hematochezia most often a life-threatening condition?
Newborns
## Footnote
*In infants and children the cause of hematochezia is more often benign.*
159
What is the appropriate approach to mammary gland enlargement and non-purulent vaginal discharge in a newborn?
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.*
160
Pneumonia in a patient with recent travel to the southwestern United States is more likely to be related to what?
Coccidioides immitis
162
Lower respiratory tract infections in the first few days of life are more commonly caused by what?
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.*
163
The following characteristics are consistent with which diagnosis?
1. Developmental delay
2. Immature/insecure behavior
3. Gynecomastia
4. Hypogonadism
5. Long limbs
Klinefelter Syndrome (XXY)
163
What is the management of transposition of the great arteries (TGA)?
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.*
165
What usually presents in boys prior to 3 months of age and ischaracterized by more frequent stools and blood streaked stools?
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.*
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?
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.*
167
Why is there often increased wheezing on auscultation of an asthmatic following treatment with albuterol?
Lung areas that were previously closed are no opening, allowing additional airflow
168
How is the diagnosis of leukemia made?
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.*
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?
Chronic granulomatous disease
## Footnote
*Catalase-positive organisms include Staph Aureus, Klebsiella, Aspergillus, Serratia marcescens, and Burkholderia cepacia.*
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?
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.*
172
What presents with a delay in passing meconium after birth and can progress to bloody stools and even diarrhea?
Hirschsprung disease
## Footnote
*It can progress to toxic megacolon and enterocolitis with is when it will present with bloody stools and diarrhea.*
174
A breast-feeding vegan should supplement her infant's or toddler's diet with what?
Vitamin B12
*This is to prevent methylmalonic acidemia and trace minerals*.
175
What is the treatment for chronic granulomatous disease?
Daily Trimethoprim-Sulfamethoxazole and gamma-interferon 3 times per week.
## Footnote
*Bone marrow transplantation is experimental but curative.*
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?
Histoplasma capsulatum
177
Meconium ileus in the newborn period is nearly pathognomonic for what?
Cystic fibrosis
178
The pediatric patient older than approximately 5 years of age with lower respiratory tract infection is typically infected with what?
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).*
180
Extremely elevated WBC counts (~50,000 cells/mm3) in an immunocompromised individual is consistent with which diagnosis?
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.*
182
When does sudden infant death syndrome (SIDS) typically occur?
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.*
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
Jejunal atresia
## Footnote
*Risk factors include prenatal exposure to cocaine and other vasoconstrictive drugs.*
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
Diaphragmatic hernia
## Footnote
*The first step in management is endotracheal intubation.*
186
The following findings in a newborn are consistent with what diagnosis?
1. Deafness
2. Cataracts
3. Cardiac defects
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.*
188
In addition to a bone marrow examination, what is included in the workup of leukemia?
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
189
Which disorder is characterized by recurring sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing?
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.*
190
What agent is used to treat tricyclic antidepressant or aspirin overdoses?
Sodium bicarbonate
191
Jaundice presenting within the first 24 hours of life requires immediate attention and might be caused by what 6 conditions?
1. Erythroblastosis fetalis
2. Hemorrhage
3. Sepsis
4. Cytomegalic inclusion disease
5. Rubella
6. Congenital toxoplasmosis
192
What is the treatment for an infant with chlamydial conjunctivitis or pneumonia presenting within the first 2 months of life?
Oral Erythromycin for 2 weeks
193
The following characteristics are associated with what vitamin/nutrient deficiency?
1. Dementia
2. Dermatitis
3. Diarrhea
Vitamin B3 (Niacin)
## Footnote
*Niacin deficiency is known as pellagra.*
194
What is the inheritance pattern of cystic fibrosis?
Autosomal recessive
195
What is the most common cause of neonatal sepsis from birth to 3 months?
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.*
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
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.*
197
The following characteristics are consistent with which diagnosis?
1. Dehydration
2. Polyuria
3. Nausea
4. Vomiting
5. Abdominal complaints
6. Hypothermia
7. Hypotension
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.*
199
The most common form of nonnutritional rickets is what?
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.*
200
Approximately 60% of patients with cerebral palsy are affected by what?
Mental retardation
201
After intubation, what is the next step in management of a neonate with a heart rate \< 60bpm immediately after birth?
Chest compressions for 30 seconds
## Footnote
*If this fails to bring the heart rate above 60bpm, epinephrine is usually administered.*
202
What is measured in serum trisomy screening and when is screening performed?
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
203
What is the most common childhood movement disorder?
Cerebral Palsy
## Footnote
*It has a prevalence of 3-4 cases per 1000 live births.*
204
What is the inheritence pattern of severe combined immunodeficiency (SCID)?
Autosomal recessive or X-linked
205
What treatment is used for severe lithium toxicity?
Hemodialysis
## Footnote
*Lithium is the most dialyzable toxin.*
206
Approximately 1/3 of cerebral palsy patients are affected by what?
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.*
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
Cerebral palsy
208
The following signs/symptoms are suggestive of what diagnosis?
1. Digital clubbing
2. Recurrent sinusitis
3. Growth retardation
4. Fat malabsorption
Cystic fibrosis
209
What is the most common cardiac cause of cyanosis in neonates?
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.*
210
what is the 5-year survival rate for childhood acute lymphoblastic leukemia (ALL)?
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.*
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
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.*
212
What is the treatment regimen an individual who tests positive for tuberculosis?
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.*
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
Marijuana
*_Retention time for Urine screening purposes_*
1. *Occaisional users: 3-10 days*
2. *Chronic users: Up to 2 months*
214
Failure to thrive and multiple vitamin deficiencies can be caused by what inheritable disease?
Cystic fibrosis
## Footnote
*The vitamin deficiencies are due malabsorption.*
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?
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.*
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
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.*
218
What defect causes type 4 renal tubular acidosis (RTA)?
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.*
219
Infants drinking goat's milk must have nutritional supplementation with what?
1. Vitamin B12
2. Folate
3. Iron
## Footnote
*Unpasteurized goat's milk can contain Brucella ovis and cause brucellosis.*
220
A deficiency in hexosaminidase A is characteristic of what diagnosis?
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).*
221
What is the most important laboratory test in patients with suspected acute post-streptococcal glomerulonephritis (APSGN)?
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.*
222
How does diabetes contribute to immunodeficiency?
Neutrophil dysfunction and ineffective neutrophil chemotaxis
## Footnote
*Hyperglycemia promotes neutrophil dysfunction, and circulatory insufficiency contributes to ineffective neutrophil chemotaxis during infections.*
223
When are chest radiographs obtained for patients with sickle cell disease?
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.*
