Peds USMLErx review Flashcards
1
Q
What are the physical manifestation of pseudohypoparathyroidism? (neuro, physical, labs)
A
- MR
- Short
- Spastic movements
- Short fingers
- Hypocalcemia
- Hyperphosphatemia
2
Q
What is albright hereditary osteodystrophy?
A
a form of osteodystrophy, due to pseudohypoparathyroidism, characterized by hypogonadism, brachydactyly, choroid plexus calcifications, full cheeks, and hypocalcemic tetany
3
Q
What are the classic s/sx of a FB ingestion?
A
- Choking/stridor
- Drooling
- Refusal to eat
4
Q
What is the appropriate workup for a FB ingestion?
A
Neck, chest, and abdominal x-rays
5
Q
What is the test used to diagnose HIV in an infant born to an HIV+ mother? Why?
A
HIV DNA polymerase chain reaction, because the usual ELISA will show positive for maternal antibodies,
6
Q
What is the treatment for a Wilms tumor?
A
- Nephrectomy and chemo
- XRT added if there are mets
7
Q
When do Wilms tumors usually present?
A
2-4 years of age
8
Q
What are the symptoms of a Wilms tumor, if any?
A
- bone pain
- n/v/d
- polyuria/dysuria
- microscopic hematuria
9
Q
What is the usual presentation of a SCFE?
A
Obese adolescent with painful, acute-o-chronic limp. Relieved by rest. Pain is often referred to the knee or groin, so lack of overt hip pain should NOT be reassuring.
10
Q
Which is the more sensitive view for x-ray to diagnose a SCFE?
A
Lateral more sensitive than AP
11
Q
What is the treatment for a SCFE?
A
Avoid weight bearing, and surgery
12
Q
When should a child be able to tell a story from beginning through to the end?
A
5 years
13
Q
What is the inheritance pattern of Duchenne’s muscular dystrophy?
A
XLR
14
Q
What are the teratogenic effects of carbamazepine?(4)
A
- NTDs
- Fingernail hypoplasia
- IUGR
- Microcephaly
15
Q
What is the classic presentation of coxsackievirus pharyngitis?
A
Grayish vesicles and ulcers on the posterior pharynx
16
Q
Neuroblastomas arise from what cell type?
A
primitive sympathetic ganglion cells
17
Q
What lab abnormality is classic for neuroblastomas (not specific for it, however)?
A
Elevated urine vanillylmandelic acid
18
Q
What compressive symptoms can neuroblastomas cause in children?
A
Horner’s syndrome
19
Q
What are the s/sx of a neuroblastoma?
A
- HTN
- Respiratory distress
- Horner’s
- periorbital bruising
- bone pain
20
Q
What lab abnormalities can neuroblastomas cause?
A
-pancytopenia
21
Q
What is the treatment for a neuroblastoma?
A
Surgical
22
Q
What gene is amplified with neuroblastomas?
A
n-myc
23
Q
A bilirubin level over what value is always pathologic in a neonate?
A
17 mg/dL
24
Q
What are the five criteria for physiologic jaundice?
A
- Bili is less than 14 mg/dL
- Bili increases by less than 5 mg/dL/day
- During the first 3 days, the bili is less than 5
- at 7 days, in a full term infant, jaundice has resolved (14 days if premie)
- The conjugated bili is always normal
25
What is the classic presentation of Scarlet fever?
Raspberry tongue
| Sandpaper-like rash
26
what is the treatment for scarlet fever?
PCN
27
What are the s/sx of necrotizing enterocolitis?
- Abdominal distention
- vomiting
- Melena
- lethargy
- Diarrhea
28
What is the preventative measure for NEC?
Breastfeedings
29
What amino acid becomes essential in pts with PKU? WHy?
Tyrosine, since their F hydroxylase enzyme (of THF cofactor) is no longer functioning to produce this AA
30
In whom are tetracycline contraindicated? Why?
Pregnant women or kids under 8 years
Risk of tooth discoloration, neurologic sequelae, and bone defects
31
What is the second line treatment for Lyme disease in pts who cannot take doxycycline?
Augmentin
32
What are the early clinical s/sx of a tracheoesophageal fistula?
- Foaming and drooling at the mouth
| - Tympanic stomach
33
What is the treatment for impetigo?
Dicloxacillin
34
Bullous impetigo is classically caused by what infectious agent?
Staph Aureus
35
When is a LP indicated in the workup of a febrile seizure?
If suspected CNS infection, or if postictal
36
How can one distinguish between 11b and 21 hydroxylase deficiency?
11beta deficiency will still have some aldosterone effects present, so HTN and hypokalemia may exist
37
A wide, fixed split S2 is significant for what disease process?
ASD
38
True or false: if a patient taking methylphenidate develops twitching or tics, the medication should be stopped immediately
True
39
Which two infections classically cause erythema multiforme?
Mycoplasma
| HSV
40
If ingestion of an OD of acetaminophen is at an unknown time, when should N-acetylcysteine be given? (3 criteria)
- If more than 150 mg/kg OD
- Serum concentration is above 10 micrograms/mL
- Lab evidence of hepatic damage
41
A h/o intussusception is a contraindication to what vaccine?
Rotavirus
42
What is the defect in homocystinuria, and what are the manifestations of this?
- Defect in cystathionine or methionine synthesis, leading to accumulation of homocysteine.
- Causes MR, FTT, osteoporosis, megaloblastic anemia, lens dislocation, and hypercoagulable state
43
If a child has significantly underdeveloped or absent lymphoid tissue, what disease process should be suspected?
SCID
44
What is the newborn screen for SCID?
T cell receptor excision circles
45
What molecule is classically elevated in sepsis?
Plasminogen activator inhibitor-1
46
What needs to be monitored with Rifampin use?
LFTs
47
What is the typical presentation of mastoiditis?
Erythematous, edematous area behind an auricle after a recent AOM. Drainage too.
48
Why do patients with 5alpha-reductase deficiency have ambiguous genitalia at birth, but at puberty develop a penis and testicles (more significantly)?
At puberty, there is upregulation of a second 5alpha-reductase isoform that finally provides the signal for virilization
49
Why is IGF-1 favored over GH for diagnosing GH deficiency?
GH is pulsatile and erratic, whereas IGF is more predictable
50
What is the first step in working up suspected precocious puberty?
Bone age scan
51
If a bone age scan is normal in the workup of suspected precocious puberty, what should be done? What if abnormal?
```
Normal = just follow as it is unlikely true puberty
Abnormal = FSH/LH levels as this is likely pathologic
```
52
What are the presenting s/sx of Gaucher's disease? (5)
- SGA
- Anemia
- Thrombocytopenia
- Ostalgia
- HSM
53
What is the classic bx finding of Gaucher's disease? What is the enzymatic deficiency?
- Crinkled paper macrophages
| - Glucocerebrosidase
54
What disease is characterized by a deficiency of alpha-galactosidase?
Fabry's disease
55
What disease is characterized by a deficiency of arylsulfatase A?
Metachromatic leukodystriophy
56
What are the characteristic histological findings of Tuberous sclerosis?
Epithelioid cells, adipocytes, and blood vessels
57
What are the histological characteristics of Wilms tumors?
Abortive tubules and glomeruli
58
What are the histological characteristics of renal cell carcinoma?
Atypical polygonal cells with clear cytoplasm
59
What are the histologic characteristics of cardiac rhabdomyomas?
Cardiomyocytes with surrounding fibrosis
60
What are the clinical symptoms of GERD in a child under 1 year?
- Postprandial regurgitation
- Esophagitis (arching back, irritability)
- FTT
61
What is the treatment for GERD under 1 year?
- Small, frequent feedings
- upright position when eating
- Thickened feeds
62
What is the genetic defect in Chediak-Higashi syndrome?
Mutation in the LYST gene that encodes a protein needed for sorting of other proteins into endosomal compartments
63
What syndrome are pts with Chediak-Higashi syndrome prone to develop? What is the pathophys?
- Hemophagocytic syndrome
- Uncontrolled proliferation of activated histiocytes that secrete high amounts of cytokines.
- Pancytopenia, high fever, lymphohistiocytic infiltration of liver, spleen and lymph
64
What are the diagnostic criteria for JRA (JIA)?
Persistent inflammation in 2+ joints for 6+ weeks
65
What extraarticular symptom are pts with JRA (JIA) at risk of developing?
Blindness from chronic, asymptomatic uveitis
66
What should children with JRA (JIA) be screened for?
Uveitis since it may lead to blindness
67
What is the treatment for seborrheic dermatitis of the scalp ("cradle cap")?
Topical emollients
68
What is the treatment for seborrheic dermatitis in locations other than the scalp?
Topical ketoconazole cream
69
What is the treatment for croup if the patient is in respiratory distress (that is not at risk for impending respiratory collapse)?
Nebulized racemic epi
70
What is the long term treatment for arrhythmias 2/2 ebstein abnormality?
Ablation
71
What is the test of choice to diagnose intestinal obstruction in the newborn? Why?
Upper GI series, since plain films are not sensitive or specific enough for possible malrotation
72
What are the s/sx of West syndrome (infantile spasms)?
- Sudden, severe myoclonic convulsions of the entire body (lightning attack)
- Nodding attack, (convulsions of the throat and neck flexors, causing the chin to jerk toward chest
- Salaam/jackknife - Flexor spasms with rapid bending of the head and torso forward, with simultaneous raising and bending of the arms while partially drawing the hands together in front of the chest and/or flailing
73
What are the classic EEG findings of infantile spasms (West syndrome)?
Hypsarrhythmia
74
Down syndrome is associated with what hematologic malignancy?
ALL
75
Chickenpox over what age increases the risk for complications, and thus necessitates treatment? What is the treatment?
13
| Acyclovir
76
What is Landau-Kleffner syndrome?
Rare neurologic syndrome, characterized by the sudden or gradual development of aphasia and an abnormal EEG. LKS affects Broca's area and Wernicke's area. The disorder usually occurs in children between the ages of 3 and 7 years.
77
Is listeria gram negative or positive?
Positive
78
What is the most common cause of painless hematochezia in children?
Meckel's diverticulum
79
What is the most common cause of death in pts with DMD?
Dilated cardiomyopathy
80
What are the relative complement levels in IgA nephropathy? Why?
Normal
| C3 does not bind IgA
81
What are the restricted movement in pts with Legg-Calve-Perthes disease?
Restricted internal rotation and abduction of the leg
82
What are the characteristics of the rash in JRA (JIA), and how can you differentiate them from other etiologies?
- Macular salmon colored rash
- ACtivated by heat
- Triggered by fevers
- Found in warm areas of the body
83
What are the classic AXR findings of intussusception?
- Donut sign
| - Paucity of air in the RUQ
84
What is the treatment for intussusception?
Reduction by Ba or gas enema under fluoroscopy
85
Which vaccines are made with eggs?
- Yellow fever
- MMR
- Some Flu
- Rabies
86
What are the fontanelle findings with bacterial meningitis?
Full, but not bulging.
87
What gene is responsible for Rett syndrome, and which chromosome is it on?
MECP2
| X linked
88
Loss of milestones and hand wringing in a young female child = ?
Rett syndrome
89
What complication can acyclovir prevent in children?
Varicella pneumonia
90
What is the treatment for x-linked (Bruton's) agammaglobulinemia?
IVIG
91
When is bone marrow transplant indicated for x-linker (Bruton's) agammaglobulinemia?
Not indicated yet.
92
What is a major complication of a supracondylar elbow fracture in peds? Why?
Compartment syndrome of the forearm
| Because the brachial artery runs along the humerus,
93
What is Volkmann's contracture?
Chronic, painful contracture of the flexors of the forearm, from necrosis of the muscles. Caused by compartment syndrome, or disruption of the brachial artery
94
How long does physiologic jaundice take to resolve? How high are bili levels?
Resolves by 5th day
| Elevated to around 7-9 mg/dL of unconjugated bili
95
Persistent, indirect hyperbilirubinemia beyond what timeframe suggests a different etiology beyond physiologic jaundice of the newborn?
2 weeks
96
What marker is expressed in all choriocarcinomas of the testicle?
beta-hCG
97
What testicular cancer(s) has/have elevations in AFP?
- teratomas
- Teratocarcinomas
- embryonal cell tumors
98
What renal disease are patients with tuberous sclerosis at increased risk of developing?
Renal angiomyolipomas
99
Patients with von Hippel-Lindau disease have what neurologic tumors?
Hemangioblastomas
100
What is sturge weber syndrome?
a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). Sturge Weber Syndrome can be classified into three different types
101
What tumors are seen with sturge weber syndrome?
Leptomeningeal angiomas
102
What is the role of indomethacin in PDAs? Prostaglandins?
Indomethacin closes it.
| Prostaglandin E2 maintains it.
103
What are the s/sx of a large, symptomatic PDA, besides the characteristic murmur?
CHF with no response to supplemental oxygen
FTT
Recurrent LRIs
104
What is the classic presentation of bacterial tracheitis?
Brassy cough, high fever, and possible respiratory distress in a patient with a recent URI.
105
What is the most common infectious agent responsible for bacterial tracheitis?
Staph Aureus
106
What is the treatment for acute rheumatic fever?
Prednisone burst and long term oral abx for prophylaxis, regardless if throat culture is positive or not.
107
What major joint complication can arise from long term corticosteroid use?
Avascular necrosis
108
Why are abx contraindicated in the treatment of infant botulism?
Increase the release of the toxin in the intestines
109
What retinal findings are associated with tuberous sclerosis?
Retinal hamartomas
110
What are the components of the HAMARTOMASS mnemonic for the s/sx of tuberous sclerosis?
- Hamartomas
- Angiofibromas
- Mitral regurg
- Ash-leaf spots
- Rhabdomyomas
- Tuberous sclerosis
- dOminant inheritance
- MR
- Angiomyolipoma
- Seizures
- Shagreen patches
111
What neurocutaneous disorder is characterized by choroidal angiomas?
Sturge-weber syndrome
112
How can neuroblastomas cause pancytopenia?
If infiltrate bone marrow
113
What are the raccoon eyes seen in neuroblastomas?
Infiltration of the tumor around the orbits, causing a black-eye like appearance
114
What are the newborn PE findings of Beckwith-Wiedemann syndrome?
- Macrosomia
- Macroglossia
- Linear ear creases
- Abdominal wall defects
- Exophthalmos
- Transient neonatal hypoglycemia
(think combination hypothyroidism and DM)
115
What is the most sensitive test for diagnosing developmental dysplasia of the hip in a neonate or 6 mo infant?
US
116
When does x-ray become the modality of choice for diagnosing developmental dysplasia of the hip?
6+ months
117
What is the classic h/o infantile spasms?
- Regression of motor development
- Hypsarrhythmia on EEG
- Flailing of extremities
118
What is the most common pathogen implicated in AOM?
Strep pneumoniae
119
What are the dermatologic findings of congenital syphilis?
Macular rash on palms and soles, (followed by desquamation) with jaundice
120
Which CN in particular is affected with congenital syphilis?
CN VIII
121
What is the reversal agent for tPA?
Aminocaproic acid
122
What is the use of Fomepizole?
Ethylene glycol or methanol poisoning (blocks alcohol dehydrogenase)
123
What is the antidote for anticholinergic toxicity?
Physostigmine
124
What is the reversal agent for heparin?
Protamine sulfate
125
What are the s/sx of NEC?
- Absent BS
- Distended abdomen
- Guaiac-positive stools
126
What are the classic AXR findings of NEC?
Pneumatosis intestinalis (bubbly appearance of gas within the bowel wall)
127
What is the treatment for NEC?
- NPO
- Gastric decompression
- TPN
- ABX coverage (vanco, gentamicin, and clinda)
128
What is the double track sign on AXR, and what does it indicate?
Two thin tracks of contrast material compressed between thickened pyloric mucosa found in pyloric stenosis
129
What sort of history is suspicious for chronic granulomatous disease? (4)
Recurrent lymphadenitis
Multiple site osteomyelitis
Cutaneous abscesses
Recurrent infx with staph
130
Which immunodeficiency is characterized by albinism? Why?
Chediak-Higashi syndrome (since lysosomes chemotaxis is impaired)
131
What are the s/sx of Job syndrome?
- Recurrent skin and pulmonary infections, generally bacterial.
- Cold abscesses
132
What are the long term complications from untreated developmental dysplasia of the hip?
OA
Avascular necrosis
Joint contracture
133
What causes the trendelenburg gait with developmental dysplasia?
Shortened leg
134
What are the s/sx of staph scalded skin syndrome?
- High fever
- erythematous rash
- Extreme TTP
- Circumoral erythema
- Positive Nikolsky sign
135
What is miliaria?
Small and itchy papular rash common in hot and humid conditions. Occurs when the sweat gland gets plugged 2/2 dead skin cells or by staph
136
What are the manifestations of PKU?
- Eczema
- Fair hair and skin
- Musty odor
137
What is the inheritance pattern of PKU?
AR
138
What is erythema toxicum neonatorum? Cause? Microscopic findings? When does it present? HOw does it present?
Benign, self limited idiopathic rash that appears in the first 48 hours of life. Presents like acne. Microscopic exam shows eosinophils
139
What are the s/sx of Friedreich's ataxia?
- Ataxic gait
- Reduced DTRs
- Reduced proprioception
140
What is the role of Fe in Friedreich's ataxia?
Frataxin is responsible for mitochondrial Fe metabolism. The build up of Fe in the mitochondria of the dorsal columns causes degeneration
141
What organs are affected with Friedreich's ataxia? (3)
- Cardiomyopathy
- Pancreatic damage
- DC/ML
142
Ataxic gait, HCM, and impaired fasting BG in a teenager = ?
Friedreich's ataxia
143
What is the inheritance pattern of Friedreich's ataxia? What is the nucleotide repeat?
AR
| GAA
144
What is the life expectancy of Friedreich's ataxia?
30-40 years
145
With what congenital anomaly is a circumcision contraindicated? Why?
Hypospadias
| Skin needed to fix it
146
True or false: there is an increased risk of UTIs in patients with hypospadias
False
147
If testes have not descended by what age is orchiopexy indicated?
Between 6 months and 2 years
148
When will most undescended testes descend by?
6 months
149
What is the rash that is opposite of chickenpox in terms of evolution of the rash?
Smallpox has lesions all at the same stage
150
What is caffeine used for in neonates?
Treating central apnea
151
What is the first step in treating a meconium aspiration if the oropharynx is clear?
CPAP
152
True or false: meconium aspiration is a clinical finding
True
153
What is the effect of meconium on surfactant?
Deactivates it
154
What are the indications for intubation with meconium aspiration?
- s/sx resp distress
- HR less than 100
- Not responsive to CPAP
155
What is the role of endotracheal suction in meconium aspiration?
No longer indicated
156
What is the classic presentation of rubella infx?
- Maculopapular rash that beings on the face, and spreads downwards, sparing the extremities
- Arthralgias and f/c
157
What is the LAD that is classically seen with rubella infection?
Posterior cervical and occipital
158
What are the characteristics of the rash with Erythema infectiosum?
- Erythematous malar rash with circumoral pallor
| - Reticular rash spreading downward
159
What are the imaging findings, besides lytic lesions, of osteomyelitis?
Displacement of deep muscle 2/2 deep tissue edema
160
What is the treatment for osteomyelitis in sickle cell pts?
Nafcillin/oxacillin or cefazolin + cipro
161
If a child with a HA gets an LP and subsequently lapses into a coma, what disease process should be suspected?
Brain tumor
162
What is an Arnold-Chiari malformation? S/sx?
- Congenital herniation of the cerebellar tonsils into the cervical canal.
- Usually asymptomatic until adulthood, but HA with coughing or LOC with looking upwards
163
What is a Dandy-Walker malformation? S/sx?
Cystic expansion of the 4th ventricle along with hydrocephalus
-This is apparent at birth with poor tone, poor coordination, seizures, and developmental delays
164
What are the s/sx of coarctation of the aorta? Murmur characteristics
CP + SOB with exertion, and a systolic ejection murmur with radiation to the scapulae
165
What is the single most important way to prevent vertical HIV transmission?
HAART therapy continuation during pregnancy
166
Which chromosome is responsible for neurofibromatosis type 1? Type 2?
```
1 = 17
2 = 22
```
167
What is the classic EEG pattern for absence seizures?
Three-per-second spike and wave discharges
168
What is the drug of choice for complex partial seizures?
Carbamazepine
169
What is the progression of symptoms of Fe intoxication 2/2 tablet ingestion? (4)
1. GI Phase (abdo pain, melena, n/v/d)
2. Latent phase
3. Shock and acidosis
4. Liver insult and SBO
170
What is the treatment for salicylate poisoning?
Sodium bicarb
171
Down syndrome pts are at increased risk for which hematologic malignancy?
ALL
172
What are serum C3 levels with poststreptococcal glomerulonephritis?
Low
173
What is the appearance of poststreptococcal glomerulonephritis on bx?
Spike and dome appearance
174
Is PDA a cyanotic or acyanotic disease?
Acyanotic
175
What are the cells that give rise to neuroblastomas?
Neural crest cells (neuroectoderm)
176
What are the classic CXR findings for bronchiolitis?
Hyperinflation and peribronchial thickening, without areas of consolidation
177
What is the inheritance pattern of CF?
AR
178
What are the immunoglobin findings associated with ataxia-telangiectasia?
Low LgE, absent IgA
179
Where does the rash of Roseola usually begin?
Trunk, spreads to extremities
180
Pts with Wiskott-Aldrich syndrome are predisposed to developing what cancer?
EBV associated lymphoma and other viral related malignancies
181
What are the classic s/sx of Tay-Sach's?
Normal development until 4-6 months of age
- Cherry red macula
- NO HSM
- Increased startle response
182
What is the MOA and use of pimozide?
antipsychotic used to treat tics of tourettes
183
Meconium ileus suggests a diagnosis of what until proven otherwise?
CF
184
DIC is a common complication of what hematologic malignancy?
APML
185
When should infants have IVIG for varicella when exposed?
- MOthers have s/sx within five days before, or two days after delivery
- hospitalized prematures infants over 28 weeks
- Less than 28 weeks gestational age premie
186
What are the risks of exchange transfusion for hyperbilirubinemia?
- Bleeding
- Blood-borne infections
- Electrolyte abnormalities
- Coagulopathy
187
What are the first s/sx of kernicterus?
High pitched cry
Lethargy
Poor feeding
Hypotonia
188
Why are pts with CF predisposed to developing hyponatremia?
Excessive loss of NaCl in sweat
189
A cyanotic infant that improves with crying is suspicious for what defect?
Choanal atresia
190
In infants with Aortic stenosis, what symptom that can develop carries the worst prognosis?
dyspnea
191
What neck finding may be present in an infant with GERD?
Chin up, neck turned
192
How can you differentiate between primum and secundum ASDs?
Primum is d/t an endocardial cushion defect, as so will present with other valvular pathology
Secundum will be a an ASD alone, usually
193
If a pt with Hirschsprung's disease passes meconium within the first 48 hours without issue, and is not diagnosed what sequale can result?
Hypoproteinemia, FTT, and constipation
194
What is the usual presentation of transposition of the great vessels?
- Cyanosis
- PDA
- Egg shaped heart on CXR
195
What is the murmur of persistent truncus arteriosus?
Early systolic click and holosystolic murmur best heard at the 3rd and 4th intercostals spaces, similar to VSD murmur
196
What is the most common cause of croup?
Parainfluenza virus
197
What are the classic CXR findings of NRDS?
Air bronchograms and diffuse ground glass opacities
198
What are the classic CXR findings of persistent pHTN?
Clear with decreased markings
199
What are the classic CXR findings of meconium aspiration?
- Pneumothorax OR
| - Patchy infiltrates, coarse streaking, hyperinflation
200
What are the classic CXR findings of transient tachypnea of the newborn?
Perihilar streaking in the interlobular fissures of the chest
201
What is the most common causative agent of pneumonia in an infant with CF? Adolescent?
Infant = staph aureus
| Adolescent + = Pseudomonas
