Term
| What is the differential role of X-ray and bone scan in screening for NAT? |
|
Definition
1) X ray can show old injuries, but may miss acute injuries
2) Bone scan shows fractures within 48h |
|
|
Term
| Is C. tachomatis identified in an infant sufficient evidence of sexual abuse? |
|
Definition
| NO. Gonorrhea is, but Chlamydia can be acquired from mother during delivery |
|
|
Term
| What are the 5 cyanotic CHDs? |
|
Definition
Terrible T's
1) Truncus Arteriosis: 1 arterial vessel
2) Transposition: 2 arteries switched. Severe within 1st hours of birth
3) Tricuspid atresia
4) TOF
6) TAPVR |
|
|
Term
Name the disorder associated with each CHD
1) ASD and endocardial cushion defects
2) PDA
3) Coarctation of aorta
4) Congenital heart block
5) Supravalvular aortic stenosis |
|
Definition
1) Trisomy 21
2) Rubella
3) Turner (bicuspid)
4) Neonatal lupus
5) Williams syndrome |
|
|
Term
Name the disorder associated with each CHD
1) Transposition and asymmetric septal hypertrophy
2) Ebstein anomaly (atrialization of RV)
3) Conotruncal abnormalities |
|
Definition
1) Maternal diabetes
2) Lithium
3) Digeorge (TOF) |
|
|
Term
| What symptoms are associated with large ASDs and VSDs respectively? What auscultation findings are typical? |
|
Definition
1) ASD
- Easy fatiguability, respiratory infection, FTT
- Wide fixed S2, SEM at left USB and mid-diastolic rumble at left LSB
- RVH
2) VSD
- Respiratory infections, dyspnea, FTT
- Harsh holosystolic murmur at LLSB (louder for small)
- Mid-diastolic apical rumble
- Leads to LVH |
|
|
Term
| What is the differential for infants presenting in shock like state in first few weeks of life (hint; think of 4 things)? |
|
Definition
1) Sepsis
2) Inborn errors of metabolism
3) Ductal-dependent CHD
4) CAH |
|
|
Term
| What is the first step in workup in a child that presents with a continuous "machine like" murmur with a widened pulse pressure? |
|
Definition
Sounds like PDA. Get Echo.
Treat with indomethacin unless PDA needed for survival (TOF, transposition, hypoplastic LH syndrome) or contraindicated (IVH)
PGE will keep it open |
|
|
Term
| How is coarctation diagnosed and managed? |
|
Definition
1) Echo. May see "rib notching" due to collateral circulation
2) Maintain PDA with PGE, surgical correction |
|
|
Term
| What defects are associated with DiGeorge syndrome? |
|
Definition
CATCH-22
- Cardiac
- Abnormal facies (micrognathia, long face, short philtrum, low-set eras)
- Thymic aplasia
- Cleft pallate
- Hypocalcemia (2/2/ parathyroid hypoplasia)
- 22q11 deletion |
|
|
Term
| What are the 2 major risk factors for Transposition of arteries? |
|
Definition
Look for cyanosis in first few hours of life. "Egg shaped" silhouette on CXR
1) Maternal Diabetes
2) DiGeorge |
|
|
Term
| Why do children with TOF squat? How is it treated? |
|
Definition
1) Increases SVR, increasing blood flow to pulmonary vasculature to overcome RV outflow obstruction
2) Treatment
- Tet spells treated with O2, propranolol, phenylephrine, knee-chest position, and morphine
- Maintain PDA with PGE |
|
|
Term
What are the critical gross motor developmental milestones at the following times?
1) 2 months
2) 4-5 months
3) 6 months
4) 12 months
5) 2 years
6) 3 years
7) 4 years |
|
Definition
1) Lifts head when prone
2) Rolls front to back
3) Sits unassisted
4) Walks alone
5) Walks up.down steps
6) Tricycle
7) Hops |
|
|
Term
What are the critical fine motor developmental milestones at the following times?
1) 6 months
2) 9-10 months
3) 12 months
4) 3 years
5) 4 years
6) 5 years |
|
Definition
1) transfers
2) 3-finger pincer
3) 2-finger pincer
4) circle
5) cross
6) triangle |
|
|
Term
What are the critical language developmental milestones at the following times?
1) 2 months
2) 4-5 months
3) 6 months
4) 12 months
5) 2 years
6) 3 years |
|
Definition
1) coos
2) laughs/squeels
3) babbles
4) 1-3 words, 1 step command
5) 2-word phrases
6) 3-word phrases |
|
|
Term
What are the social developmental milestones at the following times?
1) 2 months
2) 6 months
3) 12 months
4) 2 years
5) 4 years |
|
Definition
1) Social smile
2) Stranger anxiety
3) Separation anxiety, 1-step commands
4) 2-step commands, removes clothes
5) Cooperative play |
|
|
Term
| True or False: Infants can lose 5-10% of body wight over first few days, but should return to BW by 14 d and double by 4-5 months |
|
Definition
| True! Also triple by 1 year and quadruple by 2 years |
|
|
Term
| True or False: Constitutional delay ultimately resolves |
|
Definition
| True, they will reach target eventually |
|
|
Term
| What diseases are associated with each of the 3 trisomy's? |
|
Definition
1) 21 (down's)
- Duodenal atresia
- Hirschsprung
- CHD (AV canal most common)
- Risk of ALL, hypothyroid and early-onset AD
2) 18 (Edward's)
- Rocker bottom feet, micrognathia, Horshoe kidneys, Death by 1 year
3) 13 Patau
- Micropthalmia, microcephaly, holoprosencephaly
- CHD
- Death by 1 year |
|
|
Term
Name the disease and genetic abnormality.
Hypogonadism in males, with testicular atrophy, tall stature, gynecomastia.
Treated with Testosterone |
|
Definition
Klinefelter, 47, XXY
Inactivated X chromosome and associated with advanced maternal age |
|
|
Term
Name the disease and genetic abnormality.
Primary amenorrhea, Lymphedema of hands and feet, horshoe kidney |
|
Definition
Turner Syndrome, 45 XO (missing 1 X chromosome, no Barr body)
Treat ovarian dysgensis with estrogen. Watch out for coarctation |
|
|
Term
What is the inheritance pattern, etiology and appropriate treatment for the following?
Normal at birth, but presents at few months with intellectual disabilities, eczema, blond hair, blue eyes and musty urine odor |
|
Definition
1) PKU, AR inheritance
2) Loss of phenylalanine hydroxylate or THB cofactor leads to accumulation of phenylalanine, which is converted to ketones
3) Risk of heart disease. Increase tyrosine in diet and lose the phenylalanine (sweeteners) |
|
|
Term
What is the inheritance pattern, etiology and appropriate treatment for the following?
Large jaw, testes and ears with autistic behaviors in males |
|
Definition
1) Fragile X: XL dominant
2) Defect in methylation of FMR1 gene, TNR disorder with anticipation
3) Symptomatic management |
|
|
Term
What is the inheritance pattern and etiology for the following?
Severe neuropathic limb pain with angiokeratomas and telangiectasis.
Risk of renal failure and TE events |
|
Definition
1) Fabry disease: XLR
2) Deficiency of alpha-galactosidase A, leading to accumulation of ceramics trihexoside in heart, brain and kidneys |
|
|
Term
What is the inheritance pattern and etiology for the following?
Progressive CNS degeneration with optic atrophy, spasticity and death within first 3 years of life |
|
Definition
1) Krabbe disease: AR
2) Absence of galactosylceramide leads to accumulation of galactocerebroside in brain. |
|
|
Term
What is the inheritance pattern and etiology for the following?
Anemia, thrombocytopenia and "crinkled paper" appearance of cells in bone marrow. Cherry red spot also possible. |
|
Definition
1) Gaucher disease: AR
2) Glucocerebrosidase deficiency, leading to accumulation of glucocerebroside in brain, liver, bone marrow and spleen.
Adults can have normal life span |
|
|
Term
What is the inheritance pattern and etiology for the following?
Cherry red spot and HSM. Dead by age 3 |
|
Definition
1) Niemann-Pick: AR
2) Loss of sphingomyelinase leading to buildup in reticuloendothelial and parenchymal cells. |
|
|
Term
What is the inheritance pattern and etiology for the following?
Cherry red spot without HSM in ashkenazi jews. Normal until 3-6 months, when they get weak and show regression of development. |
|
Definition
1) Tay Sachs: AR
2) loss of Hexaminidase leading to GM2 ganglioside accumulation |
|
|
Term
What is the inheritance pattern and etiology for the following?
Demyelination that leads to progressive ataxia and dementia |
|
Definition
1) Metachromatic Leukodystrophy: AR
2) Arylsulfatase A deficiency, leading to accumulation of sulfated |
|
|
Term
What is the inheritance pattern and etiology for the following?
Corneal clouding, intellectual disability and gargoylism |
|
Definition
1) Hurler: AR
2) Deficiency of alpha-L-iduronidase |
|
|
Term
| Neonate presents with obstruction of distal ileum due to thickened meconium. What is your next step? |
|
Definition
Meconium iléus is classic for CF.
Get sweat chloride test and confirm with genetics |
|
|
Term
| Why are you concerned about a 2 year old with chronic sinupulmonary disease and FTT? How would you treat? |
|
Definition
1) CF (chromosome 7, AR inheritance): FTT due to pancreatic insufficiency and sinopulmonary disease due to abnormal secretions
2) Treat
- Malabsorption: pancreatic enzymes and fat-soluble vitamins
- Health maintenance: high-calorie and high-protein diet
- Antibiotics need to cover Pseudomonas |
|
|
Term
What is the concern in a child who presents with abrupt-onset, episodic abdominal pain, with flexed knees, vomiting and bloody stools?
What is the next step? |
|
Definition
Intussusception
- US looking for target sign during episode
- Air insufflation enema is diagnostic and therapeutic |
|
|
Term
| What neonatal GI abnormality is associated with maternal erythromycin ingestion? What is the first step in workup? |
|
Definition
Pyloric stenosis: Also with TE fistula and formula feeding
Projectile, non-bileous emesis around 3-5 weeks with olive-shaped mass.
Order abdominal US. Make NPO and correct acid-base abnormalities
Pyloromyotomy is definitive |
|
|
Term
| What do you think about in a child with painless rectal bleeding? What is your first step? |
|
Definition
Meckel's diverticulum (failure of OM duct obliteration)
Get T-99 scan to detect ectopic gastric tissue.
Treatment is surgical excision |
|
|
Term
Neonate presents with failure to pass meconium within 48 hours of birth, bilious vomiting and FTT.
What do you expect to see on rectal exam. What is your next step? |
|
Definition
Probably Hirschsprung's (but ro CF)
Should see explosive discharge f stool.
Order barium enema (as opposed to Intusciception). Confirm with rectal biopsy
Treatment is two-stage surgical repair |
|
|
Term
| 2 week old infant presents with bilious emesis, abdominal pain and bloody stool. What is your next step? |
|
Definition
Sounds like Malrotation/Volvulus
1) UGI is study of choice, showing abnormal location so ligament of Trieitz. AXR will show "birds beak"
2) Place NG tube to decopress and give IV fluids. Emergent surgical repair indicated |
|
|
Term
| What do you worry about in a 3 week old with FTT and bloody stools with an AXR showing dilated bowel loops and pneumatosis intestinalis? |
|
Definition
Sounds like NEC
Make NPO, and surgery if perforation or worsening radiographic signs (repeat AXR every 6h)
Complications inclue strictures and short-gut syndrome |
|
|
Term
8 month old boy suffering from recurrent infections from Pseudomonas, S. pneumonia and H. influenza. He is lacking tonsils
What is your first step in diagnosis and treatment? |
|
Definition
Bruton agammaglobulinemia: XLR B cell disorder (extracellular pathogens). Appears > 6 months because maternal antibodies run out
1) Order Quantitative IG levels, absent B cells and normal T cells
2) Treat with ppx antibiotics and IVIG |
|
|
Term
15 year old boy suffers from recurrent pyogenic upper and lower respiratory infections. All Ig levels are low.
What is your first step in diagnosis and treatment? |
|
Definition
CVID: Combined B- and T-cell defect , where B cell number is normal, but plasma cell numbers are very low.
1) Quantiative Ig levels to confirm
2) Treat with IVIG. Watch out for lymphoma and autoimmune disease |
|
|
Term
2 year old boy develops recurrent respiratory and GI infections. He also had a strange reaction to blood transfusion.
What is your first step in diagnosis and treatment? |
|
Definition
1) B cell disorder IgA deficiency: Order Quantitative IgA levels
2) Be careful with IVIG (IgA antibodies can develop). Give IgA-depleted IVIG |
|
|
Term
| Why might a neonate present with tetany in first few days of life along with an absent thymus. What do you do next? |
|
Definition
Autosomal Dominant DiGeorge Syndrome: Tetany from hypocalcemia (CATCH-22)
T cell disorder, so risk is virus, fungi and PCP pneumonia.
1) Order T cell count, mitogen stimulation response
2) Treat with BM transplant and IVIG. PCP prophylaxis also necessary (TMP-SMX) |
|
|
Term
| What is the typical manifestation of the AR disorder involving mutations in genes responsible for dsDNA repair? |
|
Definition
Ataxia-Telangiectasia: cerebellar ataxia and oculotutaneous telangiectasia.
Watch out for malignancies, including NHL, gastric carcinoma |
|
|
Term
| How can you distinguish between CVID and SCID? |
|
Definition
1) CVID: presents at 15-30 years
- all Ig is low, b cell number normal, plasma cells low: Give IVIG
2) SCID: presents in early childhood
- lack of B and T cell numbers from loss of adenosine deaminase
- Needs PCP ppx |
|
|
Term
| Why might a neonatal boy have bleeding issues, eczema and recurrent OM? |
|
Definition
Wiskot-Aldrich syndrome: XLR (boys only)
Increased IgE/IgA and decreased IgM with thrombocytopenia
High risk of atopic disorders, encapsulated organism infection and lymphoma/leukemia.
Treatment is supportive with IVIG and antibiotics, can also consider BMT |
|
|
Term
| What are the catalase + organisms and what disease predisposes to this type of infection? |
|
Definition
1) S aureus, E. coli, Candida, Klebsiella, Peusdomonas, Aspergillus
2) CGD: XL or AR defidiency in SO production by PMNs and macrophages
Look for anemia, LNA and hypergammaglobulinemia |
|
|
Term
| Child presents with recurrent infections, LNA, anemia and hypergammaglobulinemia. What do you do next? How would you treat? |
|
Definition
Sounds like CGD:
1) Order Dihydrorodamine (DHR) test or Ntiroblue tetrazolium test. Also get ANC.
2) Treat with daily TMP-SMX. BMT and gene therapy also options. IFN-y can reduce incidence of bad infections |
|
|
Term
| What are you worried about in a child who exhibited delayed separation of umbilical chord (>14d). How would you manage? |
|
Definition
LAD. Defect in chemotaxis with decreased phagocytic activity.
Look for absent pus with minimal inflammation at wounds. High WBC count is also characteristic
Treat with BMT |
|
|
Term
| What syndrome is associated with partial oculocutaneous albinism, peripheral neuropathy and neutropenia? What do you do about it? |
|
Definition
Chediak-Higashi (Phagocytic deficiency): AR defect in PMN chemotaxis/microtubule polymerization
1) Look for giant granules in PMNs
2) Treat with BMT |
|
|
Term
| What syndrome is associated with course facies, abscesses (s. aureus), retained primary teeth, eosinophilia and severe eczema? |
|
Definition
Jobs Syndrome (Hyper IgE).
Treat with penicillinase-resistant ABX and IVIG. |
|
|
Term
| What disorder presents with recurrent episodes of angioedema lasting 2-72 hours, provoked by stress and trauma? |
|
Definition
C1 esterase deficiency: AD disorder that can lead to life-threading airway edema
Give C1 esterase and FFP |
|
|
Term
| What disorder presents with recurrent Neiserria infections? How do you manage it? |
|
Definition
C5-C9 deficiency (cannot form MAC).
Give meningococcal vaccine and antibiotics |
|
|
Term
| How is Kawasaki Disease managed? |
|
Definition
High dose ASA and IVIG (prevent aneurysms). Continue thereafter with low-dose ASA
Get Echo at diagnose and then at 2w and 6-8w later |
|
|
Term
| What are the classic findings of Kawasaki Disease? |
|
Definition
CRASH and BURN
- Conjunctivitis
- Rash
- Adenopathy (painful)
- Strawberry tongue
- Hands and feet
BURN: Fever > 104 for 5d |
|
|
Term
What are the classic findings of each of the following forms of JIA?
1) Oligoarthritis
2) Polyarthritis
3) Systemic (Still disease) |
|
Definition
1) 4 or fewer joints with uveitis. ANA + and RF -
2) 5 or more joints, symmetric. ANA + and RF +/-
3) Recurrent high fevers, salmon colored rash, ANA-, RF - |
|
|
Term
| What is the most common cause of Bronchiolitis? How is it managed? |
|
Definition
1) RSV: low grade fever and rhinorrhea progressing to respiratory distress. Increased RR earliest finding
2) Supportive with hydration, supplemental O2. NOT steroids.
- High risk infants get Ribavirin and ppx with Palivizumab in autumn/winter |
|
|
Term
| How is severe croup managed? |
|
Definition
parainfluenza virus leading to sub-glottic stenosis
O2, IM steroids and nebulizer racemic Epinephrine. Consider intubation as necessary |
|
|
Term
What are you worried about in child with acute-onset high fever, dysphagia, drooling and neck hyperextension?
What do you do? |
|
Definition
Epiglottitis
- Secure airway, use fiberoptic visualization. Thumbprint sign can be seen on lateral X ray.
- Treatment is intubation and then IV antibiotics |
|
|
Term
| What are the primary organisms involved in meningitis in 1) neonates, 2) Infants, 3) adolescents? |
|
Definition
1) GBS, Listeria, E. coli: Give ampicillin and Cefotaxime or gentamicin
2) S. pneumo, N. meningigitis, H. influenza: Ceftriaxone and Vancomycin
3) N. meningitides, S. pneumo: Ceftriaxone and Vanc |
|
|
Term
| Why not give neonates Ceftriaxone? |
|
Definition
| Biliary sludging and kernicterus |
|
|
Term
| How can you distinguish bacterial Tracheitis from Croup? |
|
Definition
| Only croup responds to racemic epinephrine |
|
|
Term
| How can you distinguish between retropharyngeal abscess and PTA? |
|
Definition
Age is big deal
1) RPA: 6 months to 6 years due to GAS
- Acute onset, truisms, drooling
- Neck extension is characteristic
- Treatment is I and D with antibiotics
2) PTA
- Usually > 10 years due to GAS
- Trismus, uvular deviation, hot potato voice
- Also I & D +/- tonsillectomy with antibiotics |
|
|
Term
| What are the appropriate treatment measures for neonatal conjunctivitis due to C. trachoma's, Gonococcal and HSV? |
|
Definition
1) C. trachomatis
- Topical and oral erythromycin
2) Gonorrhea
- IV/IM 3rd generation cephalosporin
3) HSV
- 14-21d systemic acyclovir along with topical (Vidarabine) |
|
|
Term
What is the likely etiology of each of the following types of neonatal conjunctivitis?
1) Bilateral purulent conjunctivitis with eyelid edema
2) Eyelid swelling and scant watery discharge
3) Conjunctival injection, watery discharge and vesicular eruptions surrounding eyes |
|
Definition
1) Gonorrhea: Give IV/IV cephalopsporing
2) C. trachomatis: Topical and oral erythromycin
3) HSV-2: 14-21d acyclovir and topical vidarabine |
|
|
Term
| What do you order in a 4 month old with post-tussive emesis? How would you treat? |
|
Definition
1) Nasopharyngeal culture for Pertussis
2) Hospitalize < 6 months. Give Azithromycin x 10d
- Close contacts get ppx azithromycin x 5d |
|
|
Term
What is the etiology and important complications of the following?
Sun-sensitive, slapped cheek rash with erythematous rash starting on arms and spreading to trunks and legs. |
|
Definition
1) Erythema infectious: Parvovirus B 19
2) Arthoropathy, Aplastic crisis |
|
|
Term
What is the etiology and important complications of the following?
Low-grade fever, cough, coryza and conjunctivitis with buccal mucosa spots. |
|
Definition
1) Measles: Paramyxovirus
2) OME, PNA and laryngotracheitis are common complications. Subacute sclerosis panecephalitis is rare. |
|
|
Term
What is the etiology and important complications of the following?
Posterior auricular LNA with maculopapular rash spreading from head to toe. |
|
Definition
1) Rubella virus
2) Encephalitis, Thrombocytopenia, Congenital (PDA, deafness, cataracts, intellectual disability) |
|
|
Term
What is the etiology and important complications of the following?
High fever for 3-4d followed by maculopapular rash spreading from trunk outwards. |
|
Definition
1) Roseola infantum: HHV 6 and 7
2) Febrile seizures are worry |
|
|
Term
What is the etiology and important complications of the following?
Fever and oral pain with oral ulcers, and vesicular rash on H and F |
|
Definition
1) Hand-foot-mouth: Coxackie A
2) Self-limited |
|
|
Term
What neonatal infection is described by each of the following? What is the mode of transmission?
1) Chorioretinitis, hydrocephalus and blueberry muffin rash
2) PDA, cataracts, deafness
3) Hearing loss, seizure, petechial rash, periventricular calcifications
4) Encephalitis, vesicular lesions
5) Saddle nose deformity, short maxilla and deafness |
|
Definition
1) Toxoplasmosis, cat feces
2) Rubella, respiratory droplet
3) CMV, sexual, organ transplant
4) HSV-2, skin or MM contact
5) Syphilis, sexual contact |
|
|
Term
| What are the primary risk factors for Kernicterus? How do you treat? |
|
Definition
Bilirubin deposition in basal ganglia, pons and cerebellum > 25-30
High cry, hypertonicity and seizures
1) Prematurity, Asphyxia, Sepsis
2) Phototherapy for uncongugated +/- exchange transfusion
- No phototherapy for conjugated (skin bronzing) |
|
|
Term
| What is the typical presentation of an infant with TE fistula? What is the first step in workup? |
|
Definition
1) Polyhydramnios in utero, inability feed, respiratory distress
2) Get CXR, confirm with bronchoscopy. Treatment is surgical
Look for VACTERL (vertebral, anal, cardiac, TE, renal, limb) |
|
|
Term
| How is congenital DH managed? |
|
Definition
- US in utero or postnatal CXR to diagnose
- High-freuency ventilation or ECMO to manage pulmonary hypertension leading to surgical repair |
|
|
Term
| What is the difference in management for Gastroschisis vs. Omphalocele? |
|
Definition
| Gastroschisis needs surgery soon, Omphalocele should be delayed for resuscitation |
|
|
Term
Neonate with trisomy 21 presents with bilious emesis within hours of first feeding. Double bubble is seen on AXR.
What do you do next? |
|
Definition
| Duodenal atresia. Surgery |
|
|
Term
48h old infant presents in respiratory distress with RR of 65. Nasal flaring and retractions are present.
What is going on and what is your next step? |
|
Definition
Sounds like RDS. Manage with CPAP or intubation and provide artificial surfactant.
**Pretreat mothers at risk for prematurity with CS if < 30 weeks. If > 30 weeks, monitor L/S ratio and presence of phosphatidylglycerol in amniotic fluid** |
|
|
Term
| What are the common complications of RDS? |
|
Definition
1) Persistent PDA
2) BP dysplasia
3) R of prematurity |
|
|
Term
What are the key findings in the following Neonatal Lung pathologies?
1) RDS
2) Transient tachypnea of newborn
3) Meconium aspiration
4) Congenital PNA |
|
Definition
1) Ground glass, air bronchograms (Give CPAP or intubation)
2) Perihilar streaking in interlobular fissues
3) Coarse, irregular infiltrates, PNX
4) Nonspecific patchy infiltrates |
|
|
Term
|
Definition
No cure.
Spasticity with diazepam, dantrolene or baclofen |
|
|
Term
| What does a greenish soft-tissue tumor of the skin in a child make you think about? |
|
Definition
|
|
Term
| What is the typical workup for suspected pediatric leukemia? |
|
Definition
ALL>AML
- CBC, Bone marrow aspirate, CXR (ro mediastinal mass) |
|
|
Term
| How is tumor lysis syndrome treated? What is a common precipitating cause? |
|
Definition
1) Hydration, diuretics, allopurinol (reduce risk of urate nephropathy)
2) Corticosteroids |
|
|
Term
1 year old presents with contender abdominal mass, horner syndrome and hypertension.
What is your next step? |
|
Definition
Concerning for Neuroblastoma (look for sub-q nodules)
1) FNA of tumor looking for small, round, blue cells
2) Elevated 24h vanillylmandelic acid or homovanillica cid)
3) Stage with CT, bone scan and BM aspiration |
|
|
Term
|
Definition
| Wilm's tumor, Aniridia, Gu abnormalities and mental Retardation |
|
|
Term
| How do neuroblastoma presentations differ from Wilm's tumor? |
|
Definition
| Neuroblastoma will have systemic symptoms, whereas Wilm's will be asymptomatic |
|
|
Term
| What are the major differentiating features between Ewing Sarcoma and Osteosarcoma? |
|
Definition
1) Ewing
- Affects mid shaft of long bones (Onion skin)
- Systemic symptoms common
- Leukocytosis and increased ESR
2) Osteosarcoma
- Metaphyses of long bones
- Risk of metastasis
- No systemic symptoms
- Increased Alk Phos with Sunburst appearance
- need Chest CT to ro mets |
|
|
Term
How are the following pediatric orthopedic injuries managed?
1) Clavicular fracture
2) Nursemaid elbow (radial head subluxation)
3) Supracondylar humerus fracture
4) Osgood-Schlatter |
|
Definition
1) Sling: birth related and brachial plexus injury
2) Manual reduction by gentle supination of elbow
3) Cast immobilization with pinning if displaced
- Brachial artery is close by and there is risk of Volkmann conjecture (compartment syndrome of forearm)
4) Decrease activity for 2-3 months with Neoprene brace |
|
|
Term
| What is the primary mortality in Duchenne's MD due to? |
|
Definition
High-output CF from fibrosis
XLR deletion of dystrophin gene. In Becker, amount of dystrophin is normal, but protein is abnormal |
|
|
Term
| Why is treatment of developmental dysplasia of hip? |
|
Definition
Early treatment crucial, because of risk of AVN
1) < 6 months: Pavlik harness (flex and abduct) to prevent AVN
2) 6-15 months: Spica cast
3) 15-24 months: Open reduction followed by spica cast |
|
|
Term
| What is concerning about a painless limp in a 4 year old boy with thigh atrophy? There is limited abduction and internal rotation. |
|
Definition
Legg-Calve-Perthes AVN of femoral head.
Usually just observe, unless severe, then brace |
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Term
| What is concerning about a painful limp in a 12 year old obese boy? What is your next step? |
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Definition
Slipped Capital Femoral Epiphysis is painful (vs. Legg-calve-perthes)
1) Radigraphs of both hips in AP and frog-leg views
2) Immediate screw fixation to reduce risk of AVN
- NO WEIGHT BEARING |
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Term
| Describe well child care safety seat indications |
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Definition
1 )<2 years: rear facing in back of car
2) >2 years and > 40 lb, face forward |
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Term
| When should solid foods be introduced to neonate? What about cos milk? |
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Definition
| 6 months solids, 12 months cows milk |
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Term
| What are the absolute contraindications to childhood vaccinations? |
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Definition
1) Egg allergies that are life threatening should not get MMR
2) Encephalopathy within 7d of prior pertussis vaccination
3) Avoid live (Polio, VZV, MMR) in immunocompromised and pregnant patients (Except HIV can get MMR and VZV) |
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Term
| What are the treatment indications for childhood lead exposure? |
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Definition
Intermittent abdominal pain, peripheral neuropathy and possibly acute encephalopathy
1) < 45 and asymptomatic: retest in 1-3 months
2) 45-69: chelation with inpatient EDTA or outpatient oral DMSA
3) > 70: Inpatient EDTA + BAL (with IM dimercaprol) |
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Term
Male infant presents with distended, palpable bladder and reduced urine output.
What is your best guess as to whats going on? What do you do next? |
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Definition
Posterior urethral valves: can cause VUR and recurrent UTIs
1) Get voiding cystourethrogram (if 2-24 months, get US first)
2) Treat infections aggressively
- mild reflux gets daily ppx TMP-SMX
- Surgery if high grade. |
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Term
| What is the major risk factor for Cryptocidism? |
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Definition
Low birth weight.
Orchiopexy for prepubertal boys is indicated. Otherwise orchiectomy necessary. |
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Term
| What are the major SE of using methylphenidate to treat ADD? |
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Definition
1) Nervousness
2) Lack of sleep
3) Loss of appetite
4) Tachycardia |
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Term
| What is the notable CBC finding in Pertussis infection? What is the first-line treatment? |
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Definition
1) Lyphocytosis: get culture or PCR
2) Macrolide (Azithromycin) |
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Term
What is the concern in a patient with hemolytic anemia, jaundice and splenomegaly? What is the next step?
MCHC is elevated and RBC distribution width is elevated |
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Definition
Hereditary Spherocytosis
Need folate supplementation and often Splenectomy
Watch out for aplastic crisis with Parvovirus infection |
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Term
| Child presents with painful eye movements, prooptsosis and double vision. He had recent sinus infection. What is your next step? |
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Definition
Sounds like Orbital Cellulitis 2/2 bacterial sinusitis
Get CT with contrast if abscess suspected |
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Term
| What congenital syndrome is associated with cystic hydroma? |
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Definition
| Turner (45 XO): lymphatic dysgenesis |
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Term
| Why might you see a microcytic anemia with target cells and disproportionally elevated RBC count in a patient of mediterranean descent? What management is indicated? |
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Definition
| Beta thalassemia minor. No therapy |
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Term
13 year old girl presents with amenorrhea. On imaging, you find absent uterus and upper vagina, but normal ovaries.
What do you expect her karytype to be? |
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Definition
Sounds like Mullerian Agenesis: 46 XX
If only vagina involved, would be Transverse vaginal septum |
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Term
Infant with FTT, bilateral cataracts, jaundice and hypoglycemia
What do you do next? |
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Definition
Sounds like Galactosemia: eliminate galactose
Galactose-1-phosphate uridyl transference deficiency |
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Term
| What is the management of a patient with nocturnal peri-anal pruritus and a positive cellophane tape test? |
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Definition
Enterobius Vermicularis
Albendazole and pyrantel pamoate (better if pregnant) are 1st line |
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Term
Neonate presents with hypoglycemia, respiratory distress and cyanosis. You suspect polycythemia.
What are the RF for this and how is it managed? |
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Definition
1) RF: delayed chord clamping, Intrauterine hypoxia or Erythocyte transfusion during pregnancy
2) Tx: Exchange transfusion with saline if symptomatic. Otherwise hydration is sufficient |
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Term
| What is the underlying etiology of congenital hypoplastic anemia (macrocyitic) with congenital anomalies? |
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Definition
Diamond Blackfan
Defect in intrinsic erythroid progenitor cells leads to apoptosis |
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Term
| What is the management of CO poisoning? |
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Definition
| 100% oxygen by non-rebreathing face mask. |
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Term
| What are the major risk factors for constipation in children. How is it managed? |
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Definition
1) Toilet training, school entry and transition to solid foods from milk are RFs
2) Increase water intake, reduce milk, increase fiber, oral laxatives are 1st line. |
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Term
| When should pre-term infants receive vaccines? |
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Definition
Vaccines by chronological age not GA.
Exception is HBV, which should be >2kG |
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Term
| What vitamin deficiency causes angular cheilitis (fissues at corners of lips), Glossitis, stomatitis, normocytic-normochromic anemia and seborrheic dermatitis? |
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Definition
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Term
| What is the concern in a child of a Type O mother and a Type AB father? |
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Definition
| HD of newborn: mild anemia and jaundice treated with phototherapy |
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Term
| True or False: LAD on neonatal EKG is often normal |
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Definition
| FALSE. Never normal. Tricuspid atresia is one cause |
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Term
| Why might you see purpura on legs and buttoms of a child with arthralgia and with normal platelets? What is the risk? |
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Definition
1) HSP- IgA-mediated vasculitis
2) Intussusception (ileal-ileal) requiring surgery
- Also renal failure from glomerular deposition
- Otherwise hydration and steroids |
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Term
| Who is at greatest risk for viral myocarditis? How is it managed? |
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Definition
Newborns: Coxsackie and Adenovirus
Look for holosystolic murmur and hepatomegaly (RHF)
Supportive t/x with diuretics and inotropes |
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Term
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Definition
XLR disease with pulmonary (abscess) and cutaneous infections w/ catalase-positive organisms. Also organism filled PMNs typical.1) Antimicrobial PPX with Bactrim and Itraconazole
2) IFN-y to boost intracellular killing. |
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Term
| Which form of hereditary conjugated hyper-bilirubinemia is associated with a black liver? |
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Definition
| Dubin-Johnson. NOT Rotor's |
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Term
| Is anemia of prematurity pathologic? Why does it occur? |
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Definition
Not really.
Due to diminished EPO levels, shortened RBC life span and blood loss
Just keep hydrated/iron and avoid blood draws |
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Term
| What is the management of Ewing Sarcoma? |
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Definition
| Pre-op radiation and chemo followed by surgery. |
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Term
Young boy who exclusively breastfed presents with enlarged skull with costochondral joints (rachitic rosary) and Genu Varum.
What happened? What is next step? |
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Definition
Vitamin D deficiency: Rickets
- Labs will show low Ca, low P and high AlkP/PTH, with low 25-OH vitamin D.
Replete! |
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Term
| What are the diagnostic findings typical of acute Rheumatic fever and how is it managed? |
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Definition
1) Major: JONES (joints, heart, nodules, erythema marginatum, Sydenham chorea)
2) Tx: Long-acting IM Benzathine Penicillin G until Adulthood |
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Term
| How can you distinguish between Herpangina (Cocksackie A) and Herpetic Gingivostomatitis (HSV)? |
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Definition
1) Both have fever + pharyngitis
2) Herpangina has gray vesicles/ulcers on posterior pharynx. - - Tx is supportive.
3) HG has clusters of small vesicles on anterior oropharynx. Give acyclovir. |
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Term
Initially well-appearing infant becomes jaundiced, with pale stools, dark urine and conjugated hyperbilirubinemia and hepatomegaly.
What is going on? What do you do next? |
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Definition
Sounds like Biliary Atresia
- First step is US showing absent or abnormal gallbladder. Intraoperative cholangiogram is gold standard.
- Hepatoportoenterostomy (Kasai), Liver transplant are definitive |
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Term
| How can SIDS be prevented? |
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Definition
1) Sleeping supine
2) smoke avoidance
3) placing pacifier in mouth
4) as well as room-sharing |
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Term
Neonate was normal at birth, but has been gradually developing apathy, weakness, hypotonia, sluggish movement.
You notice a large tongue and umbilical hernia.
What is going on? |
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Definition
Congenital hypothyroidism.
Get T4 and TSH. Treat with Levo if necessary |
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Term
| Which children need the Meningococal Vaccine? |
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Definition
1) Age 11-12 and 13-18 who did not receive initial vaccine
2) Those vaccinated prior to age 16 need a booster at 16-21 |
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Term
| What is the differential for a middle mediastinum mass? |
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Definition
| Bronchogenic cyst, tracheal tumor, pericardial cyst, lymphoma, aortic aneurysm |
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Term
| What are the major causes of fetal growth restriction (symmetric vs. asymmetric)? |
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Definition
1) Symmetric: 1st or 2nd trimester (<28w) due to fetal factors - - chromosomal
- congenital infection (CMV)
- congenital anomalies
2) Asymmetric: fetal adaptation to suboptimal maternal factors (head sparing)
- vascular disease
- SLE
- substance abuse
- cyanotic heart disease. |
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Term
| What are the contraindications for Rotavirus vaccination? |
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Definition
| H/x of intussusception, SCID and uncorrected congenital malformation |
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Term
| What is a complete AV septal block and under what conditions does it typically present? |
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Definition
1) Down’s syndrome: failure of endocardial cushion merging resulting in ASD and VSD as well as common AV valve
- Loud S2 (pulm HTN),
- SEM due to flow L-to-R shunt over ASD
- Holosystolic murmur of VSD |
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Term
| What is fetal hydantoin syndrome and what drugs is it related to? How is it different from fetal alcohol syndrome? |
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Definition
1) CBZ or Phenytoin use
2) Midfacial hypoplasia, microcephaly, clefts (not seen in FAS), digital hypoplasia, hirsutism, Dev delay |
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Term
What are the causes of unilateral cervical adenines in children?
What about bilateral? |
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Definition
1) Unilateral
- S. aureus and GAS: gender and red
- Anaerobic: dental caries, periodontal disease
- B. henselae: nodular at site of cat scratch
- M. avid: gradual onset, non-tender
2) Bilateral
- Adenovirus
- EBV/CMV: Mononucleosis |
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Term
| Which tick-borne disease is associated with hemolytic anemia and renal failure, but WITHOUT a rash? |
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Definition
Babesiosis
1) Diagnose with giemsa stained thick and thin blood smear
2) Treat with Quinine-clindamycin and Atovaquone-Azithromycin |
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Term
| How does Rubella present in childhood? How is it diagnosed and treated? |
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Definition
1) low-grade fever, conjunctivitis, “pink” maculopapular rash starting on face that spreads in cephalocaudal and centrifugal
2) PCR diagnosis with IgM or IgG. Treat with symptomatic |
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Term
What is the most common cause of hip pain in children?
What are the classic physical findings? |
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Definition
1) Transient synovitis: preceding viral infection or mild trauma
2) Hip is flexed, slightly abducted and externally rotated |
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Term
| How is iron poisoning of children treated? |
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Definition
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Term
| True or False: Polymiosisitis and Dermatomyositis is often a paraneoplastic syndrome of lung cancer |
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Definition
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Term
| What is breastmilk jaundice and how is it managed? |
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Definition
1) High levels of B-glucuronidase in breast milk deconjugates intestinal bilirubin and increases enterohepatic circuilation
2) Adequate breastfeeding and normal examination |
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Term
| What is first line therapy for isolated Enuresis in children > 5 years old? |
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Definition
Desmopressin (watch out for relapse and hyponatremia).
TCA is 2nd line |
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Term
| What is the first step in the workup of a patient that presents with signs of mental retardation, seizures and a port wine stain along the CN V distribution? |
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Definition
Sturge-Weber.
Get head imaging: Skull X ray will show pyriform intracranial calcifications that resemble tramline |
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Term
Child presents with skin itch, that is followed by development of erythematous, scaly lesions on the face, scalp and extensor surfaces.
She reports that similar symptoms have been triggered by excessive bathing, dry environments and stress in the past.
What is the pathophysiology and treatment of this condition? |
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Definition
Atopic Dermatitis (Eczema)
1) Epidermal dysfunction secondary to impaired synthesis of stratum corneum components
2) Avoid triggers, apply emollients, steroids for mod-severe cases |
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Term
An 8 year old female appears to be entering puberty. You find increased estrogen and thickened endometrium on US.
What is the next step and what is going on? |
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Definition
| Likely granulosa cell tumor (estrogen secreting): You need to get an endometrial biopsy to rule out hyperplasia. |
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Term
| What is the utility of CA-125 in diagnosing ovarian carcinoma in pre-menopausal women? |
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Definition
| None!. Only sensitive in post-menopausal! |
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Term
| Why is magnesium used in pre-term infants? |
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Definition
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Term
| What do you think about in an adolescent with hip pain that is worse at night and is unrelated to activity? |
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Definition
Osteoid Osteoma of proximal femur. Benign, bone-forming tumor
Will resolve wth NSAIDs- perform serial x-rays. |
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Term
Viral infection followed by petechiae, bleeding and TP in an 8 year old boy.
What do you do? |
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Definition
Sounds like ITP. Get smear and look for megakaryocytic.
Treatment of skin-only manifestation is observation, but if there is bleeding, give IVIG or steroids.
In adults, treat only if platelets <30k or bleeding is present. |
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Term
| Why might a child present with precious puberty, cafe au last spots and multiple bone defects? |
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Definition
| McCune Albright syndrome with Cushing syndrome secondary to hypercortisolism from ACTH-secreting pituitary tumor |
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Term
Neonate presents with painless bloody stools, eczema, regurgitation and vomiting.
There is a + FH for eczema and asthma
What is the management? |
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Definition
Sounds like milk- or soy-protein induced colitis.
1) Eliminate milk and soy from maternal diet of exclusively breastfed infants.
2) Initiate hydrolyzed formula in formula-fed infants |
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Term
| Child is bitten by stray cat. What do you do? |
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Definition
1) Copious irrigation and cleaning, but avoid closure.
2) PPX with amox/clavulanate +/- T booster as indicated
3) Pasteurella multicida and oral anaerobes.
**If dog or human bite in immunocompetent individual, observation would be sufficient** |
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Term
| What is the appropriate first-steps of management of suspected neonatal sepsis? |
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Definition
| Collect blood, urine and CSF before giving empiric antibiotics |
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Term
| Child with recent sore throat develops sharply demarcated, erythematous lesions with raised border with abrupt onset. What is this? |
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Definition
| Ersypelas. GAS is causative agent |
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Term
| How is GERD managed in infants? |
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Definition
| GERD in infant does not need treatment unless inadequate weight gain. If refractory, can thicken feeds and try PPI |
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Term
| What is the appropriate management of a discovered breast mass and how does it depend on age? |
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Definition
1) Age <30: US +/- mammogram
- Simple cyst (needle aspiration)
- Complex cyst/mass (image-guided biopsy)
2) Age >30: Mammogram +/- ultrasound
- Suspicious for malignancy (core biopsy)
- Cyst drained? Repeat exam in 2 months |
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Term
| Which children should receive Palivizumab for bronchiolitis prevention? |
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Definition
Palivizumab for infants who are
1) preterm <29w
2) chronic lung disease of prematurity
3) hemodynamically significant CHD. |
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Term
| You notice a small, vacular, bright-red papular lesion on a 3 year old's face. What do you do? |
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Definition
| Cherry (Senile) Hemangioma: Benign and require treatment only for cosmetic reasons |
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Term
| What are the major risk factors for IVH in premature infants? Why does it occur? How is it prevented? |
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Definition
1) <30w GA and <1500 g (3.3 lb)
2) Capillary fagility of subependymal germinal matrix and immature auto-regulation of CBF
3) Screen head US necessary as 50% asymptomatic
4) Antenatal maternal steroids can reduce incidence. |
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Term
| How is HER2+ breast cancer managed? What are potential concerns with treatment? |
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Definition
1) Trastuzumab (Herceptin) + Chemotherapy
2) Cardiac toxicity is issue (get echo before starting to look for baseline low EF) |
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Term
| 11 year old boy has been having LE pain at night, with resolution by morning. They have a Normal PE and activity level. Are you concerned? |
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Definition
| sounds like normal growing pains. If physical activity was impaired or pain was severe, could be benign osteogenic osteoma. |
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Term
| What are the 3 liver disease concerns in pregnancy? |
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Definition
1) Acute fatty liver of pregnancy (AFLP)
- 3rd trimester, serious liver failure
2) HELLP: Hemolysis, elevated liver enzymes and low platelets.
3) Intrahepatic cholestasis of pregnancy (ICP)
- Generalized pruritis and high bile acids
- Can give Ursodeoxycholic acid |
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