Pediatrics Flashcards
Kid with abdominal pain, obstructive jaundice, and a palpable RUQ mass
Biliary/choledochal cyst (resect it)
Liver path in Reye syndrome
Microvesicular steatosis
3 Hz spike-and-wave on EEG
Absence seizures (can be provoked with hyperventilation)
Criteria for Kawasaki disease
5 days of fever plus 4/5 of:
- Conjunctivitis
- Mucositis (fissured lips, strawberry tongue)
- Truncal rash
- Erythema of hands/feet
- Cervical lymphadenopathy
Triad of Henoch-Schonlein purpura
Two complications?
Triad (IgA vasculitis classically followed URI)
1. Lower extremity palpable purpura
2. Arthralgias/arthritis
3. Colicky abdominal pain
Complications:
1. Normal complement glomerulonephritis (IgA mediated)
2. Ileo-ileal intussusception.
What pathological type of disease is Henoch-Schonelin purpura?
Normal complement, IgA-mediated small vessel vasculitis
Kid with symmetric arthritis, longstanding daily fever, pink macular rash. Diagnosis?
Systemic juvenile idiopathic arthritis (Still’s disease)
Normal growth in first year of life
Triple weight, increased height by 50%
Vaccine that can lead to progressive neurologic deficits and encephalopathy
Pertussis (finish series with Td only)
CI to rotavirus vaccine
- Hx or intussusception or knwon uncorrected congenital GI tract malformation (e.g. Meckel’s).
- SCID (live attenuated).
Management of congenital umbilical hernia
Observe till age 5, surgery if persists at 5 years or if causes problems
Newborn cyanosis with left axis deviation and decreased pulmonary markings
Tricuspid atresia (requires both ASD and VSD to be compatible with life)
Metatarsus adductus vs. clubfoot
Metatarsus adductus: medial deviation of forefoot but normal hindfoot, flexible, requires only reassurance.
Clubfoot: medial/upward deviation of both forefoot and hindfoot, rigid, requires immediate serial manipulations and casting.
Neonate that gradually develops apathy, weakness, hypotonia, abdominal pain, an umbilical hernia, and a large tongue
Congenital hypothyroidism (most commonly due to thyroid dysgenesis, part of newborn screen)
Infant with inspiratory stridor only that is worse when supine?
Infant with both inspiratory and expiratory stridor that improves with neck extension?
Inspiratory only: Laryngomalacia (diagnose with direct laryngoscopy)
Inspiratory and expiratory: Vascular ring
Vascular compromise in shaken baby syndrome
Shearing of subdural veins (also see retinal hemorrhages)
Genetic disease associated with congenital lymphedema. Genetic cause?
Turner syndrome (45XO)
Aortic involvement in Turner syndrome
Aortic coarctation, aortic root dilation (risk of dissection), bicuspid AV
Genetic disease associated with atlantoaxial instability. Genetic cause?
Down syndrome (trisomy 21)
Genetic disease associated with clenched hands with overlapping fingers. Genetic cause?
Edward syndrome (trisomy 18) (Also seen: micrognathia, prominent occiput, low-set ears, limited hip abduction, rocker-bottom feet)
Loss of paternal copy of 15q11-13?
Maternal copy?
Paternal: Prader-Willi (polyphagia, obesity, hypotonia)
Maternal: Angelman syndrome (happy puppet)
Genetic disease associated with interrupted aortic arch and truncus arteriosus. Genetic cause?
DiGeorge syndrome (22q11 microdeletion) (CATCH-22: Cardiac abnormalities (also ASD/AVD), Abnormal facies, Thymic aplasia, Cleft palate, Hypoparathyroidism)
Genetic disease with delayed muscle relaxation, such as inability to relax after a handshake. Genetic cause?
Myotonic dystrophy (AD trinucleotide repeat)
Genetic disease with big baby with big tongue and hemihyperplasia?
What are they at risk for?
Beckwith-Wiedemann syndrome (usually a sporadic mutation). Screen for Wilm’s tumor and hepatoblastoma with US and AFP.
Marker elevated in 21-hydroxylase deficiency CAH
17-hydroxyprogesterone
Pure red cell aplasia with triphalangeal thumbs
Diamond-Blackfan anemia
Pancytopenia with absent thumbs
Fanconi anemia
Bilateral cataracts with FTT, jaundice, and hypoglycemia. Genetic cause?
Galactosemia. Mutation in galactose-1-phosphate uridyl transferase
(Galactokinase deficiency: cataracts only)
Marfanoid habitus with:
- Upward lens dislocation?
- Downward lens dislocation?
Upward: Marfan’s
Downward: Homocystinuria (look for intellectual disability and hypergoagulability)
Genetic disease with musty/mousy odor?
Phenylketonuria (also see intellectual disability, eczema, fair complection - part of newborn screen, complications prevented with low-phenylalanine diet)
Mutation in Lesch-Nyan
Hypoxanthine-guanine phosphoribosyl transferase (HPRT) (leads to hyperuricemia) (X-linked)
Genetic disease with fasting hypoglycemia and hypoglycemia seizures and lactic acidosis. Genetic cause?
Von Gierke disease (type 1 glycogen storage disease). Deficiency in glucose-6-phosphatase (will see hepatomegaly but no splenomegaly or heart involvement)
Name the disease and mutation:
Developmental regression and cherry-red macula with:
1. Hepatosplenomegaly and areflexia
2. No hepatosplenomegaly and hyperreflexia
Hepatosplenomegaly and areflexia: Niemann-Pick, sphingomyelinase deficiency (Pick your nose with your sphinger)
Hyperreflexia: Tay-Sachs, beta-hexosaminidase A deficiency
Raised, tan-colored harmatromas in the iris. Genetic cause?
Lisch nodules, seen in NF1 (also look for cafe-au-lait spots, clustered freckles, neurofibromas, optic gliomas)
Ash-leaf spots and shagreen patches
Tuberous sclerosis (also facial angiofibromas and hamartomas of many organs, e.g. renal angiomyolipoma)
Normal complement glomerulonephritis accompanied by hearing loss. Genetic cause?
Alport syndrome. X-linked mutation in type IV collagen
A kid is diagnosed with glomerulonephritis. What is a screening test you perform?
Hearing (for Alport syndrome)
What can be used to prevent RSV in very high-risk neonates?
Palivizumab (only for <29 weeks, chronic lung disease of prematurity, hemodynamically significant congenital heart disease)
Treatment for croup
Mild respiratory distress: corticosteroids
Moderate/severe respiratory distress: Nebulized epinephrine
Pertussis treatment
Azithromycin or other macrolide. Give to the patient and all close contacts, regardless of vaccination status.
When do you get a bladder ultrasound for a kid with UTI?
When do you get a VCUG?
US: Febrile UTI in a kid <2 yrs, or recurrent febrile UTIs
VCUG: Abnormal US (hydronephrosis, scarring), neonate (<1 mo), kid <2 yrs with recurrent UTIs, or UTI with organism other than E. coli
Treatment for severe measles
Vitamin A
Specific signs of congenital CMV
Periventricular calcifications
(Note that congenital Toxo leads to diffuse intracerebral calcifications)
(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).
Specific signs of congenital Toxo
Diffuse intracerebral calcifications, macrocephaly, severe chorioretinitis
(Note that congenital CMV leads to periventricular calcifications)
(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).
Specific signs of congenital rubella
Sensorineural deafness, cataracts, heart defects (e.g. PDA)
(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).
Specific signs of congenital syphilis
Snuffles (rhinorrhea), desquamating/bullous maculopapular rash, abnormal long-bone x-rays.
(May also see general signs of congenital infection: IUGR, hepatosplenomegaly, jaundice, blueberry muffin rash).
