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71 Cards in this Set
- Front
- Back
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Neurofibromatosis type 1:
Inheritance pattern? Presentation? Dx? |
- AD
- age 15, café au lait spots, axillary or groin freckling, Lisch nodules (pigmented iris hamartomas) - dx MRI |
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Neurofibromatosis type 2:
Inheritance pattern? Presentation? |
- AD
- age 20, bilateral acoustic neuromas |
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Tuberous Sclerosis:
Inheritance pattern? Presentation? |
- AD
- small tumors grow all over body (CNS, skin, heart, retina, kidneys) - Seizures, “ash-leaf” hypopigmented lesions on trunk - Sebaceous adenomas (red nodules on nose/cheeks shaped like butterfly) - Shagreen patch (papule in lumbosacral region w/ orange peel consistency) - retinal lesions, MR, rhabdomyoma |
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Gaucher’s Disease:
Cause? Population found in? Presentation? |
o genetic disorder deficiency of Glucocerebrosidase causing lack of acid beta-glucosidase
o MC lysosomal storage disease, found eastern European Jews o Glucosylceramide accumulates in liver, spleen, lungs, and causes pancytopenia, hepatosplenomegaly, and infiltrative pulmonary disease |
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Turners (45XO):
Presentation? RF for? |
o short stature, amenorrhea, wide nipples, coarctation of aorta
o increased risk for HTN o Amenorrhea secondary to ovarian failure (dysgenesis), FSH will be elevated |
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Friedreich’s Ataxia:
Presentation? Associated w/ what heart condition? |
o degenerative disease of dorsal columns, causing scoliosis and high plantar arches
o Associated with heart condition, MC cardiomyopathy |
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Cystic Fibrosis:
Inheritance pattern? Presentation? Cause? Dx? |
- AR
- recurrent respiratory infx’s, infertility - defect in Cl pump, lungs, pancreas and reproductive glands become clogged w/ thick secretions - Dx w/ sweat test showing increased Na and decreased Cl |
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Intussusception:
Presentation? Dx? Tx? |
o 3-18 months w/ abd pain, leg withdrawal, “currant jelly” stools, bilious vomiting
o Commonly large amounts of blood in stool after sudden abd pain o Water soluble contrast enema to Dx and therapeutic |
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Necrotizing Enterocolitis:
Radiologic Findings? Presenting Population? |
- pneumatosis intestinalis and few air in the bowel wall
- MC in preterm infants |
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Fetal hydantion syndrome:
Presentation? Cause? |
o growth retardation, microcephaly, hypoplasia of distal phalanx fingers and toes, cleft lip, hirsutism
o Caused by in-utero exposure to anticonvulsive therapy (MC phenytoin) |
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Developmental milestones:
6 months? 12 months? 2 years? 3 years? 4 years? 5 years? |
o 6 months: alert to sounds
o 12 months: say mama/dada to correct person o 2 years: using 2 word sentences, 200 word vocab o 3 years: using 3 word sentences o 4 years: know colors and some numbers o 5 years: be able to recite name, address, and phone number |
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In-utero exposure of what leads to tricuspid atresia?
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Lithium
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Dandy-walker malformation:
Cause? Presentation? |
o congenital brain malformation involving the cerebellum and fluid filled spaces around it, usually the absence of cerebellar vermis
o Slow motor dev, irritability, vomiting, convulsions, cerebellar dysfunction |
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MCC death by age group:
<1 year: 1-4 years: 5-9 years: 10-14 years: 15-24 years: |
o <1 year: suffocation, MV accident, drowning
o 1-4 years: MV accident, drowning, fire/burn o 5-9 years: MV accident, drowning, fire/burn o 10-14 years: MV accident, drowning o 15-24 years: MV accident, poisoning, drowning |
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Galactosemia:
Presentation? Cause? |
• Neonate w/ cataracts, hepatomegaly and Nausea
o Avoid dietary glucose, due to deficiency of galactose-1-phosphate uridyl transferase enzyme |
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Trisomy 13:
Presentation? |
Patau syndrome
- mental retardation, polydactyly, meningomyelocele, rocker-bottom feet, cleft palate, blindness - GI/Cardiac/Renal abnormalities |
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Trisomy 18:
Presentation? |
Edwards syndrome
- MR, microcephaly, small-jaw, rocker-bottom feet, widened eyes - GI/Cardiac/Renal abnormalities |
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Trisomy 21:
Presentation? |
Down syndrome
- flattened nose, semian crease, up-slanting eyes, delayed development |
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MC trisomy?
2nd MC? |
MC Trisomy 21
2nd MC Trisomy 18 |
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Presentation of neonate if mother was on Morphine during pregnancy?
Cause? |
- “high-pitched cry”, vomiting, convulsions, tachypnea, sweating, diarrhea
- Withdrawal in neonate |
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Paucarticular juvenile RA:
Presentation? RF factor present? |
o usual onset before 5 w/ painless limp
o Affects <4 joints w/ uveitis, iridocyclitis, or asymmetrical leg length o RA factor will be negative |
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Polyarticular juvenile RA vs Paucarticular juvenile RA?
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- Polyarticular >5 joints, Pauciarticular <5
- Pauciarticular MC |
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Fragile X syndrome:
Prevalence? Presentation? |
- MC INHERTED caused of MR
- presents w/ elongated face, large ears, hypotonia, and macroorchiism |
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Klumpke’s paralysis:
Cause? Presentation? |
- injury to C8-T1 nerves
- presents w/ paralysis of intrinsic muscles, Horners syndrome (from T1 parasympathetic innervation), and ulnar nerve numbness |
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Prader-Willi:
Presentation? Course of disease? |
floppy-baby syndrome
o hypotonia, poor feeding as infant, short stature, almond-shaped eyes o After 12 months, will develop hyperphagia and will become OBESE |
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Duodenal atresia vs. midgut volvulus:
Similarities and Differences? |
- duodenal atresia presents first few hours→2 weeks after birth
- midgut volvulus will present at least a few weeks out o Both have “double-bubble” sign, midgut volvulus will have “birds beak” on Xray |
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Infant conjunctivitis cause:
First 24 hours? |
chemical conjunctivitis from erythromycin drops
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Infant conjunctivitis:
2-7 days? Tx? |
Gonorrheal conjunctivitis, has purulent discharge
• tx w/ IM ceftriaxone |
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Infant conjunctivitis:
5-14 days? |
- chlamydial (inclusion) conjunctivitis
- mucopurulent discharge w/ palpebral erythema |
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Infant conjunctivitis:
6-14 days? |
- viral, MC HSV
- B/L lid edema and conjunctival erythema |
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Standard newborn screen includes checking for what 2 diseases?
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hypothyroidism and PKU
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Torsion of appendix testis:
Presentation? Tx? Common Population? |
o TTP, “blue-dot” sign
o Tx w/ pain control and scrotal support o MC acute scrotum in boy 7-14 |
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Fetal alcohol syndrome:
Presentation? |
MCC MR in children
- causes short palpebral fissures, epicanthal folds, long philtrum, thin upper lip |
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Cholesteatomas:
Presentation? Cause? |
o New-onset hearing loss w/ chronic ear drainage refractory to Abx therapy
o Granulation tissue or skin debris may be present within pockets of the TM o Can be congenital or acquired 2nd to chronic middle ear infx |
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Anemia Prematurity:
Common Population? Cause? |
o MCC anemia in Premature or low-birth weight babies
o Due to diminished RBC production and blood loss, NOT iron deficiency |
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Leukocyte Adhesion defect:
Presentation? |
o recurrent bacterial infections
o Delayed separation of umbilical cord and periodontal infx characteristic |
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Menignococcemia can lead to what complication?
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o Waterhouse-Friderichsen syndrome
o Sudden hypotension and petechial/purpuric lesions after meningeal signs |
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Slipped Capital Femoral Epiphysis (SCFE):
Common population? Presentation? Dx? |
• One of MC knee pain in OBESE
- adolescents is presents with knee pain and limited rotation of hip - Dx w/ X-ray |
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Legg-Calve-Perthes:
Common population? Presentation? Tx? |
- males 4-10
- avascular necrosis of femoral head o Hip, groin, knee (referred) pain w/ painful limp o Tx w/ splinting and decreased weight bearing |
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Rett Syndrome:
Presentation? Associated conditions? |
o loss of oral and motor skills after previous on schedule development, starts around 6-18 months
o Associated with seizure disorder, hypotonia |
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Tx for Radial head subluxation?
Presentation? |
o supination of forearm and flexion of elbow
o Classically children will hold arm slightly flexed and close to body |
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Croup:
Presentation? Cause? Radiologic Findings? |
- bark like cough, stridor, subglottic swelling,
- caused by Para influenza - “steeple sign” |
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Epiglottitis:
Presentation? Cause? Radiologic Findings? |
- dysphagia, muffled voice, drooling
- Haemophilus influenza - “thumbprint sign” |
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Potentially fatal complication of measles?
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Subacute Sclerosing Panencephalitis (SSPE)
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Imperforate Hymen:
Presentation? Dx? |
o bulging, blue domed, translucent membrane at level of vaginal introitus obstructing the urinary pathway
o pelvic US to Dx |
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MC obstructive anomaly of female genital tract?
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Imperforate Hymen
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MC finding in child abuse?
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skin bruises and cuts
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see respiratory compromise in Scoliosis at what degree?
Cardiovascular compromise? |
- respiratory compromise w/ >50 degree curvature
- cardiovascular effect >75 degrees |
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Unilateral bloody nasal discharge w/ a foul smell, cause?
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foreign body
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Can a baby breast feed if mother has Varicella-Zoster?
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yes as long as it isn't on the breast
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Tx course for possible rabies exposure if previously vaccinated?
No previous vaccination? |
o Previous vaccination: thorough cleaning and rabies vaccination
o No vaccination: human rabies Immunoglobulin (HrIG), rabies vaccination and thorough cleaning |
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Sarcoma Botryoides:
Presentation? Type of tissue? Dx? |
• Grape-like clusters protruding from 2 year-old vagina
o type of rhabdomyosarcoma o Evaluate with pelvic US |
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MCC neonatal sepsis?
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Group B Strep
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Pyloric Stenosis:
Presentation? Dx? Tx? |
o projectile emesis palpable olive-shaped mass
o Dx w/ abd US o Tx w/ pyloromyotomy (longitudinal incision in hypertrophied muscle) |
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What drug can increase the incidence of Pyloric Stenosis?
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o Macrolide abx carry an increased risk if used within first 2 weeks of life
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Developmental dysplasia of the hip:
Cause? Presentation? Dx? Tx? |
o due to ligamentous laxity
o child begins walking funny, asymmetry of hip abduction o Dx w/ hip US o If pt has +Ortolani and Barlow signs at 2 weeks, can Tx w/ pavlik harness |
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MC child meningitis?
0-3 months? 3 months-9 years? 9-18 years? |
o 0-3 months: GBS
o 3 months-9 years: S. Pneumonia o 9-18 years: N. Meningitis |
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Tay-Sachs:
Presentation? Common population? |
- cherry red spot, loss of motor skills, neuro defects
- Jewish descent |
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Tay-Sachs vs. Neimmen-Pick disease?
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same, but Neimmen-Pick also involves LIVER
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Is Gynecomastia in pubertal males worrisome?
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can be watched, most spontaneously resolve
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Cleft lip w/ NO palate involvement:
Tx? |
surgical repair by 3 months age
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Cleft lip w/ palate involvement:
Tx? |
special feeding nipple w/ surgical repair after 6 months
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Childhood disintegrative DO:
Presentation? |
- rare developmental DO in males, normal development until 2 years then loss of previously acquired skills
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Cerebral Palsy:
Presenation? MCC? |
- Hypotonia, hyperactive DTR, learning disability, low APGAR scores
- MCC is Cerebral Anoxia |
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Children w/ Downs are at an increased risk for what other disease?
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- Duodenal atresia
- Hirschsprung’s disease - endocardial cushion defects - acute Leukemias |
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Kertagener’s Syndrome triad? Cause?
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- Recurrent sinusitis, bronchiectasis, and SITUS INVERSUS
- Due to primary ciliary dyskinesia |
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Newborn w/ cyanosis that is aggravated by feeding and relieved by crying?
Dx? Tx? |
- Choanal Atresia
- Dx w/ attempt to pass catheter through nose, confirmed w/ CT - Tx w/ surgical correction |
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Pre-term infants w/ respiratory distress and hypoxia that does not respond to O2 therapy have what?
Cause? Radiologic Finding? Tx? |
- Hyaline Membrane Disease
- Due to decreased production and secretion of Surfactant - CXR fine reticular granularity of lung parenchyma - Tx w/ Ventilatory and surfactant administration |
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MC type of childhood Strabismus and Tx?
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- Esodeviation (Medial deviation of the eye)
- Tx w/ covering of good eye |
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Young Pt presents w/ Marfans, MR, Throboembolic events, and downward dislocation of lens?
Cause? |
- Homocystinuria
- Caused by Cystathionine synthase deficiency |
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Adolescent presents w/ epistaxis, localized mass, and bone erosion in back of the nose?
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Angiofibroma
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