PREP Flashcards
Adolescent with imbalance, tinnitus, hearing loss
Vestibular schwannoma, NF2 (autosomal dominant)
meningiomas, ependymomas, astrocytomas, schwannomas of other cranial and peripheral nerves, mononeuropathy, and posterior subcapsular lens opacities
NF2
Posterior subcapsular lens opacity
a unique ocular finding that can be the first sign of neurofibromatosis type 2 in childhood
male taller than normal stature, speech and language delay, cystic acne in adolescence, lack of facial dysmorphology, and learning disabilities but normal intelligence
47,XYY syndrome
female tall stature, learning disabilities, and speech/language delay, but typically have normal intelligence, sexual development, and fertility
47,XXX syndrome, also known as triple X syndrome
congenital heart disease, palatal abnormalities, characteristic facial dysmorphology, learning difficulties, renal anomalies, and immune deficiency. hypocalcemia in 17% to 60% of patients and thyroid dysfunction
22q11.2 deletion syndrome, also known as velocardiofacial syndrome or DiGeorge syndrome
coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies
CHARGE syndrome
Huntington disease, fragile X syndrome, and myotonic dystrophy
Types of trinucleotide repeat disorders
Neurofibromatosis type 2, neurofibromatosis type 1, and tuberous sclerosis, what inheritance type?
neurocutaneous disorders with autosomal dominant inheritance
microcephaly, microphthalmia, low-set ears, cleft lip and/or palate, holoprosencephaly, cutis aplasia, polydactyly, clenched hands, rocker bottom feet, cryptorchidism, renal anomalies, and cardiac malformations
Trisomy 13
Young male children who have a history of nontraumatic severe bleeding should be evaluated for
factor VIII and IX deficiencies
girl in this vignette has an unremarkable medical and developmental history, pallor and tachycardia, a severe, normocytic anemia, absolute reticulocytopenia, and a normal white blood cell count, differential, and platelet count
Transient erythroblastopenia of childhood is an idiopathic, self-limiting disease that should be followed by serial complete blood cell counts and reticulocyte counts
neonate with absent radius
may need platelet transfusions, Thrombocytopenia with absent radius syndrome
Children with isolated fractures to the paranasal sinuses should be treated with
1-week course of antibiotics and oral analgesics. “Sinus precautions” should be implemented for patients with paranasal sinus fractures. These include avoidance of nose blowing, swimming, straw use, and playing wind instruments. follow up 1 week later with an otolaryngologist
Patients with persistent otorrhea and/or a white mass behind the tympanic membrane
referred to an otolaryngologist for further evaluation and management. Most cholesteatomas require surgical treatment.
severe sore throat (sometimes unilateral), fever, a muffled or “hot potato” voice, trismus, and odynophagia. They typically have a swollen tonsil or swelling of the adjacent soft palate as well as deviation of the uvula to the opposite side
Needle aspiration of a peritonsillar abscess is both diagnostic and therapeutic.
children with persistent purulent and/or foul-smelling nasal discharge (especially when unilateral) and malodorous breath. Tx?
Use of a topical vasoconstricting agent, such as neosynephrine or oxymetazoline, is generally recommended before any attempt is made to remove a nasal foreign body. These agents decrease localized swelling (which improves the chances of successful foreign body removal) and decrease bleeding.
ocular abnormalities (myopia, cataracts, and/or retinal detachment), midface abnormalities (flattened midface, depressed nasal bridge, short nose, anteverted nares, micrognathia, and cleft palate), hearing loss, and joint hypermobility
Stickler syndrome
12 yo healthy, first seizure, all labs (including UTox) nl, nl neuro exam, what order at PCP f/u? EEG, EKG, CT, MRI?
EEG next (background epilepsy but also if focal, then brain imaging). Only start with brain imaging if focal seizure or abnl neuro exam (likely CT first b/c acute)
6 mo, lethargic in am, hypoglycemia with ketones?
Glycogen storage disease (fatty acid oxidation disorder would have hypoglycemia without ketones. organic acid disorders are neonatal. mitochondrial is lactic acidosis and hypotonia, ragged red fibers on muscle biopsy)
Neonate IUGR and SGA, She has a small jaw, clenched hands with overlapping fingers, rocker-bottom feet, a short sternum, and hypoplastic nails. Echocardiography shows a ventricular septal defect. Renal ultrasonography shows a horseshoe kidney. Dx?
Trisomy 18 (Edward). IUGR, SGA, heart, kidney in neonates with trisomy 13 or trisomy 18. trisomy 13 also have a scalp defect called “cutis aplasia” and midline defects such as holoprosencephaly, cleft lip, cleft palate. Clenched hands with overlapping fingers and rocker-bottom feet can be seen in trisomy 13, but they are more common in trisomy 18. Trisomy 18 is characterized by distinctive dysmorphic features: clenched hands with overlapping fingers, rocker-bottom feet, and short sternum. Trisomy 13 is characterized by midline and scalp defects and rocker-bottom feet.
16 yo prev healthy F, 2 days fatigue, pallor, dyspnea. Hb 4, retic 13, nucleated RBCs present, LDH elevated, bili elevated, direct antibody test IgG positive. Spleen tip palpated. Tx? Methylprednisolone, normal saline, rasburicase, pRBCs?
Steroids. Acute hemolytic anemia. Her unremarkable personal medical history suggests that she does not have a heritable hemolytic disorder, and the positive direct antibody test finding for IgG is diagnostic of a warm antibody-mediated autoimmune hemolytic anemia (AIHA). Whereas AIHA can be associated with medications, the girl in the vignette has an unremarkable medical history, suggesting that she has idiopathic AIHA. (NS dilute further, rasburicase for TLS, RBCs only if end organ b/c will just hemolyze)
34 week, mom febrile, baby resp distress, streaky CXR, green amniotic fluid. What bug?
Listeria (GBS often reticulogranular CXR. green fluid classic listeria. Chlamydia later. E coli bloodstream sepsis).
testicular torsion based on history and physical. US or consult uro?
Consult Uro (emergency!)
2 yo croup, stridor and retractions with activity only, day 2, symptoms worsening. Dex or supportive care?
Dex! Because early in course and worsening even though no stridor at rest
Delayed puberty? Breast, testicular, menarche?
No breast at 13 yo, no testicular growth (4 ml, 2.5 cm) at 14, no menarche at 15
11 mo exposed to Hep A at daycare 2.5 weeks ago?
No prophylaxis given >2 weeks ago (if <14 days, give Hep A vaccine to >12 mo or immune globulin to <12 mo)
Knock knees. What age and supine intermalleolar measurement cut off to do xrays?
If at least 7 yo and intermalleolar 8cm or greater
Infective endocarditis. Most likely pathogen?
Staph aureus
Head banging 5yo boy normal?
No, should resolve by age 4. Eval for developmental disability (autism, ID).
Acne inflammatory papules and blackheads treatment?
Benzaclin (inflammatory) AND retinoid (follicular blockage)
15 yo itchy, tender, pink area of hair loss (smooth skin w/o broken hairs in one area)?
linear scleroderma (alopecia areata smooth plus broken or exclamation point hairs. tinea has black dots. trichotillomania patchy)
SGA newborn, hypoglycemia at 18 hours cause?
Decreased glycogen stores (because growth restricted)
Post burn nutrition? Higher or lower? which vitamins?
More calories than normal. Vit A and C and zinc for wound healing
neutropenic cancer patient, nodular appearance on CT?
Aspergillus, NOT PJP (ground glass)
Prader Willi. treat with glucocorticosteroids or growth hormone in first year of life?
GH
LSD, at risk for what?
serotonin toxicity. NO physical dependence/withdrawal/addiction
tumor lysis syndrome. which direction phosphorus, potassium, calcium, uric acid?
high, high, low (hypocalcemia because binds to phosphorus spilled from cells), high
teen, chronic cough, fatigue, weight loss, hilar adenopathy, restrictive lung disease, elbow nodules?
sarcoidosis (can bx nodules - noncaseating granulomas)
Difference between:
benign focal epilepsy of childhood
juvenile absence epilepsy
juvenile myoclonic epilepsy
progressive myoclonic epilepsy
-benign focal epilepsy of childhood- most common childhood epilepsy. during sleep unilateral facial twitching, orofacial paresthesias, and speech arrest, with preservation of consciousness. It typically presents between 5 and 10 years of age and resolves by adolescence.
-juvenile absence epilepsy - absence only
-juvenile myoclonic epilepsy - early adolescence with myoclonus, generalized tonic-clonic, and/or absence seizures; seizures often occur in the morning. provoked by sleep deprivation, photic stimulation, alcohol consumption, or stress.
-progressive myoclonic epilepsy - rare genetic, supportive care. myoclonic, generalized tonic-clonic seizures and accompanying progressive neurodegeneration. Clinical findings include cognitive decline, ataxia, neuropathies, and myopathies
CAG repeats in HTT
CGG repeats in FMR1
CTG repeats in DMPK
GAA repeats in FXN
Huntington Disease
Fragile X
Type 1 myotonic dystrophy
Friederich Ataxia
What repeat Fragile X?
CGG (See G G, macroorchidism)
case-control study
cohort study
cross-sectional study
randomized controlled trial
Which most likely to yield valid info about: benefits and harms of intervention, prognosis of a condition, accuracy of diagnostic test?
RCT, cohort, cross-sectional
febrile neonate, meningitis, CSF smear with green rods in twos. What bug and antibiotic?
Listeria (gram positive rods), ampicillin
Side effects of ketogenic diet (3)?
GI (constipation), hyperlipidemia, kidney stones
16 yo sex traffic (sex for jewelry). who contact?
national sex hotline (not parents or law or DCF)
football tackle, spleen injury, BP nl, which imaging? (XR, CT, MRI, US)
CT b/c hemodynamically stable (US otherwise)
what kind of JIA has uveitis? (oligoarticular, polyarticular, systemic onset, enthesitis related)
oligoarticular, especially when ANA positive (most of the time)
PFAPA
periodic fevers (4-5d q month), aphthous stomatitis, pharyngitis, adenopathy. T&A works! steroids work but increase attack frequency and severity
newborn white forelock. what syndrome? what GI complication?
Waardenburg syndrome is characterized by a prominent white forelock, wide nasal bridge, sensorineural deafness, heterochromia iridis, and in some types, lateral displacement of the inner canthi.
Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) is always associated with Hirschsprung disease.
Risk factors for postconcussive syndrome (>3 mo sx)?
Risk factors for postconcussive syndrome include severe initial symptom burden or delayed onset; loss of consciousness for more than 1 minute at the time of injury; vestibular symptoms; and preinjury history of psychiatric disorders, migraine headache, learning disorder, or repeated concussions.
best EBM question has what?
The four elements of a PICO question are patient problem or population, intervention, comparison group, and outcome measure.
neonate microcephaly, cataracts, sensorineural deafness, peripheral pulmonic stenosis, and radiolucent bone lesions?
Rubella
neonate hydrocephalus, chorioretinitis, and cerebral calcifications?
toxoplasmosis
neonate snuffles, mucocutaneous lesions, osteochondritis, pseudoparalysis, hepatosplenomegaly, and lymphadenopathy?
syphilis
Stage 2 HTN, sports restrictions?
Do aerobic low-intensity only (until under better control). Contact vs non contact doesn’t matter. But high intensity can make BP worse.