Science Quiz / Rapid Review Step1 Classic Presentations

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Can you name the Rapid Review Step1 Classic Presentations

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PresentationDiagnosis/DiseaseBonus Info
red currant jelly sputum in alcoholics/diabeticslook for aspiration pneumo/abscesses
Cough, Coryza, Conjunctivitis, fever, diffuse rashCaused by morbillivirus
sudden swollen painful big toe joint, tophipodagra, hyperuricemia
systolic crescendo decrescendo ejection murmurradiates to carotids!
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerancelysosomal alpha 1,4-glucosidase deficiency
arachynodactyly, lens dislocation, aortic dissection, hyperflexible jointsDefect in Fibrillin
Fever, night sweats, weight loss'B symptoms' of lymphoma
chorea, dementia, degeneration of caudate nucleusautosomal dominant CAG repeat expansion
Cold intolerancelook too for dry skin, weight gain, etc.
severe jaundice in neonatecongenital unconjugated hyperbilirubinemia
short stature, increased tumors/leukemias, aplastic anemiagenetic loss of DNA crosslink repair, look for AML
chest pain on exertionstable with moderate/high exertion, unstable with minimal exertion
child uses arms to stand up from squatDMD
skin hyperpigmentation, hypotension, fatigueprimary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
splinter hemorrhages in fingernails
chronic exercise intolerance, with myalgia, fatigue, painful cramps, myoglobinuriaMuscle glycogen Phosphorylase Deficiency
lo lactation postpartum, absent menstruation, cold intolerancepituitary infarction
unilateral facial drooping involving forheadLOWER MN CN7 palsy
ptosis, miosis, anhidrosissympathetic chain lesion
erythroderma, Lymphadenopathy, HSM, atypical T cellsCutaneous T cell lymphoma. Could be also mycosis fungoides
conjugate lateral gase palsy, horizontal diplopiaDamaged MLF, if bilateral dx MS, unilateral look for stroke
café-au-lait spots, lisch nodules (iris hamartomas)Type 1!!! Can also produce pheochromocytomas, optic gliomas
bilateral Renal Cell Carcinoma, hemangioblastomas, angiomatosis, pheochromocytomadominant tumor suppresssor gene mutation
Infant with FTT, HSM, neurodegenerationgenetic sphingomyelinase deficiency
hyporeflexia, hypotonia, atrophy, fasciculationslower motor neuron damage
muffled heart sounds, distended neck veins, hypotension'Beck's Triad'
large bulls eye rashLyme disease, borrelia burgdoreri. Remember it's the Ixodes tick bite
indurated, ulcerated genital lesion: NOT PAINFULPrimary form, secondary to treponema pallidum
periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemiacheck 24 hour protein excretion
smooth, flat, moist, painless white lesions on genitalssecondary syphilis
small, irregular red spots on buccal/lingual mucosa with blue-white centersmeasles, rubeola
pupil accomodates but doesn't reactneurosyphillis
positive anterior drawer signanterior cruciate ligament
buish line on gingivalead poisoning
severe RLQ pain with palpation LLQAccute Appendicitis
bounding pulses, diastolic murmur, head bobbing
dermatitis, dementia, diarrhea (death)Niacin deficiency (B3)
streak ovaries, gongenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedemamonosomy X
vomitting blood following gastroesophagela lacerationsAlcoholics, bulemics
PresentationDiagnosis/DiseaseBonus Info
bilateral hilar adenopathy, uveitisNoncaseating granulomas.
lucid interval after traumatic brain injuryMMA rupture
hamartomatous GI polyps, hyperpigmented mouth/feet/handsinherited benign polyposis, can lead to bowel obstruction, increased cancer risk but mainly GI
hypoxemia, polycythemia, hypercapniaChronic bronchitis from hyperplasia of mucous cells, COPD
fever, chills, headache, myalgia following antibiotic tx for symphilissecondary to rapid lysis of spirochetes leading to toxin release
Adrenal hemorrhage, hypotension, DICmeningococcemia
thyroid and parathyroid tumors, pheoautosomal dominant ret mutation
swollen, hard painful finger jointsPIP osteophytes are Bouchard's, DIP are Heberden's
green-yellow rings around peripheral corenacopper buildup from WILSON'S DISEASE
Urethritis, conjunctivitis, arthritis in a maleoften associated with HLA-B27
red currant jelly stool- ADULT
Achilles tendon xanthomasecondary to decreased LDL receptor signaling
male child, recurrent bacterial infections, no mature B cellsX-linked agammaglobulinemia aka Bruton's disease
dog/cat bite leading to infectionPasteurella Multocida has cellulitis at innoculation site
HSM, osteoporosis, neuro symptomsGlucocerebrosidase deficiency
infant with hypoglycemia, FTT, hepatomegalydebranching enzyme deficiency
abdominal pain, ascites, hepatomegalyposthepatic venous thrombosis
red urine in morning, fragile RBCs
rash on palms and solesHand foot mouth OR secondary syphilis, RMSF
Dilated cardiomyopathy, edema, alcohol/malnutritionthiamine B1 deficiency
continuous machinery heart murmurclsoe with indomethacin, keep open with PGE/misoprostol
fever greater than 5 days, strawberry tongue, cervical LAD, nonexudative conjunctivitis, sterile pyuria
pink complexion, dyspnea, hyperventilationemphysema. If it's centriacinar go with smoking, panacinar go with alpha1antitrypsin deficiency
cutaneous/dermal edema from connective tissue depositionthink autoimmune thyroid dysfunction, especially if pretibial
pancreatic, pituitary, parathyroid tumorsAutosomal dominant
nystagmus, intention tremor, scanning speech, bilateral INOMultiple lesions separated by both time and space
dysphagia (esophageal webs), glossitis, iron deficiency anemiaCan proceed to esophageal SCC
butterfly facial rash, raynaud's phenomenon, young femaleLUPUS! Malar rash, and pretty much whatever
gout, MR, self-mutilationHGPRT deficiency, x-linked recessive
multiple colon polyps, osteomas, soft tisssue tumors, impacted/supernumerary teethsubtype of FAP
Blue Scleratype 1 collagen defect
red currant jelly stool- INFANT
polyuria, RTA type 2, growth failure, electrolyte imbalances, hypophosphatemic ricketsproximal tubular rebasorption defect
painless, erythematous lesions on palms/solesinfective endocarditis, septic emboli, microabscesses
mucosal bleeding, prolonged bleeding timedefect in platelet aggregation due to lack of GpIIb/IIIa
elastic skin, hypermobile jointsType 3 collagen defect
café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalitiesmosaic G prptein signaling mutation
Cherry Red Spot on maculaTay sachs- ganglioside accumulation. Neimann Pick (sphingomyelin), OR even central retinal artery occlusion
fibrous plaques in soft tissue of penisConnective tissue disorder
oscillating slow/fast breathingSecondary to central increase in antracranial pressure, or central apnea in CHF
PresentationDiagnosis/DiseaseBonus Info
Female, fat, forty, fertilegallstones
deep labored breathing/hyperventialtionDKA
chest pain, pericardial effusion/friction rub, persistent fever POST MI 1-2 weeksautoimmune mediated post-MI fibrinous pericarditis
indurated, ulcerated genital lesion: PAINFULExudative, secondary to Chancroid caused by Haemophilus Ducrei
hyperreflexia, hypertonia, babinski positiveupper motor neuron damage
infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasiaTrisomy 13
bone pain, bone enlargement, arthritisOF BONE. Secondary to increased osteoblastic and osteoclastic activity
hereditary nephritis, sensorineural hearing loss, cataractsmutation in alpha chain of type 4 collagen
Painless jaundicehead of pancreas tumor blocking bile duct
pruritic purple polygonal planar papules and plaques6 P's
weight loss, diarrhea, arthritis, fever, adenopathysecondary to Tropheryma whipplei
resting tremor, rigidity, akinesia, postural instability, mask faciesnigrostriatal dopamine depletion
vascular birthmark ('port wine stain')benign hemangioma on own, but don't forget it's association!
slow progressive muscle weakness in boysxlinked missense mutation in dystrophin, less severe than DMD
thyroid tumors, pheochromocytoma, ganglioneuromatosisautosomal dominant ret mutation
palpable purpura on buttocks/legs, joint pain, abdominal pain (kid), hematuriaIgA vasculitis mostly affecting skin/kidneys
recurrent colds, unusual eczema, high serum IgEHyper IgE syndrome, neutrophil chemotaxis abnormality
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defectTrisomy 18
back pain, fever, night sweats, weight lossTuberculosis spread to the vertebra
hyperphagia, hypersexualtiy, hyperorality, hyperdocilitysyndrome secondary to bilateral amygdala lesion
painful, pale cold fingers/toesraynaud's phenomenon (vasospasm in extremities)
Calf Pseudohypertrophyx-linked rkecessive deletion of dystrophin gene
elarged, hard left supraclavicular nodeabdominal metastasis
strawberry tongueOr Kawasaki, toxic shock syndrome
swollen gums, mucosal bleeding, poor wound healing, spots on skinvit C deficiency, can't hydroxyate proline/lysine for collagen synthesis
Neonate, arm paralysis following difficult birthErb Duchenne palsy from superior trunk C5-C6 brachial plexus injury ('waiter's tip')
single palmar creaseDOWN'S
facial muscle spasm on tappinghypocalcemia
rapidly progressive ascending leg weakness post GI or upper respiratory infectionacute autoimmune inflammatory demyelinating polyneuropathy
Child with fever later gets red rash on face spreads to body'Fifth disease'/erythema infectiousum. 'slapped cheeks'
painful red raised lesions on pads of fingers/toesinfective endocarditis, immune complex deposition
Severe RLQ with reboundappendicitis
red itchy swollen areola/nipplelook for underlying carcinoma
painful blue fingers/toes, hemolytic anemiaautoimmune hemolytic anemia secondary to mycoplasma or infectious mono
Jaundice, palpable distended but nontender gallbladderDistal obstruction of biliary tree, most classically secondary to tumor in head of pancreas
Athlete with polycythemiaWho knew! Apparently this is a thing.
retinal hemorrhages with pale centersbacterial endocarditis
'worst headache of my life' thunderclap headacheCT, if negative do LP to look for blood
dark purple skin/mouth nodulesThink AIDS patients, associated with HHV8
situs inversus, chronic sinusitis, bronchiectasis, infertilitydynein arm defect affecting cilia

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