First Aid Classic Presentations Flashcards by Lauren Sophiea

gout, intellectual disability, self mutilating behavior in a boy

dx?

deficient?

inheritence?

Lesch-Nyhan syndrome

HGPRT deficiency, X linked recessive

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situs inversus, chronic sinusitis, bronchiectasis, infertility

dx?

defect?

Kartagener syndrome

dynein arm defect affecting cilia

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blue sclera

dx?

defect?

osteogenesis imperfecta

type I collagen defect

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elastic skin, hypermobility of joints, increased bleeding tendency

dx?

defect?

Ehler’s Danlos syndrome

type V collagen defect; type III collagen defect seen in vascular subtype of ED

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arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints

dx?

defect?

Marfan syndrome

fibrillin defect

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cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

dx?

defect?

McCune-Albright syndrome

mosaic G-protein signaling mutation

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Calf pseudohypertrophy

dx?

defect?

Muscular dystrophy

MC Duchenne, due to X linked recessive frameshift mutation of dystrophin gene

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Child uses arms to stand up from squat

dx?

what is this called?

Duchenne muscular dystrophy

Gowers sign

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slow, progressive muscle weakness in boys

dx?

defect?

Becker muscular dystrophy

X linked missense mutation in dystrophin

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Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

dx?

defect?

Patau syndrome (trisomy 13)

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infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

dx?

defect?

Edward syndrome

trisomy 18

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single palmar crease

dx?

down syndrome

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dilated cardiomyopathy, edema, alcoholism or malnutrition

dx?

deficiency?

Wet beriberi

thiamine (B1) deficiency

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dermatitis, dementia, diarrhea

dx?

defect?

Pellagra

niacin (B3) deficiency

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swollen gums, mucosal bleeding, poor wound healing, petechiae

dx?

deficiency?

Scurvy

vit C, can’t hydroxylate proline/lysine for collagen synthesis

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chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

dx?

deficiency?

McArdle Disease

skeletal muscle glycogen phosphorylase deficiency

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infant with hypoglycemia, hepatomegaly

dx?

deficiency?

hint: 2 possible

Cori disease - debranching enzyme deficiency

Von Gierke disease - glucose-6-phosphatase deficiency, more severe

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myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

dx?

deficiency?

Pompe disease

lysosomal alpha-1, 4-glucosidase deficiency

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cherry red spots on macula

dx?

what causes this?

(hint: 2 possibilities)

Tay-Sachs (ganglioside accumulation)

Niemann-Pick (sphingomyelin accumulation)

central retinal artery occlusion

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hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

dx?

deficiency?

Gaucher disease

glucocerebrosidease deficiency

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Achilles tendon xanthoma

dx?

due to?

familial hypercholesterolemia

decreased LDL receptor signaling

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anaphylaxis following blood transfusion

dx?

IgA deficiency

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male child, recurrent infections, no mature B cells

dx?

inheritence?

Bruton disease

X linked agammaglobulinemia

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recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

dx?

what?

Hyper-IgE syndrome/Job Syndrome

neutrophil chemotaxis abnormality

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"strawberry tongue" dx? (2)

scarlet fever kawasaki disease

adrenal hemorrhage, hypotension, DIC dx? what?

Waterhouse-Friderichsen syndrome meningococcemia

red, "currant jelly" sputum in alcoholic or diabetic pt dx?

Klebsiella pneumoniae pna

large rash with bull's eye appearance called what? vector? dx? pathogen?

erythema chronicum migrans Ixodes tick Lyme disease Borrelia burgdorferi

indurated, ulcerated genital lesion ddx?

nonpainful: chancre - primary syphilis, treponema pallidum painful, with exudate: chancroid - Haemophilus ducreyi

pupil accomodates but doesn't react dx? what is this called?

neurosyphilis Argyll Robertson pupil

smooth, moist, painless, wart-like lesions on genitals dx?

condylomata lata (secondary syphilis)

fever, chills, HA, myalgia following abx tx for syphilis dx?

Jarisch-Herxheimer reaction rapid lysis of spirochetes results in endotoxin-like release

dog or cat bite resulting in infection etiologic agent? dx?

pasteurella multocida cellulitis at inoculation site

rash on palms and soles ddx?

coxsackie A secondary syphilis RMSF

Black eschar on face of patient with diabetic ketoacidosis pathogen?

mucor or rhizopus fungal infection

chorioretinitis, hydrocephalus, intracranial calcifications dx?

congenital toxoplasmosis

fever, cough, conjunctivitis, coryza, diffuse rash dx?

measles

small, irregular red spots on buccal/lingual mucosa with blue-white centers what? dx? pathogen?

koplik spots measles rubeola virus

back pain, fever, night sweats dx?

Pott disease (vertebral TB)

child with fever later develops red rash on face that spreads to body dx? etiologic agent?

Erythema infectiosum/Fifth disease "slapped cheek" appearance parvovirus B19

abdominal pain, diarrhea, leukocytosis, recent abx use dx?

clostridium difficle infection

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

aortic regurgitation

systolic ejection murmur (crescendo-decrescendo)

aortic stenosis

continuous "machine like" heart murmur

PDA close with indomethacin keep open with PGE analogs

chest pain with ST depression on EKG ddx?

angina if trop neg NSTEMI if trop positive

chest pain, pericardial effusion/friction rub, persistent fever following MI dx? what and when?

Dressler syndrome autoimmune mediated post-MI fibrinous pericarditis 2 weeks to several months after acute episode

painful, raised red lesions on pads of fingers/toes what is this? ddx?

osler nodes infective endocarditis, immune complex deposition

painless erythematous lesions on palms and soles what? ddx?

Janeway lesions infective endocarditis, septic emboli/microabscesses

splinter hemorrhages in fingernails dx?

bacterial endocarditis

retinal hemorrhages with pale centers what? dx?

roth spots bacterial endocarditis

distant heart sounds, distended neck veins, hypotension

beck triad of cardiac tamponade

cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae, and tongue, hand-foot changes dx? tx?

Kawasaki disease IVIG and aspirin

palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria dx? what?

henoch-schonlein purpura IgA vasculitis affecting skin and kidneys

telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria dx?

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

skin hyperpigmentation, hypotension, fatigue dx? what does this cause?

primary adrenocortical insufficiency (Addison disease) increase ACTH and increase alpha-MSH production

cold intolerance dx?

hypothyroidism

cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue dx?

myxedema (caused by hypothyroidism, Graves disease (pretibial))

facial muscle spasm upon tapping what sign? means?

Chvostek sing hypocalcemia

no lactation postpartum, absent menstruation, cold intolerance dx? what?

Sheehan syndrome postpartum hemorrhage leading to pituitary infarction

deep labored breathing/hyperventilation

DKA (kussmaul respirations)

cutaneous flushing, diarrhea, bronchospasm dx? what?

carcinoid syndrome R sided cardiac valvular lesions, increase 5-HIAA

pancreatic, pituitary, parathyroid tumors genetics?

MEN 1 (autosomal dominant)

thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus dx? genetics?

MEN 2B (autosomal dominant RET mutation)

thyroid and parathyroid tumors, pheochromacytoma dx? genetics?

MEN 2A autosomal dominant RET mutation

jaundice, palpable distended non-tender gallbladder sign? what does this mean?

Courvoisier sign distal malignant obstruction of biliary tree

painless jaundice dx?

cancer of the pancreatic head obstructing the bile duct

dysphagia (esophogeal webs), glossitis, iron deficiency anemia dx? could progress to?

Plummer-Vinson syndrome may progress to esophogeal squamous cell carcinoma

enlarged, hard left supraclavicular node What is it called? what does it mean?

Virchow node abdominal metastasis

weight loss, diarrhea, arthritis, fever, adenopathy dx? pathogen?

Whipple disease Tropheryma whipplei

hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia dx? risks?

Peutz-Jeghers syndrome inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth dx?

Gardner syndrome (subtype of FAP)

Abdominal pain, ascites, hepatomegaly dx?

Budd-Chiari syndrome (posthepatic venous thrombosis)

severe jaundice in neonate dx?

Crigler-Najjar syndrome congenital unconjugated hyperbilirubinemia

fat, female, forty, fertile, familial dx?

cholelithiasis

short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia dx? genetic change? progress to?

Fanconi anemia genetic loss of DNA crosslink repair; often progresses to AML

red urine in the morning, fragile RBCs dx?

paroxysmal nocturnal hemoglobinuria

painful blue fingers/toes, hemolytic anemia dx? caused by?

cold agglutinin disease autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL

mucosal bleeding and prolonged bleeding time dx? genetics?

Glanzmann thrombasthenia defect in platelet aggregation due to lack of GpIIb/IIIa

fever, night sweats, weight loss what?

B symptoms of lymphoma

erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells ddx?

mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)

WBCs that look 'smudged' dx?

CLL

athlete with polycythemia

secondary to erythropoietin injection

neonate with arm paralysis following difficult birth, arm in "waiter's tip" position dx?

Erb-Duchenne palsy superior trunk (C5-C6) brachial plexus injury

bone pain, bone enlargement, arthritis dx? how?

Paget disease of bone increase osteoblastic and osteoclastic activity

swollen, hard, painful finger joints in an elderly individual, pain worse with activity dx? called?

osteoarthritis osteophytes on PIP (Bouchard nodes), on DIP (Heberden nodes)

sudden swollen/painful big toe joint, tophi dx?

gout/podagra hyperuricemia

dry eyes, dry mouth, arthritis dx? what?

Sjogren syndrome autoimmune destruction of exocrine glands

urethritis, conjunctivitis, arthritis in a male dx?

reactive arthritis a/w HLA-B27

anticentromere antibodies dx?

Scleroderma (CREST)

dark purple skin/mouth nodules in pt with AIDS dx?

kaposi sarcoma, a/w HHV-8

anti-desmoglein (anti-desmosome) antibodies dx?

pemphigus vulgaris (blistering)

pruritic, purple, polygonal planar papules and plaques dx?

Lichen planus

increase AFP in amniotic fluid/maternal serum ddx?

dating error, anencephaly, spina bifida (open neural tube defects)

toe extension/fanning upon plantar scrape called? means?

Babinski sign (UMN lesion)

hyperphagia, hypersexuality, hyperorality, hyperdocility dx? what?

Kluver-Bucy syndrome bilateral amygdala lesion

lucid interval after TBI dx?

epidural hematoma middle meningeal artery rupture

chorea, dementia, caudate degeneration dx? genetics?

Huntington disease autosomal dominany CAG repeat expansion

nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia dx?

rapidly progressive limb weakness that ascends following GI/URI dx?

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas dx?

neurofibromatosis type 1

vascular birth mark (port-wine stain) of the face dx? what?

nevus flammeus benign, but a/w Sturge-Weber syndrome

renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma dx? genetics?

von Hippel-Lindau disease dominant tumor suppressor gene mutation

bilateral acoustic schwannomas dx?

neurofibromatosis type 2

hyperreflexia, hypertonia, Babinski sign present dx?

UMN damage

hyporeflexia, hypotonia, atrophy, fasciculations dx?

LMN damage

unilateral facial drooping involving forehead dx?

LMN facial nerve palsy | (UMN lesions spare the forehead)

episodic vertigo, tinnitus, hearing loss dx?

Meniere disease

Ptosis, miosis, anhidrosis dx?

horner syndrome sympathetic chain lesion

conjugate horizontal gaze palsy, horizontal diplopia dx?

internuclear ophthalmoplegia damage to MLF; may be unilateral or bilateral

polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets dx?

Fanconi syndrome multiple combined dysfunction the proximal convoluted tubule

bluish line on gingiva dx?

Burton line - lead poisoning

periorbital and/or peripheral edema, proteinuria (\>3.5g/d), hypoalbuminemia, hypercholesterolemia dx?

nephrotic syndrome

hereditary nephritis, sensorineural hearing loss, cataracts dx? genetics?

Alport Syndrome mutation in collagen IV

streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema dx?

Turner Syndrome (45, XO)

red, itchy, swollen rash of nipple/areola dx? means?

Paget disease of the breast sign of underlying neoplasm

fibrous plaques in soft tissue of penis with abnormal curvature dx?

Peyronie disease connective tissue disorder

hypoxemia, polycythemia, hypercapnia dx?

chronic bronchitis hyperplasia of mucous cells, 'blue bloater'

pink complexion, dyspnea, hyperventilation dx?

emphysema 'pink puffer', centriacinar (smoking) or panacinar (alpha-1 antitrypsin deficiency)

bilateral hilar adenopathy, uveitis dx?

sarcoidosis (noncaseating granulomas)