FA - Classic Presentations Flashcards
abd pain, ascites, hepatomeagly
Budd-chiari syndrome (post-hepatic venous thrombosis)
achilles tendon xanthoma
familial hypercholesterolemia (decr LDL receptor signaling
adrenal hemorrhage, hypotension, dic
waterhouse-friederichsen syndrome (meningococcemia)
anterior drawer sign (+)
ACL injury
arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
marfan syndrome (fibrillin defect)
athlete with polycythemia
2˚ to EPO inj.
back pain, fever, night sweats, weight loss
pott disease (vertebral TB, usually at the thoracic + upper lumbar vertebrae, resulting from hematogenous spread - usually lungs)
bilateral hilar adenopathy, uveitis
sarcoidosis (non-caseating granuloma)
blue sclera
osteogenesis imperfecta (type I collagen defect)
bluish line on gingiva
burton line (lead poisoning)
bone pain, bone enlargement, arthritis
paget disease of bone (incr. osteoblastic + osteoclastic activity causes excessive breakdown and formation of bone, followed by disorganized bone remodelling. )
bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
butterfly facial rash, raynaud’s phenomenon in a young female
SLE
cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+pheochromocytoma, optic glioma)
cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy
muscular dystrophy (commonly Duchenne) - X-linked recessive deletion of dystrophin gene
cherry-red spots on macula
Tay-Sachs (ganglioside accumulation) or NPC (sphingomyelin accumulation), central retinal artery occlusion
chest pain on exertion
angina
stable with moderate exertion
unstable with minimal exertion
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-2 weeks after acute episode)
child uses arm to stand up from squat
Gower’s sign (Duchenne muscular dystrophy)
child with fever later develops rash on face that spreads to body
Parvo-B19 - slapped cheeks (erythema infectiosum/5th disease)
chorea, dementia, caudate degeneration
Huntingtons (autosomal CAG repeat expansion)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
internuclear ophthalmoplegia (damage to MLF)
if bilateral, think multiple sclerosis
if unilateral, think stroke
continuous machine like heart murmur
Rx to close? keep open?
PDA
- close w. indomethacin
- keep open w. misoprostol or PGE2
cutaneous/dermal edema due to connective tissue deposition
myxedema (hypothyroidism, grave’s disease (pretibial)
newborn with abd distension w. or w.o emesis, progressive pallid cyanosis, vasomotor collapse, irregular respiration, and refusal to suck
- mom received this Rx close to delivery date
chloramphenicol
“gray baby syndrome”
infant with growth failure, cataracts, liver disease, aminoaciduria, mental retardation
galactosemia - def. of galactose-1-phosphate uridyltransferase
dark purple skin/mouth nodules in an immunocompromised patient
Kaposi sarcoma (HHV-8)
deep, labored breathing/hyperventilation
kussmaul respirations (DKA)
increased JVP on inspiration
kussmaul sign - normally decreases but because the negative intrathoracic pressure is not transmitted to the heart -> impaired R filling of the RV, blood backs up into vena cava -> JVD
usual causes: constrictive pericarditis, restrictive cardiomyopathies, RA or RV tumors
Dilated cardiomyopathy, edema, OH, or malnutrition
Wet beriberi (thiamine/Vit B1 deficiency)
bites (dog/cat) resulting in infection
pasturella multocida (cellulitis at inoculation site)
dry eyes, dry mouth, arthritis
Sjogren syndrome (exocrine gland destruction)
dysphagia (esophageal webs), glossitis, IDA
plummer-vinson syndrome (may progress to esophageal squamous cell carcinoma)
elastic skin, hypermobility of joints
ehler-danlos syndrome (Type III collagen defect)
enlarged, hard L supraclaviular node
Virchow node (abd. metz)
erythroderma, lymphadenopathy, hepatosplenomeagly, atypical T cells
mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis + malignant T cells in blood)
facial muscle spasm upon tapping
chvostek sign (hypocalcemia)
fat, female, forty, and fertile
cholelithiasis (gall stones)
fever, chills, HA, myalgia following antibiotic treatment for syphillis
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
fever, cough, conjunctivitis, coryza, diffuse rash
measles
fever, night sweats, weight loss
B symptoms of lymphoma
fibrous plaques in soft tissue of penis
peyronie disease (CT d/o)
gout, intellectual disability, self-mutilating behavior in boy
Lesh-Nyhan syndrome (HGPRT deficiency, X-link recessive)
green-yellow rings around peripheral cornea
Kayser-flescher rings (Cu accumulation - Wilson’s disease)
hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands
peutz-Jegher’s syndrome (inherited, benign polyposis) - can cause bowel obstruction, increase cancer risk elsewhere
hepatosplenomeagly, osteoporosis, neurologic symptoms
gaucher’s disease (glucocerebrosidase deficiency)
hereditary nephritis, sensorineural hearing loss, cataracts
alport syndrome (mutation in collagen IV)
hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-bucy syndrome (bilateral amygdala lesion
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
infant with failure to thrive, hepatosplenomegaly, and neurodegeneration w/ retinal pallor
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, failure to thrive, and hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/ supernumerary teeth
Gardner syndrome (subtype of FAP)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pad of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
aneway lesions (infective endocarditis, septic emboli/ microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1AT deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A
2° syphilis
Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant TSG mutation)
Resting tremor, rigidity, akinesia, postural instability
Parkinson disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation, hypotension, fatigue
Addison disease (1° adrenocortical insufficiency causes increased ACTH and α-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (2° syphilis)
Splinter hemorrhages in fingernails
bacterial endocarditis
“Strawberry tongue”
Scarlet fever, Kawasaki disease, toxic shock syndrome
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
labs: increase proteases, glycosylase, lipases
I-cell disease - inability of GOLGI to phosphorylate mannose residues –> proteins are secreted extracellularly rather than delivered to lysosomes
coarse facies (gargoyle facies), clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes
I-cell disease - inability of GOLGI to phosphorylate mannose residues –> proteins are secreted extracellularly rather than delivered to lysosomes
patient with sickle cell anemia should be vaccinated against what
pneumococcus
encapsulated due to autosplenectomy; also at risk for salmonella and klebsiella
diabetic foot ulcer with gram (-) bacilli, oxidase (+).
other toxin that has the same mxm?
pseudomonas aeruginosa, exotoxin A.µ
ADP-ribosylation.
diphtheria toxin.
sympathetic cholinergic neurons activation
diaphoresis
baby with chorioretinitis, hydrocephalus, and intracranial calcifications
congenital toxoplasmosis
patient with increased blood ammonium and urine orotic acid levels
defect in ornithine transcarbamoylase (see page 108 FA2014)
patient with polycystic kidney disease with sudden onset of severe headache and evidence of nuchal rigidity, never had it in the past.
subarachnoid hemorrhage - berry aneurysms
patient with HTN and bradycardia
Cushing reflex due to incr. ICP (–> constricts arterioles –> cerebral ischemia and reflex sympathetic increase in perfusion pressure/HTN -> stretch -> reflex baroreceptor induced bradycardia)
testicular atrophy, eunuchoid body shape, tall long extremities, gynecomastia, female hair distribution
Klinefelter syndrome, XXY
short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, preductal coaractation, webbed neck or cystic hygroma, horseshoe kidney
Turner syndrome
male, very tall, severe acne, normal fertility, antisocial behavior (some are autistic)
double male, XYY
both ovary + testicular tissue are present, ambiguous genitalia
true hermaphroditism, 46XX or 47XXY
ovaries, but external genitalia are virilized or ambiguous.
female pseudo-hermaphrodite; commonly due to exposure to androgenic steroids during early gestation (CAH, exogenous steroid use)
testes, but external genitalia are feminized or ambiguous.
male pseudo-hermaphrodite; commonly due to androgen insensitivity
ambiguous genitalia
increased serum testosterone and androstenedione
maternal virilization during pregnancy
aromatase deficiency, 46XX
Masculinization of female infants
Cannot synthesize estrogens from androgens –> high levels of androgens
femal external genitalia with rudimentary vagina uterus + fallopian tubes are absent scant sexual hair balls found in labia majora increased T, E, LH
androgen insensitivity 46 XY
ambiguous genitalia until puberty, where it starts to become masculinized
normal T, E, normal or high LH
internal genitalia are normal
5a reductase deficiency
anosmia, infertility
kallmann syndrome
cyclic pelvic pain, bleeding, dysmenorrhea, dyspareunia, dyschezia (pain w/ defecation), infertility, normal sized uterus
endometriosis
dysmenorrhea, menorrhagia
enlarged soft globular uterus
adenomyosis (endometrial cells invading into muscular part of uterus)
signs of menopause after puberty but before age 40
premature ovarian failure
ascites, hydrothorax, pulling sensation in groin
Meigs syndrome - ovarian fibroma - contains spindle shaped fibroblasts
F with abnormal uterine bleeding, sexual precocity (in preadolescents), breast tenderness
Granulosa cell tumor (estrogen-secreting)
tumor that develops during pregnancy or after pregnancy in mother OR BABY. MOther presents with increased levels of ßhCG, shortness of breath, hemoptysis, with hematogenous spread to lungs
choriocarcinoma - increased hCG
abnormal uterine bleeding in a post-menopausal woman
thecoma
bloody dipple discharge
intraductal papilloma (grows in lactiferous ducts)
eezematous patches on nipple
Paget disease - malignant breast tumor that results from underlying DCIS
large bulky mass of CT and cysts with “leaf-like projections” in stroma of breast
phyllodes tumor
firm, fibrous rock hard mass with sharp margins and small, glandular duct-like cells
invasive ductal breast tumor
peau d’orange breasts
inflammatory breast cancer; due to dermal lymphatic invasion.
painless, homogenous testicular enlargement
seminoma - testicular germ cell tumor with fried egg appearance, increased ALP
M w/ gynecomastia and hyperthyroidism
comes into the ER with a hemorrhagic stroke
choriocarcinoma - can metz to lungs and brain (hemorrhagic stroke due to bleeding into the metz); hyperthyroidism because hCG is a LH/TSH analog
child w/ brittle kinky hair, growth retardation, and hypotonia
CT d/o due to impaired Cu absorption + transport -> leads to decreased activity of lysyl oxidase (Cu is a necessary cofactor)
aorta w/ tree-bark appearance
syphilis - due to wrinkling of the intima as a result of ischemia and atrophy of the media layer
MRI shows a “ball valve obstruction”, patient has fever + weight loss
myxomas - tend to produce IL6, which causes the fever + weight loss
dermatitis, dementia, diarrhea
pellagra (niacin/Vit B3 deficiency)
