Rapid Review Presentations Flashcards
Abdominal pain, ascities, hepatomegaly
Budd-Chiari syndrome (post hepatic venous thrombosis)
Achilles tendon xanthoma
familial hypercholesterolemia (low LDL Recptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
marfans syndrome (fibrillin defect)
athelete with polycythemia
epo injections
back pain, fever, night sweats, weight loss
Pott’s Disease (vertebral TB)
bilateral hilar adenopathy, uveitis
sarcoidosis
blue sclera
Osteogenesis inperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargment, arthritis
Paget’s disease of bone (high blast and clast activity)
Bounding pulses, diastolic heart murmor, head bobbing
aortic regurg
Butterfly facial rash, raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NFI (+pheo, optic gliomas)
Calf pseudohypertrophy
muscular dystrophy (more commonly Duchenne’s), X-linked recessive
Cherry-red spot on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
chest pain on exertion
angina (moderate excersion induced = stable, minimal exercion = unstable)
chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis)
child uses arms to stand up from squat
gower’s sign, duchenne muscular dystrophy
child with fever later develops red rash on face that spreads to body
“slapped cheeks”. erythema infectiosum/fifth disease: parvovirus B19
Chorea, dementia, caudate degeneration
Huntington’s diseaes (CAG repeat, Autodom)
chronic exercise intolerance with myalgia, fatigue, painful cramps, myglobinuria
McArdle’s disease (glycogen phosphorylase deficency)
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
internuclear opthalmoplegia (damage to the MLF. bilateral=MS, unilateral=stroke)
continuous machinery heart murmor
PDA (give indomethacin)
cutaneous/dermal edema due to connective tissue deposition
myxedema (hypothyroidism, or graves disease)
Dark purple skin/mouth nodules
Kaposi sarcoma (AIDS patients with HHV8)
deep labored breathing/hyperventilation
Kussmaul breathing (diabetic ketoacidosis sign)
dermatitis, dementia, diarrhea
Pellagra (niacin aka B3 deficiency)
dilated cardiomyopathy, edema, alcoholism or malnutrition
wet beriberi (thiamin aka B1 def)
dog or cat bite infxn
Pasteurella multocida
dry eyes, dry mouth, arthritis
Sjögren’s syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) this is basically idiopathic inability to swallow + Fe deficency
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
enlarged and hard left supraclavicular node
abdominal metastasis. Virchow’s node
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, and fertile
cholelithiasis (gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release, can be of any bacteria)
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
fever, night sweats, weight loss
b symptoms (staging) lymphoma
fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
what step of collagen synthesis is defective in Ehlers-Danlos syndrome?
cross-linking
what is osteogenesis imperfecta?
“brittle bone disease” messed up type I collagen.
4 signs of osteogenesis imperfecta
- multiple fractures within minimal trauma
- blue sclera
- hearing loss (middle ear bones)
- dental imperfections due to lack of dentin
Alports syndrome collagen type and organ systems
4 collagen: kidney, ears, and eyes
gout, mental retardation, self-mutilation in a boy
Lesch-Nyhan syndrome (HGPRT deficency)
green-yellow rings around peripheral cornea
Kayser-Fleischer rings (coper accumulation in Wilson’s disease)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hand
Peutz-Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction and risk of cancer)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural heraing loss, cataracts
Alports syndrome
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kulver-Bucy syndrome (bilateral amygdala lesion)
hyperreflexia, hypertonia, babinski sign present
UMN damage
hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
hypoxemia, polycythemia, hypercapnia
“blue bloater” COPD chronic bronchitis (hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis)
Painful with exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palat, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycermia, failure to thrive, and hepatomegaly
Cori’s disease (debranching enzyme deficiency)
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 (Lymes disease Borrelia burgifor)
LUcid interval after traumatic brain injury then loss of consciousness
Epidural hematoma (middle meningeal artery rupture)
male childe, recurrent infections, no mature B cells
Bruton’s disease (x-linked agammaglobulinemia)
mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in plate agg cuz no GpIIb/IIIa)
muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth
Gardner’s syndrome (type of Familial Adenomatous Polyposis)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease (lysosomal alpha-1,4 glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk C5-6 brachial plexus injury) “waiter’s tip”
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s 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 high ICP)
Painful blue fingers/toes, hemolytic anemia
cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumonia, or infectious mononucleosis)
painful, pale, cold fingers/toes
Raynaud’s phenomenon (vasospasm of extremities seen in SLE or drug induced)
Painful raised red lesions on pad of fingers/toes
oslers node (infective endocarditis, immune complex deposition)
painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis,septic emboli/microabscesses)
painless jaundice
cancer of pancreatic head obstructive the bile duct
palpable purpura on butt/legs, joint pain abdominal pain (child) hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
pink complexion, dyspnea, hyperventilation
“pink puffer” emphysema: centriacinar (smoking), panacinar (alpha1-antitrypsin def)
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophatemic rickets
Fanconi’s syndrome (proximal tubular reabsorption defect)
pruritic, purple, polygonal planar papules and plaques
Linchen planus
ptosis, miosis, anhidrosis
horners syndrome (sympathetic chain lesion)
pupil accomodates but doesn’t react
argylll robertson pupil (neurosyphilis)
praidly progressive leg weakness that ascends following GI/upper respiratory infxn
Guillain_barre syndomre (campylobacter most commonly)
rash on palms and soles
CARS: Coxsackie A, Rocky Mountain spotted fever (Rickettsii), Secondary Syphilis
recurrent colds, unusual ecema, higher serum IgE
Hyper-IgE syndrome (job’s syndrome, neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholics or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia (adults), intussusception (infants)
red, itchy, swollen rash of nipple
Paget’s disease of breast (neoplasm)
red urine in morning, fragile RBCs
paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Lindau disease (autosomal dominant)
resting tremor, rigidity, akinesia, postural instability
Parkinsons (nigrostriatal dopamine depletion)
retinal hemorrhage with pale centers
roth spots seen in bacterial endocarditis
severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
severe RLQ pain with palpation of LLQ
acute appendicitis
severe RLQ pain with rebound tenderness
appendicits
short stature, increase tumors/leukemia, aplastic anemia, hypoplastic thumbs
Fanconi anemia (loss of DNA-crosslink repair, progresses to AML)
single palmar crease
simian crease (Down syndrome)
situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (cilia dynein arm defect)
agenisis of vas deferens bilaterally
cystic fibrosis
skin hyperpigmentation, hypotension, fatigue
Addison’s disease (1 adrenocortical insufficiency causes high ACTH and alpha-MSH)
slow progressive muscle weakness in boys
Beckers muscular dystrophy, less severe than duchennes
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 (secondary 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
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vitamin C def: cant hydroxylate proline/lysine for collagen synthesis)
swollen, hard painful finger joints
osteoarthritis
systolic ejection murmur (crescendo-decrescendo)
aortic valve stenosis
thyroid, parathyroid, pheochromo tumors
MEN2A (ret gene)
thyroid tumor, pheo, ganglioneuromatosis
MEN2B (ret gene)
unilateral facial drooping involving forehead
facial nerve (7)
urethritis, conjunctivitis, arthritis in a male
reactive arthritis (HLA-B27)
Vascular birthmark (port-wine stain)
Hemangioma (benign but associated with Sturge-Weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholics, bulimics, anorexic purgers)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
Worse headache of my life
subarachnoid hemorrhage
