Classic Presentations Flashcards
Abdominal Pain
Ascites
Hepatomegaly
Budd-Chiari syndrome
post-hepatic thrombosis
Abdominal Pain
Diarrhea
Leukocytosis
Recent antibiotic use
Clostridium difficile infection
Achilles tendon xanthomas
Familial hypercholesterolemia
AKA Type II hyperlipoproteinemia
(decreases LDL receptor signalling)
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-friderichsen syndrome
(meningococcemia)
N. meningitidis
Anaphylaxis following blood transfusion
IgA deficiency
positive Anterior “drawer sign”
ACL injury (anterior cruciate ligament)
Arachnodactyly
lens dislocation (upward)
Aortic dissection
Hyperflexible joints
Marfans syndrome (fibrillin defect)
Athlete with polycythemia
secondary to erythropoietin injection
Back pain
Fever
Night sweats
Pott disease (vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar lymhadenopathy
uveitis
Sarcoidosis (non-caseating granulomas)
Black eschar on face of patient with DKA
mucor or rhizopus fungal infection
Blue scera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain
Bone enlargement
Osteoparosis
Pagets disease of the bone
Increase osteoblastic and osteoclastic activity
Bounding pulses
Wide pulse pressure
Diastolic murmur
head bobby
Aortic regugitation
“Butterfly” facial rash
Raynaud phenomenon
young female
Systemic lupus erythematous
Cafe-au-lait spots Lisch nodules (iris hamartoma) Cutaneous neurofibromas pheochromocytoma optic glioma
Neurofibromatosis type 1
Cafe-au-lait sits (unilateral)
Polyostotic fibrous displasia
percocious puberty
multiple endocrine abnormalities
McCune Albright Syndrome
mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy
most commonly Duchenne, due to x-line recessive frameshift mutation of dystrophin gene
Cervical lymphadenopathy Desquaminating rash coronary aneurysms Red conjunctiva and tongue Hand-foot changes Asian race
Kawasaki disease
(acute, self-limiting necrotizing vasculitis)
Tx: IVIG and aspirin
“cherry-red” spot on macula
Tay Sachs (ganglioside accumulation)
or
Neimann-pick (sphingomyelin accumulation)
Chest pain on exertion
Angina
stable: with moderate exertion
(unstable: with minimal exertion or at rest)
Chest pain
Pericardial effusion/friction rub
persistent fever following MI
Dressler Syndrome
(auto-immune mediated ost MI fibrinous pericarditis)
(2 weeks to several months after acute MI)
Chest pain with ST depression
Unstable angina (with neg troponin)
or
NSTEMI (positive troponin)
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gower’s sign)
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/ fifth disease (“slapped cheek” appearance, caused by parvovirus B19)
Chorea
dementia
caudate degeneration
Huntington’s disease
autosomal dominant CAG repeat expansion
Chorioretinitis
hydrocephalus
intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia
Fatigue
Painful cramps
Myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylation deficiency) (glycogenolysis deficiency)
Cold intollerance
hypothyroid
Conjugate horizontal gase palsy
horizontal diplopia
Internuclear opthalmoplegia
damage to MLF, may be u/l or b/l
Continuous “machine-like” heart murmur
PDA
close with indomethacin, NSAID
(keep open with PGE analogs)
Cutaneous/dermal edema due to connective tissue disorer
Myxedema (caused by hypothyroidism, grave’s disease)
esp. pre-tibial
Cutaneous flushing
diarrhea
bronchospasm
Carcinoid syndrome
right-sided cardiac valvular lesion, increase serotonin (5-HIAA)
Dark purple skin/mouth nodules in patient with HIV
Kaposi sarcoma (HHV-9)
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
Dermatitis
Dementia
Diarrhea
Pellagra
(niacin deficiency)
Niacin = vit. B3
Dilated cardiomyopathy
edema
alcoholism, or malnutrition
Wet beri beri
(thiamine deficiency)
thiamine = vitamine B1
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at innoculation site)
tx: penicillin
Dry eyes
Dry mouth
Arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esohageal webs)
Glossitis
Iron deficiency anemia
Plummer-Vinson syndrome
may progress to esophageal squamous cell carcinoma
Elastic skin
hypermobility of joints
increased bleeding tendency
Ehlers-Danlos syndrome
(type V collage defect)
Type II collagen defect seen in vascular subtype of ED
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Episodic vertigo
tinnitus
hearing loss
Meneire disease
Erythroderma
Lymphadenopathy
hepatosplenomegaly
Atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma)
or
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat
Female
Forty
Fertile
Cholelithiasis (gall stones)
Fever, cells, headache, mayalgia
following antibiotic tx for syphyllis
Jarisch-Herheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)
Fever, cough, conjunctivitis, coryza, diffuse rash
measles
Fever, night sweats, weight loss
B symptoms of lymphoma
fibrous plaques in soft tissue of penis with abnl curvature
Peyronie’s disease (connective tissue disorder)
Golden brown rings around peripheral cornea
Wilson disease (Kayser-fleischer rings due to copper accumulation
Gout
Intellectual disability
Self-mutilating behavior in a boy
Lesch Nyhan
HGPRT deficiency
X-linked recessive
Hamartomatous GI polyps
Hyperpygmentation of mouth, feet, genitalia
Peutz-Jegher syndrome
Bowl obstruction
autosomal dominant
(mutation in STK11, serine threonine kinase
tumor suppressor gene)
Increased risk for malignancy
Hepatosplenomegaly Pancytopenia Osteoporosis Aseptic necrosis of femoral head Bone crisis
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis
sensorineural hearing loss
cataracts
Alport syndrome
mutation in collagen IV
Hyperphagia
Hypersexuality
Hyperorality
Hypercacility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia
Hypertonia
Babinski sign
UMN damage
Hyporeflexia
hypotonia
atrophy
fasciulations
LMN damage
Hypoxemia
polycythemia
hypercapnia
Chronic bronchitis
hyperplasia of mucus cells, blue bloaters
Indurated, ulcerated genital lesions
Nonpainful: chancre (syphilis)
Painful with exudate: Chancroid (haemophilus ducreyi)
Infant with cleft palate
microcephaly or holoprosencephaly
polydactyly
cutis aplasia
Patau syndrome (trisomy 13)
Infants with hypoglycemia and hepatomegaly
Cori disease (debranching enzyme deficiency)
Van Gierke disease (glucose-6-phosphate deficiency, more severe)
jaundice
palpable distended non-tender gallbladder
Courvoisier sign (distal malignant destruction of biliary tree)
Infants with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards Syndrome
trisomy 18
Large rash with bulls-eye appearance
Lyme disease
Borrelia
From ixodes tick bite
tx: doxycycline
Lucid interval after TBI
Epidermal hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Burton disease (x-inked agammaglobulinemia)
Mucosal bleeding
Prolonged bleeding time
Glanzmann thrombobasthenia (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 intollerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
Neonate with arm paralysis following birth
Erb-duchenne palsy (superior trun C5-c6 brachial plexus injury)
“waiters-tip”
No lactation post partum
absent menstruation
cold intollerance
Sheehan syndrome (pituitary infarction)
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear opthalmoplegia
Multiple sclerosis
Painful blue fingers/toes
hemolytic anemia
Cold agglutination disease (auto-immune hemolytic anemia caused by mycoplama pneumonia, infectious mononucleosis, CLL)
painful fingers/toes that change color from white to blue with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on palm and soles
janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless jaundiece
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs
joint pain
abdominal pain (child)
hematuria
Henoch-Shonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (Autosomal dominant)
Periorbital and/or peripheral edema
proteinuria (>3.5 g/day)
hypoalbuminemia
Hypercholesterlemia
Nephrotic syndrome
Pink complexion
dyspnea
hyperventilation
Emphysema (“pink puffer”, centriacinar (smoking) or panacinar (alpha1 anti-trypsin deficiency))
Polyuria Renal tubular acidosis type II growth failure electrolyte imbalances hypophosphatemic rickets
Falconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
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
Neurosyphilis (argyll robertson pupil)
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demylenating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A,
Secondary syphilis
Rocky mountain spotted fever
Recurrent cold
noninflamed abscesses
unusual eczema
high serum IgE
hyper IgE (Job syndrome, abnormal neutrophil chemotaxis)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant Jelly” stools
Acute mesenteric ischemia (adults)
Inussusception (children)
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 (b/l)
hemangioblastoma
angiomatosis
pheochromocytomai
Von Hipple-lindau disease
(dominant tumor suppressor gene mutation)
down regulates a transcription factor (HIF-1) involved in the expression of VEG-F and erythropoieten
Resting tremor Rigidity Akinesia Postural instability shuffling gat
Parkinson’s disease (loss of dopaminergic neurons in substantia nigra)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Nejjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Rovsing’s sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney’s sign (acute appendicitis)
Short stature Cafe au-lait spots thumb/radial defects 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
bronchiestasis
infertility
Kartagener syndrome (dynein arm defect affecting cilia)
skin hyperpigmentation
hypotension
fatigue
primary adrenocotical insufficiency (ex: addison’s disease)
Causes increased ACTH and Increased Alpha-MSH production)
Slow, progressive muscle weakness in boys
Becker Muscular dystrophy (x-linked missense mutation in dystrophin, less severe than duchenne)
Small, irregular red sots on buccal/lingual mucosa with blue/white centers
Koplik spots (measels)
Smooth, moist, painless wart-like lesion on genitals
Condyloma lata (secondary syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
“Strawberry tongue”
Scarlet fever
Kawasaki disease
Streak ovaries Congenital heart disease Horse shoe kidney cystic hygroma at birth Short stature Webbed neck Lymphedema
Turner syndrome (45, XO)
Sudden swollen/ painful big toe joint
Tophi
Gout (hyperuricemia)
Systolic ejection murmur (Crescendo-decrescendo)
Aortic stenosis
Telangiectasia Recurrent epistaxis Skin discoloration Arteriovenous malformations GI bleeding Hematuria
Osler-Weber-Rendu syndrome
Hereditary hemorrhagic telangiectasia
Thyroid and parathyroid tumors
Pheochromocytoma
MEN2A
autosomal dominant RET mutation
Thyroid tumor
Pheochromocytoma
Ganglioneuromatosis
MEN2B
AD RET mutation
Toe extension/fanning upon palmar scrape
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead)
LMN facial nerve palsy
UMN lesion spare the forehead
Urethritis
Conjunctivitis
arthritis in a male
Reactive arthritis associated with HLA-B27
Vascular birthmark (port wine stain) on face
Nevus flammeus (benign, but associated with sturge-weber syndrome)
Vomiting blood following gastroesophageal laceration
Mallory-Weiss syndrome
alcoholic and bulimic patients
Weight loss
diarrhea
fever
Lymphadenopahty
Whipple disease (Tropheryma whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
