Classic Presentations Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly, no JVD
A
Budd-Chiari Syndrome
2
Q
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use (clindamycin)
A
C. Diff
3
Q
Achilles tendon Xanthoma
A
Familial hypercholesterolemia (Decreased LDL receptor)
4
Q
Adrenal Hemorrhage, hyptension, DIC
A
Waterhouse-Friedrichsen syndrome secondary to Menigicococcal meningitis
5
Q
Anaphylaxis follow blood transfusion
A
IgA deficiency
6
Q
Anterior drawer sign
A
ACL injury
7
Q
Arachnodactyly, upward lens dislocation, aortic dissection, hyperflexible joint
A
Marfan Syndrome (Fibrillin defect)
8
Q
Athlete with polycythemia
A
Exogenous EPO use
9
Q
Back pain, fever, night sweats, possible TB history
A
Potts Disease
10
Q
Bilateral acoustic schwannomas
A
NF2
11
Q
Bilateral Hilar adenopathy, uveitis
A
Sarcoidosis (non caseating granulomas)
12
Q
Black eschar on face of patient with diabetic ketoacidosis
A
Mucor or Rhizopus (Non septate wide branching hyphae)
13
Q
Blue sclera
A
Osteogenesis Imperfecta (type 1 collagen defect)
14
Q
Bluish line on gingiva
A
Lead poisoning (Burton line)
15
Q
Bone pain, bone enlargement, arthritis
A
Pagets Disease of Bone (Increased osteoblastic and osteoclastic activity, ratio depends on phase)
16
Q
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
A
Aortic regurgitation
17
Q
Malar rash and raynauds in young female
A
SLE
18
Q
Cafe-au-lait spots, lisch nodules (hamartomas of iris), cutaneuous neurofibromas, pheochromocytoma, optic glioma
A
NF1
19
Q
Unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (Mosaic G-protein signaling mutation)
20
Q
Calf pseudohypertrophy
A
Duchennes muscular dystrophy (Frameshift mutation leading to non-functional dystrophin gene)
21
Q
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes.
A
Kawasaki’s disease (treat with IVIG and aspirin, may also present as angina like syndrome in young asian)
22
Q
“Cherry red spots on macula”
A
Niemann-Pick (hepatosplenomegaly) or Tay Sacks (no hepatosplenomegaly), may also be central retinal artery occlusion
23
Q
Chest pain on exertion
A
Angina (Stable if relieved with rest)
24
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
25
Chest pain and ST depression on EKG
Unstable angina (- troponins) or NSTEMI (+ troponins)
26
Child uses arm to stand up from squatting
Duchennes Muscular Dystrophy (Gowers Sign)
27
Child with fever develops red rash on face that spreads to body.
Parvovirus B19 (also called erythema infectiosum or 5th disease)
28
Chorea, dementia, caudate generation
Huntingtons Diseas (CAG repeats)
29
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
30
Chronic exercise intolerance, myalgias, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Cold Intolerance
Hypothyroidism
32
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF)
33
Continuous "machine like" murmur
Persistent Ductus Arteriosus (close with indomethacin, keep open in RtoL shunt with PGE2)
34
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (hypothyroidism or graves disease)
35
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid Syndrome (right sided cardiac valve lesions, increased 5-hiaa, GI carcinoids dont present with symptoms until metastasized beyond liver)
36
Dark purple skin/mouth nodules in patient with AIDS
Kaposi Sarcoma (HHV-8)
37
Deep labored breathing, hyperventilation
Kussmaul Respirations (DKA)
38
Dermatitis, Dementia, Diarrhea
Pellagra (Niacin deficiency)
39
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Beri Beri (Thiamine deficiency)
40
Dog or Cat Bite resulting in infection
Pastuerella Multicida (cellulitis at inoculation site, treat with augmentin)
41
Dry eyes, dry mouth, arthritis
Sjogren Syndrome (autoimmune destruction of endocrine glands, anti ro/la antibodies present)
42
Dysphagia (web), glossitis, iron deficiency anemia
Plummer Vinson syndrome (may progress to esophogeal SCC)
43
Elastic skin, hypermobility of joints, increased bleeding
Ehlers-Danlos (Type V collagen defect classically, Type III in vascular type)
44
Enlarge, hard left supraclivicular node
Virchow node (abdominal metastasis)
45
Episodic vertigo, tinnitus, hearing loss
Menieres Disease (Increased fluid in vestibular space)
46
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungiodes (cutaneous T cell lymphoma) or Sezary syndrome (Mycosis fungiodes plus malignant T cells in the blood)
47
Facial muscle spasm upon tapping
Chvosteks sign (hypocalcemia)
48
Fat, female, forty, fertile
Cholelithiasis (gallstones)
49
Fever, chills, headache, myalgia following antibiotic treatment for syphillis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin like release)
50
Fever, cough, conjunctivitus, coryza, diffuse rash
Measles
51
Fever, night sweats, weight loss
B symptoms of lymphoma
52
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
53
Golden brown rings around peripheral cornea
Keyser Fleischer rings (Wilsons disease due to copper accumulation following decrease ceruluplasmin formation and secretion into the bile for excretion)
54
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyan syndrome (deficiency of HGPRT, XR, leads to hyperuricemia due to inability to recycle purines. Treat with XO inhibitors)
55
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands and genitalia.
Peutz Jeghers syndrome (inherited benign polyposis that can cause bowel obstruction. Increased risk of GI cancer.
56
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crisis.
Gaucher disease (glucocerebrosidase deficiency)
57
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (mutation in Collagen IV)
58
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver Bucy syndrome (bilater amygdala lesion)
59
Hyperreflexia, hypertonia, babinski sign present
UMN damage
60
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damages
61
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, "blue bloater)
62
Indurated, ulcerated genital lesion
Syphillis (nonpainful), Haemophilis ducreyi (painful and exudative)
63
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau Syndrome (Trisomy 13)
64
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von gierke disease (Glucose 6 phosphotase deficiency)
65
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
66
Jaundice, palpable distended non-tender gallbladder
Courvosier sign (distal malignant obstruction of biliary tree)
67
Large rash with bulls eye appearance
Erythema chronicum migrans from Ixodes Tick bite (Lyme Disease)
68
Lucid interval after traumatic brain injury before decline
Epidural hematoma (does not cross suture lines on CT, middle meningeal artery rupture)
69
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinemia)
70
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of IIB/IIIA)
71
Muffled heart sounds, distended neck veins, hypotension
Becks triad (cardiac tamponade)
72
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP, APC then KRAS then P53 leads to colon carcinoma)
73
Myopathy, exercise intolerance, cardiomyopathy
Pompe disease (lysosomal glycogen breakdown disorder)
74
Neonate with arm paralysis following birth complicated by large gestational age or dystocia
Erb-duchennes palsy (superior trunk of brachial plexus causing waiters tip deformity)
75
No lactation postpartum, absent menses, cold intolerance
Sheehan syndrome (pituitary infarction)
76
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
77
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (Mycoplasma, mono, CLL)
78
Painful red raised lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
79
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli, microabcesses)
80
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
81
Palpable purpura on buttock/legs, joint pain, abdominal pain, hematuria
HSP (IgA vasculitis of skin and kidneys)
82
Pancreatic, pituitary, parathyroid tumors
MEN1 (Autosomal dominant)
83
Periorbital and or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
84
Pink complexion, dyspnea, hyperventilation
Emphysema ("Pink puffer" centriacinar associated with smoking, panacinar associated with a1antitrypsin deficiency, FEV1/FVC ratio below 70% of expected, lung often hyperinflated)
85
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
86
Pruritic, purple, polygonal planar papules and plaques
Lichen Planus
87
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
88
Pupil accomodates but doesn't react
Neurosyphillis (Argylle robinson pupil)
89
Rapidly progressive limb weakness that ascends following gi/upper respiratory infection
Guillan Barre syndrome (acute inflammatory demyelinating polyradiculopathy cause by T cell activation agains myelin, associated most often with campylobacter)
90
Rash on palms and soles
Rockey mountain spotted fever, secondary syphillis, or Cocksackie A (Hand Foot Mouth)
91
Recurrent cold abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome; neutrophil chemotaxis abnormality)
92
Red "currant jelly" sputum in alcoholic or diabetic patients
Klebsiella pneumonia
93
Red "currant jelly" stool
Acute mesenteric ischemia in adults, intussusception in kids
94
Red, itchy, swollen rash of nipple/areola
Pagets disease of the breast (sign of underlying neoplasm)
95
Red urine in morning, fragile RBCs
PNH (RBCs have poor tolerance for decrease in PaO2 at night and hemolyze)
96
Renal cell carcinoma, hemagioblastomas, angiomatosis, pheochromocytoma
von Hipple Lindau (dominant tumor suppressor disease)
97
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinsons disease (loss of dopaminergic neurons in SN pars compacta, may also be due to overdosing of neuroleptics)
98
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
99
Severe jaundice in neonate
Criggler Najjar syndrome (type I worse than type II, congenital deficiency or lack of enzyme that conjugates bilirubin)
100
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
101
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
102
Short stature, care au lait spots, thumb/radial defects, increased incidence of tumors, leukemia, and aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
103
Single palmar crease
Down syndrome
104
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartageners syndrome (primary ciliary dyskinesia, due to failure of dynein arms to work correctly)
105
Skin hyperpigmentation, hypotension, fatigue
Primary adrenal insufficiency (addisons disease)
106
Slow, progressive muscle weakness in a boy
Beckers muscular dystrophy (X linked mutation in dystrophin, not caused by framshift mutation, less severe than duchennes)
107
Small irregular red spots on buccal/lingual mucosa with blue/white centers
Koplik Spots (Measles)
108
Smooth, moist, painless, wart-like lesions on genitals
Condyloma lata (secondary syphillis)
109
Splinter hemorrhages in fingernails
Bacterial endocarditis
110
"Strawberry tongue"
Scarlet fever or Kawasaki's disease
111
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turners Syndrome (45, XO)
112
Sudden swollen/painful big toe joint, tophi
Gout (hyperuricemia, treat with NSAIDs and glucocorticoids depending on comorbidities, colchicine may also be used. Allopurinol may be used to prevent future attacks)
113
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency leading to poor hydroxylation of proline and lysine resides in collagen synthesis)
114
Swollen hard painful finger joints
Osteoarthritis (PIP Buochards, DIP Heberdons)
115
Systolic ejection murmur with crescendo decrescendo
Aortic stenosis
116
Telangeictasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, gi bleeding, hematuria
Osler-weber-rendu (hereditary hemorrhagic telangiectasia)
117
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A
118
Thyroid tumors, pheochromocytoma, ganglineuromatosis
MEN2B
119
Toe extension/fanning upon plantar scrape
Babinski sign (UMN damage)
120
Unilateral facial drooping involving forehead
Bell's palsy (CNVII lesion)
121
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis
122
Vascular birthmark (port wine stain) on face
Nevus flammeus (benign, associated with Sturge weber)
123
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
124
Worst headache of life
Subarachnoid hemorrhage
