Classic Presentations Flashcards
1
Q
Presentation:
Abdominal pain, ascites, hepatomegaly.
Diagnosis?
A
Budd-Chiari syndrome (post-hepatic venous thrombosis)
2
Q
Presentation:
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use.
Diagnosis?
A
Clostridium difficile infection
3
Q
Presentation:
Achilles tendon xanthoma.
Diagnosis?
A
Familial hypercholesterolemia (decreased LDL receptor signaling)
4
Q
Presentation:
Adrenal hemorrhage, hypotension, DIC.
Diagnosis?
A
Waterhouse-Friderichsen syndrome (meningococcemia)
5
Q
Presentation:
Anaphylaxis following blood transfusion.
Diagnosis?
A
IgA deficiency
6
Q
Presentation:
Anterior “drawer sign”.
Diagnosis?
A
ACL injury
7
Q
Presentation:
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints.
Diagnosis?
A
Marfan syndrome (fibrillin defect)
8
Q
Presentation:
Athlete with polycythemia.
Diagnosis?
A
Secondary to Epo injection
9
Q
Presentation:
Back pain, fever, night sweats.
Diagnosis?
A
Post disease (vertebral TB)
10
Q
Presentation:
Bilateral acoustic schwannomas.
Diagnosis?
A
Neurofibromatosis type 2
11
Q
Presentation:
Bilateral hilar adenopathy, uveitis.
Diagnosis?
A
Sarcoidosis (noncaseating granulomas)
12
Q
Presentation:
Black eschar on face of patient with diabetic ketoacidosis.
Diagnosis?
A
Mucor or Rhizopus fungal infection
13
Q
Presentation:
Blue sclera.
Diagnosis?
A
Osteogenesis imperfecta (type I collagen defect)
14
Q
Presentation:
Bluish line on gingiva.
Diagnosis?
A
Burton line (lead poisoning)
15
Q
Presentation:
Bone pain, bone enlargement, arthritis.
Diagnosis?
A
Paget disease of bone (increased osteoblastic and osteoclastic activity)
16
Q
Presentation:
Bounding pulses, diastolic heart murmur, head bobbing.
Diagnosis?
A
Aortic regurgitation
17
Q
Presentation:
“Butterfly” facial rash and Reynaud phenomenon in young female.
Diagnosis?
A
SLE
18
Q
Presentation:
Café-au-lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas.
Diagnosis?
A
Neurofibromatosis type 1
Pheochromocytoma
Optic gliomas
19
Q
Presentation:
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities.
Diagnosis?
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
20
Q
Presentation:
Calf pseudo-hypertrophy.
Diagnosis?
A
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
21
Q
Presentation:
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue.
Diagnosis?
A
Kawasaki disease (treat with IVIG and aspirin)
22
Q
Presentation:
“Cherry-red spots” on macula.
Diagnosis?
A
Tay-Sachs (ganglioside accumulation)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
23
Q
Presentation:
Chest pain on exertion.
Diagnosis?
A
Angina (stable: with moderate exercise; unstable: with minimal exertion)
24
Q
Presentation:
Chest pain, pericardial effusion, friction rub, persistant fever following MI.
Diagnosis?
A
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after episode)
25
Presentation:
Chest pain with ST depressions on EKG.
Diagnosis?
Troponin negative: Unstable angina
| Troponin positive: NSTEMI
26
Presentation:
Child uses arms to stand up from squat.
Diagnosis?
Gowers sign (Duchenne muscular dystrophy)
27
Presentation:
Child with fever later develops red rash on face that spreads to body.
Diagnosis?
Parvovirus B19 infection ("slapped cheeks")
28
Presentation:
Chorea, dementia, caudate degeneration.
Diagnosis?
Huntington disease (autosomal dominant CAG repeat expansion)
29
Presentation:
Chorioretinitis, hydrocephalus, intracranial calcifications.
Diagnosis?
Congenital toxoplasmosis
30
Presentation:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria.
Diagnosis?
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
31
Presentation:
Cold intolerance.
Diagnosis?
Hypothyroidism
32
Presentation:
Conjugate horizontal gaze palsy, horizontal diplopia.
Diagnosis?
Internuclear ophthalmoplegia (damage to MLF)
33
Presentation:
Continuous "machine-like" heart murmur.
Diagnosis?
PDA (close with indomethacin, open or maintain with PGE analogs)
34
Presentation:
Cutaneous/dermal edema due to connective tissue deposition.
Diagnosis?
Myxedema (caused by hypothyroidism, Graves disease)
35
Presentation:
Cutaneous flushing, diarrhea, bronchospasm.
Diagnosis?
Carcinoid syndrome (R-sided cardiac valvular lesions, increased 5-HIAA)
36
Presentation:
Dark purple skin/mouth modules in a patient with AIDS.
Diagnosis?
Kaposi sarcoma (associated with HHV-8)
37
Presentation:
Deep, labored breathing/hyperventilation.
Diagnosis?
Kussmaul respirations (diabetic ketoacidosis)
38
Presentation:
Dermatitis, dementia, diarrhea.
Diagnosis?
Pellagra (niacin deficiency)
39
Presentation:
Dilated cardiomyopathy, edema, alcoholism or malnutrition.
Diagnosis?
Wet beriberi (thiamine deficiency)
40
Presentation:
Dog or cat bite resulting in infection.
Diagnosis?
Pasteurella multocida (cellulitis at inoculation site)
41
Presentation:
Dry eyes, dry mouth, arthritis.
Diagnosis?
Sjogren syndrome (autoimmune destruction of exocrine glands)
42
Presentation:
Dysphagia (esophageal webs), glossitis, iron deficiency anemia.
Diagnosis?
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
43
Presentation:
Elastic skin, hypermobility of joints, increased bleeding tendency.
Diagnosis?
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
44
Presentation:
Enlarged, hard L supraclavicular node.
Diagnosis?
Virchow node (abdominal metastasis)
45
Presentation:
Episodic vertigo, tinnitus, hearing loss.
Diagnosis?
Meniere disease
46
Presentation:
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells.
Diagnosis?
```
Mycosis fungoides (cutaneous T-cell lymphoma)
Sezary syndrome (mycosis fungoides + malignant T cells in blood)
```
47
Presentation:
Facial muscle spasm upon tapping.
Diagnosis?
Chvostek sign (hypocalcemia)
48
Presentation:
Fat, female, forty and fertile.
Diagnosis?
Cholelithiasis (gallstones)
49
Presentation:
Fever, chills, headache, myalgia following antibiotic treatment for syphilis.
Diagnosis?
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
50
Presentation:
Fever, cough, conjunctivitis, coryza, diffuse rash.
Diagnosis?
Measles
51
Presentation:
Fever, night sweats, weight loss.
Diagnosis?
B symptoms (staging) of lymphoma
52
Presentation:
Fibrous plaques in soft tissue of penis with abnormal curvature.
Diagnosis?
Peyronie disease (connective tissue disorder)
53
Presentation:
Golden brown rings around peripheral cornea.
Diagnosis?
Kayser-Fleischer rings (copper accumulation from Wilson disease)
54
Presentation:
Gout, intellectual disability, self-mutilating behavior in a boy.
Diagnosis?
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
55
Presentation:
Hamartomatous GI polyps, hyperpigmentation of mouth, feet, hands, genitalia.
Diagnosis?
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
56
Presentation:
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises.
Diagnosis?
Gaucher disease (glucocerebrosidase deficiency)
57
Presentation:
Hereditary nephritis, sensorineural hearing loss, cataracts.
Diagnosis?
Alport syndrome (mutation in type IV collagen)
58
Presentation:
Hyperphagia, hypersexuality, hyperorality, hyperdocility.
Diagnosis?
Kluver-Bucy syndrome (bilateral amygdala lesion)
59
Presentation:
Hyperreflexia, hypertonia, Babinski sign present.
Diagnosis?
UMN damage
60
Presentation:
Hyporeflexia, hypotonia, atrophy, fasciculations.
Diagnosis?
LMN damage
61
Presentation:
Hypoxemia, polycythemia, hypercapnia.
Diagnosis?
"Blue bloater" (chronic bronchitis, hyperplasia of mucous cells)
62
Presentation:
Indurated, ulcerated genital lesion.
Diagnosis?
Non-painful chancre: Syphilis (primary)
| Painful, with exudate: Chancroid
63
Presentation:
Infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration.
Diagnosis?
Niemann-Pick disease (genetic sphingomyelinase deficiency)
64
Presentation:
Infant with cleft palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia.
Diagnosis?
Patau syndrome (trisomy 13)
65
Presentation:
Infant with hypoglycemia, hepatomegaly.
Diagnosis?
```
Cori disease (debranching enzyme deficiency)
Von Gierke disease (G6Pase deficiency)
```
66
Presentation:
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect.
Diagnosis?
Edwards syndrome (trisomy 18)
67
Presentation:
Jaundice, palpable distended non-tender gallbladder.
Diagnosis?
Courvoisier sign (distal obstruction of biliary tree)
68
Presentation:
Large rash with bull's-eye appearance.
Diagnosis?
Lyme disease (erythema chronicum migrans from Ixodes tick bite, Borrelia infection)
69
Presentation:
Lucid interval after traumatic brain injury.
Diagnosis?
Epidural hematoma (middle meningeal artery rupture)
70
Presentation:
Male child, recurrent infections, no mature B cells.
Diagnosis?
Bruton disease (X-linked recessive agammaglobulinemia)
71
Presentation:
Mucosal bleeding and prolonged bleeding time.
Diagnosis?
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
72
Presentation:
Muffled heart sounds, distended neck veins, hypotension.
Diagnosis?
Beck triad of cardiac tamponade
73
Presentation:
Multiple colon polyps, osteomas, soft tissue tumors, impacted or supernumerary teeth.
Diagnosis?
Gardner syndrome (subtype of FAP)
74
Presentation:
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance.
Diagnosis?
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
75
Presentation:
Neonate with arm paralysis following difficult birth.
Diagnosis?
Erb-Duchenne palsy (superior trunk [C5-6] brachial plexus injury)
76
Presentation:
No lactation postpartum, absent menstruation, cold intolerance.
Diagnosis?
Sheehan syndrome (pituitary infarction)
77
Presentation:
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia.
Diagnosis?
Multiple sclerosis
78
Presentation:
Painful blue fingers or toes, hemolytic anemia.
Diagnosis?
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
79
Presentation:
Painful fingers or toes changing color from blue to white to red with cold or stress.
Diagnosis?
Raynaud phenomenon (vasospasm in extremities)
80
Presentation:
Painful, raised red lesions on pads of fingers or toes.
Diagnosis?
Osler nodes (infective endocarditis, immune complex deposition)
81
Presentation:
Painless erythematous lesions on palms and soles.
Diagnosis?
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
82
Presentation:
Painless jaundice.
Diagnosis?
Cancer of the pancreatic head, obstructing bile duct
83
Presentation:
Palpable purpura on buttocks or legs, joint pain, abdominal pain (child), hematuria).
Diagnosis?
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
84
Presentation:
Pancreatic, pituitary, parathyroid tumors.
Diagnosis?
MEN 1 (autosomal dominant)
85
Presentation:
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia.
Diagnosis?
Nephrotic syndrome
86
Presentation:
Pink complexion, dyspnea, hyperventilation.
Diagnosis?
"Pink puffer" (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])
87
Presentation:
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets.
Diagnosis?
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
88
Presentation:
Pruritic, purple, polygonal planar papules and plaques.
Diagnosis?
Lichen planus
89
Presentation:
Ptosis, miosis, anhidrosis.
Diagnosis?
Horner syndrome (sympathetic chain lesion)
90
Presentation:
Pupil accommodates but doesn't react.
Diagnosis?
Argyll Robertson pupil (neurosyphilis)
91
Presentation:
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection.
Diagnosis?
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
92
Presentation:
Rash on palms and soles.
Diagnosis?
Coxsackie A
Syphilis (secondary)
Rocky Mountain spotted fever
93
```
Presentation:
Recurrent cold (non-inflamed) abscesses, unusual eczema, high serum IgE.
```
Diagnosis?
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
94
Presentation:
Red "currant jelly" sputum in alcoholic or diabetic patients.
Diagnosis?
Klebsiella pneumoniae pneumonia
95
Presentation:
Red "currant jelly" stools.
Diagnosis?
Acute mesenteric ischemia (adults)
| Intussusception (children)
96
Presentation:
Red, itchy, swollen rash of nipple or areola.
Diagnosis?
Paget disease of the breast (sign of underlying neoplasm)
97
Presentation:
Red urine in the morning, fragile RBCs.
Diagnosis?
Paroxysmal nocturnal hemoglobinuria
98
Presentation:
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma.
Diagnosis?
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
99
Presentation:
Resting tremor, rigidity, akinesia, postural instability, shuffling gait.
Diagnosis?
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
100
Presentation:
Retinal hemorrhages with pale centers.
Diagnosis?
Roth spots (bacterial endocarditis)
101
Presentation:
Severe jaundice in neonate.
Diagnosis?
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
102
Presentation:
Severe RLQ pain with palpation of LLQ.
Diagnosis?
Rovsing sign (acute appendicitis)
103
Presentation:
Severe RLQ pain with rebound tenderness.
Diagnosis?
McBurney sign (acute appendicitis)
104
Presentation:
Short stature, cafe-au-lait spots, thumb or radial defects, increased incidence of tumors or leukemia, aplastic anemia.
Diagnosis?
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
105
Presentation:
Single palmar crease.
Diagnosis?
Down syndrome
106
Presentation:
Situs inversus, chronic sinusitis, bronchiectasis, infertility.
Diagnosis?
Kartagener syndrome (dynein arm defect affecting cilia)
107
Presentation:
Skin hyperpigmentation, hypotension, fatigue.
Diagnosis?
Addison disease (primary adrenocortical insufficiency causes increased ACTH and α-MSH production)
108
Presentation:
Slow, progressive muscle weakness in boys.
Diagnosis?
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
109
Presentation:
Small, irregular red spots on buccal or lingual mucosa with blue-white spots.
Diagnosis?
Koplik spots (measles; rubeola virus)
110
Presentation:
Smooth, moist, painless, wart-like white lesions on genitals.
Diagnosis?
Condylomata lata (secondary syphilis)
111
Presentation:
Splinter hemorrhages in fingernails.
Diagnosis?
Bacterial endocarditis
112
Presentation:
"Strawberry tongue"
Diagnosis?
Scarlet fever
| Kawasaki disease
113
Presentation:
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema.
Diagnosis?
Turner syndrome (45, XO)
114
Presentation:
Sudden swollen, painful big toe joint, tophi.
Diagnosis?
Gout (hyperuricemia)
115
Presentation:
Swollen gums, mucosal bleeding, poor wound healing, petechiae.
Diagnosis?
Scurvy (vitamin C deficiency)
116
Presentation:
Swollen, hard, painful finger joints.
Diagnosis?
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
117
Presentation:
Systolic ejection murmur (crescendo-decrescendo).
Diagnosis?
Aortic stenosis
118
Presentation:
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformation, GI bleeding, hematuria.
Diagnosis?
Osler-Weber-Rendu syndrome
119
Presentation:
Thyroid and parathyroid tumors, pheochromocytoma.
Diagnosis?
MEN 2A (autosomal dominant RET mutation)
120
Presentation:
Thyroid tumors, pheochromocytoma, ganglioneuromatosis.
Diagnosis?
MEN 2B (autosomal dominant RET mutation)
121
Presentation:
Toe extension or fanning upon plantar scrape.
Diagnosis?
Babinski sign (UMN lesion)
122
Presentation:
Unilateral facial drooping involving forehead.
Diagnosis?
LMN facial nerve palsy
123
Presentation:
Urethritis, conjunctivitis, arthritis in a male.
Diagnosis?
Reactive arthritis associated with HLA-B27
124
```
Presentation:
Vascular birthmark (port-wine stain) of the face.
```
Diagnosis?
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
125
Presentation:
Vomiting blood following gastroesophageal lacerations.
Diagnosis?
Mallory-Weiss syndrome (alcoholic and bulimic patients)
126
Presentation:
Weight loss, diarrhea, arthritis, fever, adenopathy.
Diagnosis?
Whipple disease (Tropheryma whipplei infection)
127
Presentation:
"Worst headache of my life".
Diagnosis?
Subarachnoid hemorrhage
