classic presentations Flashcards
(127 cards)
1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyhan syndrome (HGPRT deficiency X-linked recessive)
2
Q
SItus inversus, chronic sinusitis, bronchiectasis, infertility blue sclera
A
Kartagener syndrome (dynein arm defect affecting cilia)
3
Q
Elastic skin, hypermobility of joints, increased bleeding tendency
A
Ehlers-Danlos syndorme (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
4
Q
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
5
Q
Calf psudohypertrophy
A
Muscular dystrophy (most commonly Duchene, due to X-linked recessive frameshift mutation of dystrophin gene)
6
Q
Child uses arms to stand up from squat`
A
Duchenne muscular dystrophy (Gowes sign)
7
Q
Slow, progressive muscle weakness in boys
A
Becher muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
8
Q
Infant with cleft lip/palate, microcephaly of holoprosencephaly, polydactyly, cutis aplasia
A
Patau syndrome (trisome 13)
9
Q
Infant with microcephaly, rocker-botton feet, clenched hands, and structural heart defect
A
Edwards syndrome (trisomy 18)
10
Q
Single palmar crease
A
Down syndrome
11
Q
Dilated cardiomyopathy, edema, alcoholism or malnutrition
A
Wet beriberi (thiamine (B1) deficiency)
12
Q
Dermatitis, dementia, diarrhea
A
Pellagra (niacin (B3) deficiency)
13
Q
Swollen fums, mucosal bleeding, poor wound healing, petechiae
A
Scurvey (vit C deficiency: Can’t hydroxylate proline/ lysine for collagen synthesis)
14
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
15
Q
Infant with hypoglycemia, hepatomegaly
A
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphage deficiency, more severe)
16
Q
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
A
Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)
17
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion.
18
Q
Hepatosplenomegaly, Pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
A
Gaucher disease (glucocerebrosidase deficiency)
19
Q
Achilles tendon xanthoma
A
Familial hypercholsterolemia (decreased LDL receptor signaling)
20
Q
Anaphylaxis following blood transfusion
A
IgA deficiency
21
Q
Male child, recurrent infections, no mature B cells
A
Bruton disease (X-linked agammaglobulinemia)
22
Q
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
A
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
23
Q
Strawberry tongue
A
Scarlet fever, Kawasaki disease
24
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrom (meningococcemia)
25
Red currant jelly sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
26
large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (lyme disease: borrelia)
27
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphillis, Treponema pallidum). Painful, with exudate: chancroid (Haemophilus ducreyi)
28
Pupil accomodates but doesn't react
Neurosyphillis (Argyll Robertson pupil)
29
Smooth, moist, painless, wart-like white lesions on genitals
Condoylomata lata (secondary syphilis)
30
Fever, chills headache, myalgia following antibiotic treatment for shyphillis
Jarish-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like resease)
31
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
32
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain spotted fever
33
Black eschar on face of patient with diabetic ketoacidosis
mucor or rhizopus fungal infection
34
chorioretinitis, hydrocephalus, intracranial calcifications
congenital toxoplasmosis
35
Fever, cough, conjunctivits, coryza, diffuse rash
Measles
36
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles (rubeola) virus)
37
back pain, fever, night sweats
Pott disease (vertebral TB)
38
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth diesease (slapped cheeks appearance, caused by parvovirus B19)
39
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficle infection
40
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
41
systolic ejection murmur (crescendo-decrescendo)
aortic stenosis
42
Continuous "machine like' heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
43
Chest pain on exertion
Angina (stable; with moderate exertion; unstable with minimal exertion or at rest
44
Chest pain with ST depression on ECG
Angina (- trponins) or NSTEMI (+ troponins)
45
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis, 2 weeks to several months after acute episode)
46
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
47
Painless erythematous lesions on plams and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
48
Splinter hemorrhages in fingernails
Bacterial endocarditis
49
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis
50
Distant heart sounds, Distended neck veins, hypotension
Beck triad of cardiac tamponade
51
Cervical lymphoadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue; hand-foot changes
Kawasaki disease (treat with IVIG and aspirin)
52
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematurua
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
53
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia (Osler-Weber-REndu syndrome)
54
Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (eg: Addison disease) causes increased ACTH and increased alpha MSH production)
55
Cold intolerance
Hypothyroidism
56
Cutaneous/dermal edema due to deposition of mucopolysachharides in connective tissue
myxedema (caused by hypothyroidism, Graves disease (pretibial))
57
facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
58
no lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
59
Deep, labored breathing/hypoerventilation
Diabetic ketoacidosis (Kussmaul respirations)
60
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, Increased 5 HIAA)
61
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
62
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, marfanoid habitus
MEN 2B (AD RET mutation)
63
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (AD RET mutation)
64
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
65
Painless jaundice
Cancer of pancreatic head obstructing bile duct
66
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
67
Dyshphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
68
Enlarged, hard left supraclavicular node
Virchouw node (abdominal metastasis)
69
Weight loss, diarrhea, arthritis, fever adenopathy
Whipple disease (Tropheryma whipplei)
70
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
71
Severe RLQ pain with deep tenderness
McBurney sigh (acute appendicitis)
72
Hemartomatous GI polyps, hyperpigmentation of mouth/feet/hands.genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
73
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
74
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
75
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
76
Golden brown rings round peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
77
Fat, female, forty, fertile, familial
Cholethiasis (gallstones)
78
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)
79
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
80
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin diesase (autoimminue hemolytic anemia caused by Mycoplasma pnuemoniae, infections mononucleosis, CLL)
81
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GPIIb/IIIa)
82
Fever, night sweats, weight loss
B symptoms of lymphoma
83
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
84
WBCs that look smudged
CLL
85
Athlete with polycythemia
secondary to erythropoietin injection
86
Neonate with arm paralysis following difficult birth, arm in waiter's tip position
Erb-Duchenne palsy (superior trunk (c5-c6) brachial plexus injury
87
Anterior drawer sign +
ACL injury
88
Bone pain, bone enlargement, arthritis
Paget disease of bone (increase osteoblastic and osteoclastic activity)
89
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Osteoarthritis (osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes))
90
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
91
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
92
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
93
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
94
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon (vasospaasm in extremities)
95
Anticentromere antibodies
Scleroderma (CREST)
96
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
97
Anti-desmoglein (anti-desmosome) antibodies
Pemphigus vulgaris (blistering)
98
Pruritic, purple, polygonal planar papules and plaques (6P's)
Lichen planus
99
Increased AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida (open neural tube defects)
100
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
101
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
102
Lucid interval after TBI
Epidural hematoma (Middle Meningeal Artery rupture)
103
Worst headache of my life
SAH
104
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
105
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
106
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple Sclerosis
107
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating pilyradiculopathy subtype)
108
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
NF 1
109
vascular birthmark (port-wine stain) of the face
Nevus flammeus (bening, but associated with Sturge- Weber syndrome)
110
RCC (bilateral), hemangioblastomas, angiomatosis, pheochromatocytoma
VHL disease (dominant tumor suppressor gene mutation)
111
Bilateral acoustic schwannomas
NF 2
112
hyperreflexia, hypertonia, Babinski sign present
UMN damage
113
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
114
Unilateral facial dropping involving forehead
LMN facial nerve (CN VII) palsy, UMN lesions spare the forehead
115
Episodic vertigo, tinnitus, hearing loss
Meniere disease
116
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
117
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
118
Polyuria, RTA II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
119
Bluish line on gingiva
Burton line (lead poisoning)
120
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbunemia, hypercholesterolemia
Nephrotic syndrome
121
hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
122
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,XO)
123
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
124
Fibrous plaques in soft tissues of penis with abnormal curvature
Peyronnie disease (connective tissue disorder)
125
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, blue bloater)
126
Pink complexion, dyspnea, hyperventilation
Emphysema ('pink puffer', centriacinar (smoking) or panacinar (alpha 1 antitrypsin deficiency)
127
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
