Clinical Presentation/Diagnois or Disease Flashcards
(118 cards)
1
Q
Abdominal Pain, ascites, Hepatomegaly
A
Budd-Chiari syndrome( posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial hypercholesterolemia ( decreased LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen syndrome (meningococcemia)
4
Q
Anterior “drawer sign”
A
Anterior cruciate ligament injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
2ndary to erythropoietin injection
7
Q
Back pain, fever, night sweats, weight loss
A
Pott disease (vertebral TB)
8
Q
Bilateral hilar adenopathy, uveitis
A
Sarcoidosis (noncaseating granulomas)
9
Q
Blue sclera
A
Osteogenesis imperfecta (type I collagen defect)
10
Q
Bluish line on gingiva
A
Burton line(lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget disease of bone ( increased osteoblastic and osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic regurgitation
13
Q
“Butterfly” facial rash and Raynaud phenomenon in a young female
A
Systemic lupus erythematosus
14
Q
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
A
Neurofibromatosis type I( +pheochromocytoma, optic gliomas)
15
Q
Cafe-au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormality
A
McCune-Albright syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular dystrophy ( most commonly Duchenee): X-linked recessive deletion of dystrophin gene
17
Q
“Cherry-red spots” on macula
A
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation, central retinal artery occlusion
18
Q
Chest pain on exertion
A
Angina( Stable: with moderate exertion; unstable: with minimal exertion)
19
Q
Chest pain, pericardial effusion/friction rub/ persistent fever following MI
A
Dressler syndrome ( autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
20
Q
Child uses arms to stand up from squat
A
Gowers sign (Duchenee muscular dystrophy)
21
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” (erthema infectiosum/fifth disease: parvovirus B19)
22
Q
Chorea, dementia, caudate degeneration
A
Huntington disease ( autosomal dominant CAG repeat expansion)
23
Q
Chronic exercise intolerance with myalgia, fatique, painful cramps, myoglobinuria
A
McArdle disease ( muscle glycogen phosphorylase deficiency)
24
Q
Cold intolerance
A
Hypothyoidism
25
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF; bilateral ( multiple sclerois), unilateral (stroke)
26
Coninous "machine-like" murmur
PDA (close with indomethacine; open or maintain with misoprostol)
27
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease {pretibial})
28
Infant with hypoglycemia, failure to thrive and hepatomegaly
Cori disease ( debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
29
Dark purple skin/mouth modules in a patients with AIDS
Kaposi sarcoma, associated with HHV-8
30
Deep, Labored breathing/Hyperventilation
Kussmaul respiration (diabetic ketoacidosis)
31
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
32
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)
33
Dog or cat bit resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
34
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autoimmune destruction of exocrine glands)
35
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma
36
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (trype III collage defect)
37
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
38
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + maliganant T cells in blood)
39
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
40
Fat, female, forty and fertile
Cholelithiasis (gallstones)
41
Fever, Chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
42
Fever, Cough, conjuctivitis, coryza, diffuse rash
Measles
43
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
44
Fibrous plaques in soft tissue of penis
Peyronie disease ( connective tissue disorder)
45
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
46
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
47
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk- mainly GI
48
Hepatosplenomegaly, osteoprosis, neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
49
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
50
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluber-Bucy syndrome (bilateral amygdala lesion)
51
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
52
Hyporeflexia, hypotonia, atrophy, fasiculations
LMN damage
53
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
54
Indurated, ulcerated genital lession
nonpainful: chancre ( primary syphilis, Treponema pallidum)
| Painful, with exudate: chancroid (Haemophilus ducreyi)
55
Infant with cleft lip/palate, microcephaly or holoprosencephaly, cutis aplasia
Pataue syndrome (trisomy 13)
56
Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
57
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
58
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
59
Large rash with bull's-eye appearance
Erythema chronicum migrans from Ixodes tick bite ( Lyme disease: Borrelia)
60
Lucid interval after traumatic brain injury
Epidural hematoma ( middle meningeal artery reupture)
61
Male child, recurrent infections, no mature B-cells
Bruton disease ( X-linked agammaglobulinemia)
62
Mucosal bleeding and prolong bleeding time
Glanzmann thromblasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa
63
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
64
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
65
Myopathy ( infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal a-1,4-glucosidase deficiency)
66
Neonate with arm paralysis following difficult birth
Erb-Duchenee palsy (superior trunk (C5-6) bracial plexus injury: "waiters tip")
67
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infraction)
68
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
69
Oscillating slow/fast breathing
Cheyne-Stokes respirations ( central apnea in CHF or increase intracranial pressure)
70
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease ( autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
71
Painful, pale, cold fingers/toes
Raynaud phenomenon (vasospasm in extremities)
72
Painful, raised red lesions on pad of fingers/toes
Osler Nodes (infective endocarditis, immune complex deposition
73
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
74
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
75
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
76
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant)
77
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
78
Pink complexion, dyspnea, hyperventilation
"Pink puffer" (emphysema: centriacinar [smoking], panacincar [a1-antitrypsin deficiency])
79
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (proximal tubular reabsorption defect)
80
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
81
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
82
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
83
Rapidly progressive leg weakness that ascend following GI/upper respiratory infection
Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
84
Rash on palms and soles
Coxsackie A, 2ndary syphilis, Rocky Mountain spotted fever
85
Reccurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormaility)
86
Red "currant jelly" sputum in alcholic or diabetic patients
klebsiella pneumoniae
87
Red "currant jelly" stuools
Acute mesenteric ischemia (adults), intussusception (infants)
88
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underyling neoplasm)
89
Red urine in the morning, fragile RBC's
Paroxysmal nocturnal hemoglobinuria
90
Renal cell carinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hoppel-Lindau disease (dominant tumor suppresoor gene mutation)
91
Resting tremor, rigidity, akinesia, postural instablitity
Parkinson disease (nigrostriatal dopamine depletion)
92
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
93
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia
94
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
95
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
96
Short stature, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia ( gentic loss of DNA crosslink repair: often progresses to AML)
97
Single palmar crease
Down syndrome
98
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
99
Skin hyperpigmentation, hypotension, fatigue
Addison disease ( primary adrenocortical insufficiency causes increased ACTH and increased a-MSH production)
100
Slow, progressive muscle weakness in boys
Beck muscular dystrophy( X-linked missense mutation in dystrophin; less severe than Duchenne)
101
Small, irregular red spots on buccal/lingual mucoas with blue-white centers
Koplik spots (measles; rebeola virus)
102
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata ( 2ndary syphilis)
103
Splinter hemorrhages in fingernails
Bacterial endocarditis
104
"Strawberry tongue"
Scarlet fever, Kawasaki disease, toxic shock syndrome
105
streak ovaries, congenital heart disease, horeseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome ( 45, XO)
106
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
107
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy( vitamin C deficiency: can't hydroxylate proline/lysine for collage synthesis)
108
Swollen, hard, painful finger joints
Osteoarthritis ( osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
109
Systolic ejection murmur (crescendo-decrescendo)
Aortic valve stenosis
110
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (autosomal dominant ret mutation)
111
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant ret mutation)
112
Toe extension/fanning upon plantar scrape
Babinski sign ( UMN lesion)
113
Unilateral facial drooping involving forehead
Facial nerve ( LMN CN VII palsy)
114
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
115
Vascular birthmark (port wine stain)
Hemangioma ( benign, but associated with Struge-Weber syndrome
116
Vomiting blood following gastroesphageal lacerations
Mallory-Weiss syndrome ( alcoholic and bulimic patients)
117
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
118
"Worst headache of my life"
Subarachnoid hemorrhage
