FA RR - Clinical Presentation/Disease DX Flashcards
1
Q
Abdominal pain, ascites, hepatomegaly
A
Budd Chiari Syndrome (posthepatic venous thrombosis)
2
Q
Achilles tendon xanthoma
A
Familial Hypercholesterolemia (DEC LDL receptor signaling)
3
Q
Adrenal hemorrhage, hypotension, DIC
A
Waterhouse-Friderichsen Syndrome (meningococcemia)
4
Q
Anterior drawer sign (+)
A
ACL injury
5
Q
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
A
Marfan Syndrome (fibrillin defect)
6
Q
Athlete with polycythemia
A
Secondary 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
10
Q
Bluish line on gingiva
A
Burton Line (lead poisoning)
11
Q
Bone pain, bone enlargement, arthritis
A
Paget Disease of bone (INC osteoblastic & osteoclastic activity)
12
Q
Bounding pulses, diastolic heart murmur, head bobbing
A
Aortic Regurgitation
13
Q
Butterfly facial rash & Raynaud phenomenon in a young female
A
SLE
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 abnormalities
A
McCune-Albright Syndrome (mosaic G-protein signaling mutation)
16
Q
Calf pseudohypertrophy
A
Muscular Dystrophy; MC: Duchenne (XR deletion of dystrophin gene)
17
Q
Cherry red spots on macula
A
Tay-Sachs (ganglioside accumulation)orNiemann-Pick (sphingomyelin accumulation)central retinal artery occlusion
18
Q
Cherry red spots on macula
A
Tay-Sachs = ganglioside accumulationorNiemann-Pick = sphingomyelin accumulationcentral retinal artery occlusion
19
Q
Chest pain on exertion
A
Angina- Stable: with moderate exertion- Unstable: with minimal exertion
20
Q
Chest pain, pericardial effusion/friction rub, persistent fever following MI
A
Dressler Syndrome = AI mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode
21
Q
Child uses arms to stand up from squat
A
Gowers Sign (Duchenne Muscular Dystrophy)
22
Q
Child with fever later develops red rash on face that spreads to body
A
“Slapped cheeks” = Erythema Infectiosum/Fifth Disease: Parvovirus B19
23
Q
Chorea, dementia, caudate degeneration
A
Huntington Disease (AD, CAG repeat expansion)
24
Q
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
A
McArdle Disease (muscle glycogen phosphorylase deficiency)
25
Cold intolerance
Hypothyroidism
26
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; B/L = MS, U/L = stroke)
27
Continuous machine-like heart murmur
PDA Close with Indomethacin Open/maintain with Misoprostol
28
Cutaneous/dermal edema d/t connective tissue deposition
Myxedema (caused by hypothyroidism, Graves Disease [pretibial])
29
Dark purple skin/mouth nodules in a PT with AIDS
Kaposi Sarcoma (associated with HHV-8)
30
Deep, labored breathing/hyperventilation
Kussmaul respirations (DKA)
31
Dermatitis, dementia, diarrhea
Pellagra (Niacin [B3] deficiency)
32
Dilated cardiomyopathy, edema, alcoholism ir malnutrition
Wet beriberi (Thiamine [B1] deficiency)
33
Dog or cat bite resulting in infection
Pasturella multocida (cellulitis at inoculation site)
34
Dry eyes, dry mouth, arthritis
Sjrogen Syndrome = AI 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 (Type III collagen deficit)
37
Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
38
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma)orSezary Syndrome (mycosis fungoides + malignant T cells in blood)
39
Facial muscle spasm upon tapping
Chvostek Sign (hypocalcemia)
40
Fat, female, forty, & fertile
Cholelithiasis (gallstones)
41
Fever, chills, headache, myalgia following Ab treatment for syphilis
Jarisch-Herxheimer Reaction (rapid lysis of spirochetes results in toxin release)
42
Fever, cough, conjunctivitis, 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, XR
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; INC cancer risk, mainly GI)
48
Hepatosplenomegaly, osteoperosis, neurologic symptoms
Gaucher Disease = glucocerebrosidase deficiency
49
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome (mutation incollagen IV)
50
Hyperphagia, hypersexuality, hyperorality hyperdocility
Kluver-Bucy Syndrome = B/L 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 lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)Painful, with exudate: chancroid (Haemophilus ducreyi)
55
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau Syndrome (Trisomy 13)
56
Infant with failure to thrive, hepatosplenomegaly, & neurodegeneration
Niemann-Pick Disease (genetic sphingomyelinase deficiency)
57
Infant with hypoglycemia, failure to thrive, & hepatomegaly
Cori Disease = debranching enzyme deficiencyorVon Gierke Disease = glucose-6-phosphatase deficiency (more severe)
58
Infant with microcephaly, rocker-bottom feet, clenched hands, & structural heart defect
Edwards Syndrome (Trisomy 18)
59
Jaundice, palpable distended non-tender gallbladder
Courvoisier Sign = distal obstruction of biliary tree
60
Large rash with bull's eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme Disease: Borrelia)
61
Lucid interval after traumatic brain injury
Epidural hematoma (MMA rupture)
62
Male child, recurrent infections, no mature B cells
Bruton Disease (X-linked agammaglobulinemia)
63
Mucosal bleeding & prolonged bleeding time
Glanzmann thrombasthenia = defect in platelet aggregation d/t lack of Gp IIb/IIIa
64
Muffled heart sounds, distended neck veins, hypotension
Beck Triad of cardiac tamponade
65
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner Syndrome (subtype of Familial Adenomatous Polyposis)
66
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe Disease = lysosomal alpha-1,4-glucosidase deficiency
67
Neonate with arm paralysis following difficult birth
Erb-Duchenne Palsy (superior trunk [C5-C6] brachial plexus injury; waiter's tip)
68
No lactation postpartum, absent menstruation, cold intolerance
Sheehan Syndrome (pituitary infarction)
69
Nystagmus, intention tremor, scanning speech, B/L internuclear ophthalmoplegia
Multiple Sclerosis
70
Oscillating slow/fast breathing
Cheyne-Stokes respirations (central apnea in CHF or INC ICP)
71
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AI hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
72
Painful, pale, cold fingers/toes
Raynaud Phenomenon (vasospasm in extremities)
73
Painful, raised red lesions on pad of fingers/toes
Osler Nodes (infective endocarditis, immune complex deposition)
74
Painless erythematous lesions on palms and soles
Janeway Lesions (infective endocarditis, septic emboli/microabscesses)
75
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
76
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein Purpura (IgA vasculitis affecting skin & kidneys)
77
Pancreatic, pituitary, parathyroid tumors
MEN I (AD)
78
Hypoxemia, polycythemia, hypercapnia
"Blue bloater" = chronic bronchitis: hyperplasia of mucous cells
79
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
80
Pink complexion, dyspnea, hyperventilation
"Pink puffer" = Emphysema- Centriacinar = smoking- Panacinar = alpha1-antitrypsin deficiency
81
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome = proximal tubular reabsorption defect
82
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome = proximal tubular reabsorption defect
83
Pruritic, purple, polygonal planar papules & plaques (6 Ps)
Lichen Planus
84
Ptosis, miosis, anhydrosis
Horner Syndrome = sympathetic chain lesion
85
Pupil accommodates but doesn't react
Argyll Robertson pupil (neurosyphilis)
86
Rapidly progressive leg weakness that ascends following GI/upper respiratory infection
Guillain-Barre Syndrome = acute AI inflammatory demyelinating polyneuropathy
87
Rash on palms & soles
Coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever
88
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE Syndrome (Job Syndrome: neutrophil chemotaxis abnormality)
89
Red currant jelly sputum in alcoholic or diabetic PTs
Klebsiella pneumoniae
90
Red currant jelly stools
Acute mesenteric ischemia (adults)orIntussusception (infants)
91
Red, itchy, swollen rash of nipple/areola
Paget Disease of breast (sign of underlying neoplasm)
92
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
93
Renal cell carcinoma (B/L), hemangioblastomas, angiomatosis, pheochtomocytoma
von Hippel-Lindau Disease = dominant tumor suppressor gene mutation
94
Resting tremor, rigidity, akinesia, postural instability
Parkinson Disease = nigrostriatal dopamine depletion
95
Retinal hemorrhages with pale centers
Roth Spots = bacterial endocarditis
96
Severe jaundice in neonate
Crigler-Najjar Syndrome = congenital unconjugated hyperbilirubinemia
97
Severe RLQ pain with palpation of LLQ
Rovsing Sign = acute appendicitis
98
Severe RLQ pain with rebound tenderness
McBurney Sign = acute appendicitis
99
Short stature, INC incidence of tumors/leukemia, aplastic anemia
Franconi Anemia = genetic loss of DNA crosslink repair; often progresses to AML
100
Single palmar crease
Down Syndrome
101
Situs invertus, chronic sinusitis, bronchiectasis, infertility
Kartagener Syndrome = dynein arm defect affecting cilia
102
Skin hyperpigmentation, hypotension, fatigue
Addison Disease = primary adrenocortical insufficiency causes INC ACTH & INC alpha-MSH production
103
Slow, progressive muscle weakness in boys
Becker Muscular Dystrophy = X-linked missense mutation in dystrophin; less severe than Duchenne
104
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik Spots = measles; rubeola virus
105
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
106
Splinter hemorrhages in fingernails
Bacterial endocarditis
107
Strawberry tongue
Scarlet FeverKawasaki DiseaseToxic Shock Syndrome
108
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner Syndrome (45 XO)
109
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
110
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy = Vitamin C deficiency (can't hydroxylate proline/lysine for collagen synthesis)
111
Swollen, hard, painful finger joints
Osteoarthritis; osteophytes on:- PIP = Bouchard Nodes- DIP = Heberden Nodes
112
Systolic ejection murmur (cresendo-decresendo)
Aortic valve stenosis
113
Thyroid & parathyroid tumors, pheochromocytoma
MEN 2A (AD ret mutation)
114
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (AD ret mutation)
115
Toe extension/fanning upon plantar scrape
Babinski Sign = UMN lesion
116
U/L facial drooping involving forehead
Facial nerve (LMN CN VII palsy)
117
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
118
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber Syndrome)
119
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss Syndrome (alcoholic & bulemic PTs)
120
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple Disease (Tropheryma whipplei)
121
"Worst headache of my life"
Subarachnoid hemorrhage
