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Rapid review > rapid review- classical presentation > Flashcards

rapid review- classical presentation Flashcards

1
Q

Gout, intellectual disability, self-mutilating behavior in a boy

A

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

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2
Q

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

A

Primary ciliary dyskinesia or Kartagener syndrome (dynein arm defect affecting cilia)

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3
Q

Blue sclera, multiple fractures, dental problems, conductive hearing loss

A

Osteogenesis imperfecta (type I collagen defect)

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4
Q

Elastic skin, hypermobility of joints,increased bleeding tendency

A

Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

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5
Q

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

A

Marfan syndrome (fibrillin defect)

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6
Q

Arachnodactyly, pectus deformity, lens dislocation (downward)

A

Homocystinuria (autosomal recessive)

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7
Q

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

A

McCune-Albright syndrome (Gs-protein activating mutation)

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8
Q

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insuficiency, infertility/subfertility

A

Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)

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9
Q

Calf pseudohypertrophy

A

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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10
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy (Gowers sign)

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11
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

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12
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

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13
Q

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

A

Patau syndrome (trisomy 13)

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14
Q

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

A

Edwards syndrome (trisomy 18)

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15
Q

Single palmar crease, intellectual disability

A

Down syndrome

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16
Q

Microcephaly, high-pitched cry, intellectual disability

A

Cri-du-chat (cry of the cat) syndrome

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17
Q

Confusion, ophthalmoplegia/nystagmus, ataxia

A

Wernicke encephalopathy (add confabulation/memory loss for Korsakoff syndrome)

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18
Q

Dilated cardiomyopathy/high-output heart failure, edema, alcoholism or malnutrition

A

Wet beriberi (thiamine [vitamin B1] deficiency)

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19
Q

Burning feet syndrome

A

Vitamin B5 deficiency

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20
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin [vitamin B3] deficiency)

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21
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs

A

Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis); tea and toast diet

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22
Q

Bowlegs (children), bone pain, and muscle weakness

A

Rickets (children), osteomalacia (adults); vitamin D deficiency

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23
Q

Hemorrhagic disease of newborn withincreased PT,increased aPTT

A

Vitamin K deficiency

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24
Q

Intellectual disability, musty body odor, hypopigmented skin, eczema

A

Phenylketonuria

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25
Q

Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air

A

Alkaptonuria (homogentisate oxidase deficiency; ochronosis)

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26
Q

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

A

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

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27
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

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28
Q

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

A

McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

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29
Q

“Cherry-red spots” on macula

A

Tay-Sachs (ganglioside accumulation; no hepatosplenomegaly); Niemann-Pick disease (sphingomyelin accumulation; hepatosplenomegaly); central retinal artery occlusion

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30
Q

Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises

A

Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency)

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31
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia (decreased LDL receptor signaling)

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32
Q

Recurrent Neisseria infection

A

Terminal complement deficiencies (C5-C9)

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33
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease (X-linked agammaglobulinemia)

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34
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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35
Q

Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, increased eosinophils

A

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

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36
Q

Late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections

A

Leukocyte adhesion deficiency (type 1; defective LFA-1 integrin)

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37
Q

Recurrent infections and granulomas with catalase positive organisms

A

Chronic granulomatous disease (defect of NADPH oxidase)

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38
Q

Fever, vomiting, diarrhea, desquamating rash following the use of nasal pack or tampon

A

Staphylococcal toxic shock syndrome

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39
Q

“Strawberry tongue”

A

Scarlet fever (sandpaper rash); Kawasaki disease (lymphadenopathy, high fever for 5 days)

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40
Q

Colon cancer associated with infective endocarditis

A

Streptococcus bovis

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41
Q

Flaccid paralysis in newborn after ingestion of honey

A

Clostridium botulinum infection (floppy baby syndrome)

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42
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

Clostridioides difficile infection

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43
Q

Tonsillar pseudomembrane with “bull’s neck” appearance

A

Corynebacterium diphtheria infection

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44
Q

Back pain, fever, night sweats

A

Pott disease (vertebral TB)

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45
Q

Adrenal insufficiency, fever, DIC

A

Waterhouse-Friderichsen syndrome (meningococcemia)

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46
Q

Red “currant jelly” sputum in patients with alcohol overuse or diabetes

A

Klebsiella pneumoniae pneumonia

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47
Q

Large rash with bull’s-eye appearance

A

Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)

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48
Q

Ulcerated genital lesion

A

Nonpainful, indurated: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)

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49
Q

Smooth, moist, painless, wartlike white lesions on genitals

A

Condylomata lata (2° syphilis)

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50
Q

Pupil accommodates but doesn’t react to light

A

Neurosyphilis (Argyll Robertson pupil)

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51
Q

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

A

Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)

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52
Q

Dog or cat bite resulting in infection (cellulitis, osteromyelitis)

A

Pasteurella Multocida (cellulitis at inoculation site)

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53
Q

Atypical “walking pneumonia” with x-ray looking worse than the patient

A

Mycoplasma pneumoniae infection

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54
Q

Rash on palms and soles

A

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

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55
Q

Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia

A

Mucor or Rhizopus fungal infection

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56
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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57
Q

Pruritus, serpiginous rash after walking barefoot

A

Hookworm (Ancylostoma spp, Necator americanus)

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58
Q

Child with fever later develops red rash on face that spreads to body

A

Erythema infectiosum/ fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)

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59
Q

Fever, cough, conjunctivitis, coryza, diffuse rash

A

Measles

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60
Q

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

A

Koplik spots (measles [rubeola] virus)

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61
Q

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

Aortic regurgitation

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62
Q

Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus

A

aortic stenosis

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63
Q

Continuous “machinelike” heart murmur

A

PDA (close with indomethacin; keep open with PGE analogs)

64
Q

Chest pain on exertion

A

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

65
Q

Chest pain with ST depressions on ECG

A

Angina (⊝ troponins) or NSTEMI (⊕ troponins)

66
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)

67
Q

distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

68
Q

Painful, raised red lesions on pads of fingers/toes

A

Osler nodes (infective endocarditis, immune complex deposition)

69
Q

Painless erythematous lesions on palms and soles

A

Janeway lesions (infective endocarditis, septic emboli/ micro-abscesses)

70
Q

Splinter hemorrhages in fingernails

A

Infective endocarditis

71
Q

Retinal hemorrhages with pale centers

A

Roth spots (infective endocarditis)

72
Q

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

A

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

73
Q

Polyuria (water diuresis), polydipsia

A

Primary polydipsia, diabetes insipidus (central, nephrogenic)

74
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome (severe postpartum hemorrhage leading to pituitary infraction)

75
Q

Heat intolerance, weight loss, palpitations

A

Hyperthyroidism

76
Q

Cold intolerance, weight gain, brittle hair

A

Hypothyroidism

77
Q

Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue

A

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

78
Q

Facial muscle spasm upon tapping

A

Chvostek sign (hypocalcemia)

79
Q

Carpal spasm upon inflation of BP cuff

A

Trousseau sign (hypocalcemia)

79
Q

Rapid, deep, labored breathing/hyperventilation

A

Diabetic ketoacidosis (Kussmaul respirations)

80
Q

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

A

Chronic 1° adrenal insufficiency (Addison disease) leading to increased ACTH and increased MSH

81
Q

Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy

A

Acute adrenal insufficiency (adrenal crisis)

82
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN1 (autosomal dominant MEN1 mutation)

83
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN2A (autosomal dominant RET mutation)

84
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN2B (autosomal dominant RET mutation)

85
Q

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

A

Carcinoid syndrome (increased urinary 5-HIAA)

86
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

87
Q

Vomiting blood following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)

88
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

89
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal metastasis)

90
Q

Hematemesis, melena

A

Upper GI bleeding (eg, peptic ulcer disease)

91
Q

Hematochezia

A

Lower GI bleeding (eg, colonic diverticulosis)

92
Q

Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea

A

Whipple disease (Tropheryma whipplei)

93
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

94
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

95
Q

Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia

A

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased breast/GI cancer risk)

96
Q

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

A

Gardner syndrome (subtype of FAP)

97
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Absent UDP-glucuronosyltransferase

98
Q

Golden brown rings around peripheral cornea

A

Wilson disease (Kayser-Fleischer rings due to copper accumulation)

99
Q

Female, fat (obese), fertile (multiparity), forty, fair

A

Cholelithiasis (gallstones)

100
Q

Painless jaundice with enlarged gallbladder

A

Cancer of pancreatic head obstructing the bile duct

101
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

102
Q

Short stature, café-au-lait spots, thumb/radial defects, incidence of tumors/leukemia, aplastic anemia

A

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

103
Q

Red/pink urine, fragile RBCs

A

Paroxysmal nocturnal hemoglobinuria

104
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

105
Q

Petechiae, mucosal bleeding, prolonged bleeding time

A

Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP, uremic platelet dysfunction)

106
Q

Fever, night sweats, weight loss

A

B symptoms of malignancy

107
Q

Skin patches/plaques, Pautrier microabscesses, atypical T cells

A

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

108
Q

Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position

A

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury)

109
Q

Anterior drawer sign ⊕

A

Anterior cruciate ligament injury

110
Q

Bone pain, bone enlargement, long bone chalk-stick fractures

A

Osteitis deformans (Paget disease of bone,osteoblastic and osteoclastic activity)

111
Q

Swollen, hard, painful finger joints in an elderly individual, pain worse with activity

A

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

112
Q

Sudden swollen/painful big toe joint, tophi

A

Gout/podagra (hyperuricemia)

113
Q

Dry eyes, dry mouth, arthritis

A

Sjögren syndrome (autoimmune destruction of exocrine glands)

114
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

115
Q

“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female

A

Systemic lupus erythematosus

116
Q

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

A

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

117
Q

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

A

Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)

118
Q

Painful fingers/toes changing color from white to blue to red with cold or stress

A

Raynaud phenomenon (vasospasm in extremities)

119
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

120
Q

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

A

Lichen planus

121
Q

Dorsiflexion of large toe with fanning of other toes upon plantar scrape

A

Babinski sign (UMN lesion)

122
Q

Truncal ataxia, nystagmus, head tilting, fall towards injured side

A

Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement)

123
Q

Hyperphagia, hypersexuality, hyperorality

A

Klüver-Bucy syndrome (bilateral amygdala lesion)

124
Q

Resting tremor, athetosis, chorea

A

Basal ganglia lesion

125
Q

Dysphagia, hoarseness,gag reflex, nystagmus, ipsilateral Horner syndrome

A

Lateral medullary (Wallenberg) syndrome (posterior inferior cerebellar artery lesion)

126
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)

127
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

128
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

129
Q

Urinary incontinence, gait apraxia, cognitive dysfunction

A

Normal pressure hydrocephalus

130
Q

Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia

A

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

131
Q

Relapsing and remitting nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

A

Multiple sclerosis

132
Q

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

A

Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)

133
Q

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

A

Neurofibromatosis type I

134
Q

Vascular birthmark (port-wine stain) of the face

A

Nevus flammeus (benign, but associated with Sturge- Weber syndrome)

135
Q

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

A

von Hippel-Lindau disease (deletion of VHL on chromosome 3p)

136
Q

Bilateral vestibular schwannomas

A

Neurofibromatosis type II

137
Q

Hyperreflexia, hypertonia, Babinski sign present

A

UMN lesion

138
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

LMN lesion

139
Q

Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy

A

Friedreich ataxia

140
Q

Unilateral facial drooping involving forehead

A

LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead

141
Q

Episodic vertigo, tinnitus, sensorineural hearing loss

A

Ménière disease

142
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

143
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)

144
Q

“Waxing and waning” level of consciousness (acute onset),attention span,level of arousal

A

Delirium (usually 2° to other cause)

145
Q

Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets

A

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

146
Q

Periorbital and/or peripheral edema, proteinuria (> 3.5 g/ day), hypoalbuminemia, hypercholesterolemia

A

Nephrotic syndrome

147
Q

Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus

A

Alport syndrome (mutation in type IV collagen)

148
Q

Wilms tumor, macroglossia, organomegaly, hemihyperplasia, omphalocele

A

Beckwith-Wiedemann syndrome (WT2 mutation)

149
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

A

Turner syndrome (45,XO)

150
Q

Ovarian fibroma, ascites, pleural effusion

A

Meigs syndrome

151
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

152
Q

Fibrous plaques in tunica albuginea of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

153
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar [tobacco smoking] or panacinar [α1-antitrypsin deficiency])

154
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hypertrophy and hyperplasia of mucus-secreting glands, “blue bloater”)

155
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

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