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Rapid Review > Classic Presentations > Flashcards

Classic Presentations 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 sinusitis, bronchiectasis, infertility

A

Kartagener syndrome

Dynein arm defect affecting cilia

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3
Q

Blue sclera

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), aortic dissection, hyperflexible joints

A 
Marfan syndrome ("look UP at the ceiling FAN")
Fibrillin defect
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6
Q

Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalitie

A

McCune-Albright syndrome
Mosaic G-protein signaling mutation
NOTE: lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism

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7
Q

Calf pseudohypertrophy

A

Muscular dystrophy

Most commonly Duchenne, due to x-linked recessive frameshift mutation of dystrophin gene

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8
Q

Child uses arms to stand up from squat

A

Duchenne muscular dystrophy

Gowers sign

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9
Q

Slow, progressive muscle weakness in boys

A

Becker muscular dystrophy

X-linked missense mutation in dystrophin; less severe than Duchenne

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10
Q

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

A

Patau syndrome

Trisomy 13

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11
Q

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

A

Edwards syndrome

Trisomy 18

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12
Q

Single palmar crease

A

Down syndrome

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13
Q

Dilated cardiomyopathy, edema, alcoholism, or malnutrition

A

Wet beriberi (thiamine - vitamin B1 - deficiency)

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14
Q

Dermatitis, dementia, diarrhea

A

Pellagra (niacin - vitamin B3 - deficiency)

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15
Q

Swollen gums, mucosal bleeding, poor wound healing, petechiae

A

Scurvy (vitamin C deficiency - can’t hydroxylate proline/lysine for collagen synthesis)

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16
Q

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

A

McArdle disease

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17
Q

Infant with hypoglycemia, hepatomegaly

A

Cori disease

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18
Q

Myopathy, exercise intolerance

A

Pompe disease

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19
Q

Cherry-red spot on macula

A

Tay-Sachs or Niemann-Pick, central retinal artery occlusion

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20
Q

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

A

Gaucher disease

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21
Q

Achilles tendon xanthoma

A

Familial hypercholesterolemia

NOTE: AD

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22
Q

Anaphylaxis following blood transfusion

A

IgA deficiency

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23
Q

Male child, recurrent infections, no mature B cells

A

Bruton disease

X-linked agammaglobulinemia

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24
Q

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE

A

Hyper-IgE syndrom

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25
Q

Strawberry tongue

A

Scarlet fever

Kawasaki disease

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26
Q

Adrenal hemorrhage, hypotension, DIC

A

Waterhouse-Friderichsen syndrome

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27
Q

Red “current jelly” sputum in alcoholic or diabetic patients

A

Klebsiella pneumoniae PNA

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28
Q

Large rash with bull’s-eye appearance

A

Erythema chronicum migrans from Ixodes tick bite (Lyme)

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29
Q

Indurated, ulcerated genital lesion

A

Nonpainful: chancre (primary syphilis, treponema pallidum)

Painful with exudate: chancroid (H. ducreyi)

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30
Q

Pupil accommodates but doesn’t react

A

Neurosyphilis

Argyll Robertson pupil

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31
Q

Smooth, moist, painless, wart-like white lesions on genitals

A

Condylomata lata (secondary syphilis)

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32
Q

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

A

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release)

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33
Q

Dog or cat bite resulting in infection

A

Pasteurella multocida

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34
Q

Rash on palms and soles

A

Coxsackie A
Secondary syphilis
Rocky Mountain spotted fever

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35
Q

Black eschar on face of patient with DKA

A

Mucor or rhizopus fungal infection

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36
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Congenital toxoplasmosis

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37
Q

Fever, cough, conjunctivitis, croyza, diffuse rash

A

Measles

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38
Q

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

A

Koplik spots

Measles/rubeola virus

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39
Q

Back pain, fever, night sweats

A

Pott disease

vertebral TB

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40
Q

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

A

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

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41
Q

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use

A

C diff infection

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42
Q

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

A

Aortic regurgitation

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43
Q

Systolic ejection murmur (crescendo-decrescendo)

A

Aortic stenosis

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44
Q

Continuous machine-like heart murmur

A

PDA

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45
Q

Chest pain on exertion

A

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

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46
Q

Chest pain with ST depressions on EKG

A

Angina or NSTEMI

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47
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)
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48
Q

Painful, raised red lesions on pads of fingers/toes

A 
Osler nodes
(Infective endocarditis, immune complex deposition)
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49
Q

Painless erythematous lesions on palms and soles

A 
Janeway lesions
(Infective endocarditis, septic emboli/microabscesses)
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50
Q

Splinter hemorrhages in fingernails

A

Bacterial endocarditis

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51
Q

Retinal hemorrhages with pale centers

A 
Roth spots
(c/w bacterial endocarditis)
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52
Q

Distant heart sounds, distended neck veins, hypotension

A

Beck triad of cardiac tamponade

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53
Q

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

A

Kawasaki disease

treat with IVIG and ASA

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54
Q

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

A

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

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55
Q

Telangiectasias, recurrent epistaxis, skin discoloration, AVM, GI bleeding, hematura

A

Hereditary hemorrhagic telengiectasia
(Osler-Weber-Rendu syndrome)
NOTE: AD

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56
Q

Skin hyperpigmentation, hypotension, fatigue

A

Primary adrenocortical insufficiency (eg: Addison disease cuasing increase in ACTH and a-MSH production)

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57
Q

Cold intolerance

A

Hypothyroidism

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58
Q

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

A

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

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59
Q

Facial muscle spams upon tapping

A

Chvostek sign

hypocalcemia

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60
Q

No lactation postpartum, absent menstruation, cold intolerance

A

Sheehan syndrome

postpartum hemorrhage leading to pituitary infarction

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61
Q

Deep, labored breathing/hyperventilation

A

DKA

Kussmaul respirations

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62
Q

Cutaneous flushing, diarrhea, bronchospasm

A

Carcinoid syndrome

right-sided cardiac valvular lesions, increase in 5-HIAA

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63
Q

Pancreatic, pituitary, parathyroid tumors

A

MEN 1

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64
Q

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

A

MEN 2B (autosomal dominant RET mutation)

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65
Q

Thyroid and parathyroid tumors, pheochromocytoma

A

MEN 2A (autosomal dominant RET mutation)

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66
Q

Jaundice, palpable distended non-tender gallbladder

A

Courvoisier sign (distal malignant obstruction of biliary tree)

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67
Q

Painless jaundice

A

Cancer of the pancreatic head obstructing bile duct

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68
Q

Hematemesis following gastroesophageal lacerations

A

Mallory-Weiss syndrome (alcoholic and bulimic patients)

69
Q

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

A

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

70
Q

Enlarged, hard left supraclavicular node

A

Virchow node (abdominal met)

71
Q

Weight loss, diarrhea, arthritis, fever, adenopathy

A

Whipple diesae (T whipplei)

72
Q

Severe RLQ pain with palpation of LLQ

A

Rovsing sign (acute appendicitis)

73
Q

Severe RLQ pain with deep tenderness

A

McBurney sign (acute appendicitis)

74
Q

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

A

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

75
Q

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

A

Gardner syndrome (subtype of FAP)

76
Q

Abdominal pain, ascites, hepatomegaly

A

Budd-Chiari syndrome (posthepatic venous thrombosis)

77
Q

Severe jaundice in neonate

A

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

78
Q

Golden brown rings around peripheral cornea

A

Wilson disease

Kayser-Fleischer rings due to coper accumulation

79
Q

Fat, female, forty, fertile, familial

A

Cholelithiasis

gallstones

80
Q

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

A

Fanconi anemia

genetic loss of DNA crosslink repair, often progresses to AML

81
Q

Red urine in the morning, fragile RBCs

A

paroxysmal nocturnal hemoglobinuria

82
Q

Painful blue fingers/toes, hemolytic anemia

A

Cold agglutinin disease

autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL

83
Q

Mucosal bleeding and prolonged bleeding time

A

Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

84
Q

Fever, night sweats, weight loss

A

B symptoms of lymphoma

85
Q

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

A

Mycosis fungiodes (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides and malignant T cells in blood)

86
Q

WBCs that look “smudged”

87
Q

Athlete with polycythemia

A

secondary to erythropoietin injection

88
Q

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

A

Erb-Duchenne palsy (C5-C6) - brachial plexus injury

89
Q

Anterior “drawer sign” +

90
Q

Bone pain, bone enlargement, arthritis

A

Paget Disease of bone (increased osteoblastic and osteoclastic activity)

91
Q

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

A

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

92
Q

Sudden swollen/painful big toe, tophi

A

Gout/podagra (hyperuricemia)

93
Q

Dry eyes, dry mouth, arthritis

A

Sjogren syndrome (Autoimmune destruction of exocrine glands)

94
Q

Urethritis, conjunctivitis, arthritis in a male

A

Reactive arthritis associated with HLA-B27

95
Q

“Butterfly” facial rash and Raynaud phenomenon in a young female

A

Systemic lupus erythematosus

96
Q

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

A

Reynaud phenomenon (vasospasm in extremities)

97
Q

Anticentromere antibodies

A

Scleroderma (CREST)

98
Q

Dark purple skin/mouth nodules in a patient with AIDS

A

Kaposi sarcoma, associated with HHV-8

99
Q

Anti-desmoglein (anti-desmosome) antibodies

A

Pemphigus vulgaris (blistering)

100
Q

Pruritic, purple, polygonal planar papules and plaques

A

Lichen planus

101
Q

Increased AFP in amniotic fluid/maternal serum

A

Dating error, anencephaly, spina bifida (open neural tube defect)

102
Q

Toe extension/fanning upon plantar scrape

A

Babinski sign (upper motor neuron lesion)

103
Q

Hyperphagia, hypersexuality, hyperorality, hyperdocility

A

Kluver-Bucy syndrome (bilateral amygdala lesion)

104
Q

Lucid interval after traumatic brain injury

A

Epidural hematoma (middle meningeal artery rupture)

105
Q

“Worst headache of my life”

A

Subarachnoid hemorrhage

106
Q

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

A

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

107
Q

Chorea, dementia, caudate degeneration

A

Huntington disease (autosomal dominant CAG repeat expansion)

108
Q

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

109
Q

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

A

Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)

110
Q

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

A

Neurofibromatosis type I

NOTE: AD

111
Q

Vascular birthmark (port-wine stain) of the face

A

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

112
Q

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

A

Von Hippel-Landau disease (autosomal dominant tumor suppressor gene mutation)

113
Q

Bilateral acoustic schwannomas

A

Neurofibromatosis type II

NOTE: AD

114
Q

Hyperreflexia, hypertonia, Babinski sign present

A

Upper motor neuron damage

115
Q

Hyporeflexia, hypotonia, atrophy, fasciculations

A

Lower motor neuron damage

116
Q

Unilateral facial drooping involving forehead

A

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

117
Q

Episodic vertigo, tinnitus, hearing loss

A

Meniere disease

118
Q

Ptosis, miosis, anhidrosis

A

Horner syndrome (sympathetic chain lesion)

119
Q

Conjugate horizontal gaze palsy, horizontal diplopia

A

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

120
Q

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

A

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

121
Q

Bluish line on gingiva

A

Burton line (lead poisoning)

122
Q

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

A

Nephrotic syndrome

123
Q

Hereditary nephritis, sensorineural hearing loss, cataracts

A

Alport syndrome (mutation in Collagen IV)

124
Q

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphadema

A

Turner Syndrome (45, XO)

125
Q

Red, itchy, swollen rash of nipple/areola

A

Paget disease of the breast (sign of underlying neoplasm)

126
Q

Fibrous plaques in soft tissue of penis with abnormal curvature

A

Peyronie disease (connective tissue disorder)

127
Q

Hypoxemia, polycythemia, hypercapnia

A

Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)

128
Q

Pink complexion, dyspnea, hyperventilation

A

Emphysema (“pink puffer,” centriacinar [smoking] or panacinar [alpha1 antitrypsin deficiency])

129
Q

Bilateral hilar adenopathy, uveitis

A

Sarcoidosis (noncaseating granulomas)

130
Q

Dry skin, extreme light sensitivity, skin cancer

Include pathogenesis in answer

A

Xeroderma pigmentosum

2/2 inability to repair DNA pyrimidine dimers caused by UV exposure (mutated nucleotide excision repair)

131
Q

Coarse facial features, gingival hyperplasia, clouded corneas, restricted joint movements, claw hand deformities, kyphoscoliosis, high plasma levels of lysosomal enzymes
(include pathogenesis in answer)

A

I-Cell Disease
Defect in N-acetylglucosaminyl-1-phosphotransferase, leading to failure of the Golgi to phophorylate mannose residues on glycoproteins (decrease mannose6P). Therefore proteins are secreted extracellularly rather than delivered to lysosomes

132
Q

Adrenal gland crisis, coma, death

include pathogenesis in answer

A

Adrenoleukodystrophy
X-linked recessive disorder of beta-oxidation leading to VLCFA buildup in adrenal glands, white (leuko) matter of brain, testes
Disease is progressive

133
Q

Brittle, “kinky” hair, growth retardation, hypotonia

Include pathogenesis in answer

A

Menkes disease
X-linked recessive connective tissue disease caused by impaired copper absorption and transport due to defective Menkes protein (ATP7A). Leads to decreased activity of lysyl oxidase (copper is a necessary cofactor), which produces defective collagen.

134
Q

Myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

A

Myotonic dystrophy type 1
Autosomal dominant with CTG (“cataracts, toupee, gonadal atrophy”) trinucleotide repeat expansion in the DMPK gene
This repeat leads to abnormal expression of myotonin protein kinase

135
Q

Regression in motor, verbal, and cognitive abilities

Seizures, growth failure, ataxia, stereotyped hand-wringing

A

Rett syndrome
Almost exclusively in girls
Most cases are caused by de novo mutation of MECP2 on X chromosome

136
Q

Thymic aplasia (T cell deficiency), parathyroid defects, cardiac defects

A

DiGeorge Syndrome
Microdeletion at 22q11
Due to aberrant development of 3rd and 4th branchial (pharyngeal) pouches

137
Q

Cleft palate, abnormal facies, cardiac defects

A

Velocardiofacial syndrome
Microdeletion at 22q11
Due to aberrant development of 3rd and 4th branchial (pharyngeal) pouches

138
Q

Pellagra-like symptoms (diarrhea, dementia, dermatitis)

A

Hartnup Disease
AR
Deficiency of neutral amino acid (eg tryptophan) transporters in proximal renal tubular cells and on enterocytes, leading to neutral aminoaciduria and decreased absorption from the gut. This causes decreased tryptophan for conversion to niacin
Treat with high-protein diet and nicotinic acid

139
Q

Friction rub

A

Pericarditis

140
Q

Kussmaul breathing

A

Diabetic ketoacidosis

141
Q

Bitot spots

A

Vitamin A deficiency

142
Q

Dendritic corneal ulcers on fluorescein stain of the eye

A

Herpes keratitis

143
Q

Cherry-red spot on the macula with hepatosplenomegaly

A

Niemann-Pick disease

144
Q

Bronze skin and diabetes

A

Hemochromatosis

145
Q

Heliotrope rash (purplish rash on eyelids)

A

Dermatomyositis

146
Q

Clue cells

A

Gardnerella vaginalis infection

147
Q

Meconium ileus

A

Cystic fibrosis

148
Q

Rectal prolapse in infant

A

Cystic fibrosis

149
Q

Cafe-au-lait spot with normal IQ

A

neurofibromatosis

150
Q

Cafe-au-lait spot with mental retardation

A

McCune-Albright syndrome or tuberous sclerosis

151
Q

Left lower quadrant tenderness/rebound

A

Diverticulitis

152
Q

Children who torture animals

A

Conduct disorder

153
Q

Currant jelly stool in children

A

Intussusception

154
Q

Ambiguous genitalia and hypotension

A

21-hydroxylase deficiency

155
Q

Postpartum fever unresponsive to broad-spectrum antibiotics

A

Septic pelvic thrombophlebitis

156
Q

Increased hemoglobin A2 and anemia

A

thalassemia

157
Q

Bilateral hilar adenopathy (particularly in a black patient)

A

Sarcoidosis

158
Q

Koilocytosis

A

HPV or cytomegalovirus

159
Q

Beck’s Triad

A

JVD, muffled heart sounds, hypotensionn

= cardiac tamponade

160
Q

Charcot triad

A

Fever/chills, jaundice, RUQ pain

= cholangitis

161
Q

Courvoisier sign

A

Painless, palpable gallbladder + jaundice

= pancreatic cancer

162
Q

Cullen sign

A

Bluish discoloration of periumbilical area

= pancreatitis with retroperitoneal hemorrhage

163
Q

Cushing reflex

A

Hypertension, bradycardia, and irregular respirations

= high intracranial pressure

164
Q

Grey Turner sign

A

Bluish discoloration of flank

= pancreatitis with retroperitoneal hemorrhage

165
Q

Kehr sign

A

Pain in left shoulder

= ruptured spleen

166
Q

Claudication and atrophy of butt with impotence

A

Leriche syndrome (aka aortoiliac occlusive disease)

167
Q

Elevation of testicle relieves pain

A

Prehn sign

used in epidydimitis vs. torsion

168
Q

Pumping up blood pressure cuff causes carpopedal spasm

A

Trousseau sign = hypocalcemia

Rapid Review (8 decks)

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