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Royal College Exam > Spot Diagnosis > Flashcards

Spot Diagnosis Flashcards

(63 cards)

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1
Q
A

perianal strep

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2
Q
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Congenital rubella syndrome

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3
Q
A

congnital rubella syndrome

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4
Q
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gum changes due to scurvy (vit C deficiency)

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5
Q
A

mastoiditis with post auricular abscess

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6
Q

what is this is, and how does it present?

A

cholesteatoma (presentation: recurrent foul-smelling otorrhea, responds to ototopicals)

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7
Q

what is this, and what is your management?

A

septal hematoma, consult ENT for drainage

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8
Q
A

subglottic hemangioma

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9
Q
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button battery - requires emergent removal! (step sign)

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10
Q

what is this? how do you treat

A

atypical mycobacterium adenitis

tx: clarithromycin x 7-10 days, f/u in 3 weeks (medical therapy may not work). May need I&D +/- excision.

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11
Q
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air trapping (on right side) due to foreign body - aka localized emphysema

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12
Q
A

H-type fistula (TEF)

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13
Q
A

laryngeal cleft (consider syndromes: VACTRL, CHARGE, opitz frias)

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14
Q
A

PCD with situs inversus - kartageners

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15
Q
A

nasal polyp - associated with CF

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16
Q
A

erythema marginatum associated with rheumatic fever

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17
Q
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dactylitis, assoc with psoriatic arthritis

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18
Q
A

heliotrope rash associated with dermatomyositis

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19
Q
A

gottran’s papules associated with dermatomyositis

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20
Q
A

Trisomy 21

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21
Q

what is this associated with, and what is the karyotype? what is the associated cardiac defect?

A

turner syndrome, 45 XO, coarctation of the aorta

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22
Q

what is this, and what is it associated with?

A

22q11 - cleft palate, thymic hypoplasia, cardiac defects

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23
Q

name the syndrome and characteristics

A

delayed speech, global developmental delay, broad based gait

“the happy puppet”

angelman syndrome

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24
Q

what is this, what are main features?

A

prader-willi

initial FTT, hypotonia

followed by hyperphagia

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25
lisch nodules associated with NF1
26
neurofibromas assoc with NF1 (+ scoliosis)
27
what is this, what is the genetic mutation
fragile x: characterized by macrocephaly, macro-orchidism, CGG trinucleotide repeat (expansion disorder, if \> 200 = full mutation, switches gene off)
28
fragile x
29
marfan syndrome - autosomal dominant - skeletal changes - dilated aortic root - dislocated lens - fibrillin 1 gene mutation
30
what is it, what is inheritance?
Homocystineuria - autosomal recessive inheritance
31
condition, mutation
achondroplasia due to mutation in FGFR3
32
what is this? what condition is it associated with?
shagreen patch, associated with tuberous sclerosis, typically over lumbar spine
33
what is this? what condition is it associated with?
ash leaf spot associated with tuberous sclerosis
34
what is this? management at birth?
congenital diaphragmatic hernia - intubate, NG for decompression of stomach - rule out other anomalies (cardiac) - repair if stable (wait 24-48 hrs), primary repair vs. gortex patch
35
what is this? how do you manage it?
ankyloglossia - conservative management, only do frenotomy if significant breastfeeding difficulties (use acetaminophen, sucrose or lidocaine for analgia - benzocaine ineffective)
36
what is this? what are the common bugs that cause this? how do you treat?
Opthalmia neonatorum - conjunctivitis occuring within first 4 weeks of life. gonorrhea \< 1%, chlamydia 2-40% of the time. Tx: erythromycin is not effective against chlamydia and 25% of gonorrhea is resistant - it is NOT recommended. Recommended to culture conjunctival discharge, tx ceftriaxone (if suspect gonorrhea). No routine culture or treatment of chlamydia opthalmia (only if symptomatic!)
37
what is this? what condition is it associated with? how do you diagnose this condition?
Erythema migrans, clinical sign of lyme disease, presents in 7-14 days (painless, non-pruritic) - may have multiple lesions in early disseminated disease. Diagnosis: if early localized = clinical diagnosis. If early disseminated/late disease - diagnosed by ELISA screen and confirmatory western blot
38
name the syndrome
Hurler syndrome (MPS type I)
39
What is the cardiac lesion?
Hypoplastic left heart - cardiomegaly with increased pulmonary congestion
40
What is the cardiac lesion?
VSD - cardiomegaly, increased pulmonary vascularity
41
What is the cardiac lesion?
Tetralogy of Fallot
42
What is the cardiac lesion?
TGA - egg on string
43
What is the cardiac lesion?
TAPVD - snowman appearance
44
What is the cardiac lesion?
myocarditis, pericardial effusion, dilated cardiomyopathy
45
what is this? how would you treat?
air trapping secondary to foreign body (expiratory view) management: bronchoscopy
46
child with hypotonia and this muscle biopsy
nemaline-rod myopathy
47
what syndrome? what is the inheritance?
myotonic dystrophy, autosomal dominant inheritance, CTG trinucleotide repeat in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q13.3
48
syndrome? gene? inheritance?
Achondroplasia, due to mutations at FGFR3. Behaves as autosomal dominant, the clinical manifestation is due to heterozygous achondroplasia (homozygous achondroplasia is usually lethal in the newborn period)
49
what are these skin findings typical of? inheritence? cause?
acrodermatitis enteropathica - an autosomal recessive disorder, caused by zinc deficiency
50
what is this? treatment?
scabies tx with permethrin 5% cream applied to entire body from neck down - leave on skin x 8-12 hrs, may need another treatment in one week (also: treat entire family, wash clothing/towels thoroughly)
51
what is this? syndrome?
Lisch nodules (pigmented hamartomas of the iris), seen in NF1
52
What is this called? What syndrome is it associated with? What is the inheritance and mutation associated with this syndrome?
Walker-Murdoch (Wrist) sign Associated with Marfan Syndrome Autosomal dominant inheritance, due to mutations in fibrillin-1 (on 15q21)
53
Name the syndrome, inheritance, mutation
Marfan syndrome Autosomal dominant Mutation in fibrillin-1 (15q21)
54
disease name and treatment options
Hurler's disease Rx: Enzyme replacement therapy OR BMT
55
iron deficiency anemia (lymphocyte = normal size of RBCs) hypochromic, microcytic, pencil forms
56
ringed sideroblasts - seen in congenital sideroblastic anemia
57
medullary expansion due to erythroid hyperplasia, as seen in severe hemolytic disorders (transfusion-dependent thalassemia, in absence of transfusions)
58
what is this condition? when it is genetic, how is it inherited? name two genes that could be mutated to cause this name one physical exam finding
Hereditary Spherocytosis, usually AD Mutations in ankyrin, spectrin, band 3 PE: splenomegaly, possibly jaundice
59
Child with history of tender retroauricular and posterior chain lymphadenopathy, maculopapular rash on body x 3 days, fever
Rubella Forscheimer spots (rose colored spots on soft palate), seen in 20%
60
fever in the returning traveller (from SE asia). this rash develops. What should you suspect?
Typhoid! WEEK 1: fever + bradycardia WEEK 2: Rose spots and abdo pain WEEK 3: HSM and GI bleeding
61
What is this? What is it associated with? Name three other PE findings that you may also see in this situation
Battle's sign Associated with basal skull # May also see: Racoon eyes, hemotympanum, CSF rhinorrhea/otorrhea
62
what is this?
congenital lobar emphysema commonly affects LUL affected lobe becomes overdistended, causing atelectasis of ipsilateral lung and mediastinal shift
63
What syndrome? What are the associated cardiac defects?
William's syndrome supravalvular aortic stenosis, peirpheral pulmonary stenosis

Royal College Exam (32 decks)

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