Spot Diagnosis Flashcards
perianal strep
Congenital rubella syndrome
congnital rubella syndrome
gum changes due to scurvy (vit C deficiency)
mastoiditis with post auricular abscess
what is this is, and how does it present?
cholesteatoma (presentation: recurrent foul-smelling otorrhea, responds to ototopicals)
what is this, and what is your management?
septal hematoma, consult ENT for drainage
subglottic hemangioma
button battery - requires emergent removal! (step sign)
what is this? how do you treat
atypical mycobacterium adenitis
tx: clarithromycin x 7-10 days, f/u in 3 weeks (medical therapy may not work). May need I&D +/- excision.
air trapping (on right side) due to foreign body - aka localized emphysema
H-type fistula (TEF)
laryngeal cleft (consider syndromes: VACTRL, CHARGE, opitz frias)
PCD with situs inversus - kartageners
nasal polyp - associated with CF
erythema marginatum associated with rheumatic fever
dactylitis, assoc with psoriatic arthritis
heliotrope rash associated with dermatomyositis
gottran’s papules associated with dermatomyositis
Trisomy 21
what is this associated with, and what is the karyotype? what is the associated cardiac defect?
turner syndrome, 45 XO, coarctation of the aorta
what is this, and what is it associated with?
22q11 - cleft palate, thymic hypoplasia, cardiac defects
name the syndrome and characteristics
delayed speech, global developmental delay, broad based gait
“the happy puppet”
angelman syndrome
what is this, what are main features?
prader-willi
initial FTT, hypotonia
followed by hyperphagia
lisch nodules associated with NF1
neurofibromas assoc with NF1 (+ scoliosis)
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)
fragile x
marfan syndrome
- autosomal dominant
- skeletal changes
- dilated aortic root
- dislocated lens
- fibrillin 1 gene mutation
what is it, what is inheritance?
Homocystineuria
- autosomal recessive inheritance
condition, mutation
achondroplasia
due to mutation in FGFR3
what is this? what condition is it associated with?
shagreen patch, associated with tuberous sclerosis, typically over lumbar spine
what is this? what condition is it associated with?
ash leaf spot associated with tuberous sclerosis
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
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)
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!)
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
name the syndrome
Hurler syndrome (MPS type I)
What is the cardiac lesion?
Hypoplastic left heart - cardiomegaly with increased pulmonary congestion
What is the cardiac lesion?
VSD - cardiomegaly, increased pulmonary vascularity
What is the cardiac lesion?
Tetralogy of Fallot
What is the cardiac lesion?
TGA - egg on string
What is the cardiac lesion?
TAPVD - snowman appearance
What is the cardiac lesion?
myocarditis, pericardial effusion, dilated cardiomyopathy
what is this? how would you treat?
air trapping secondary to foreign body (expiratory view)
management: bronchoscopy
child with hypotonia and this muscle biopsy
nemaline-rod myopathy
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
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)
what are these skin findings typical of? inheritence? cause?
acrodermatitis enteropathica - an autosomal recessive disorder, caused by zinc deficiency
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)
what is this? syndrome?
Lisch nodules (pigmented hamartomas of the iris), seen in NF1
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)
Name the syndrome, inheritance, mutation
Marfan syndrome
Autosomal dominant
Mutation in fibrillin-1 (15q21)
disease name and treatment options
Hurler’s disease
Rx: Enzyme replacement therapy OR BMT
iron deficiency anemia
(lymphocyte = normal size of RBCs)
hypochromic, microcytic, pencil forms
ringed sideroblasts - seen in congenital sideroblastic anemia
medullary expansion due to erythroid hyperplasia, as seen in severe hemolytic disorders (transfusion-dependent thalassemia, in absence of transfusions)
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
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%
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
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
what is this?
congenital lobar emphysema
commonly affects LUL
affected lobe becomes overdistended, causing atelectasis of ipsilateral lung and mediastinal shift
What syndrome? What are the associated cardiac defects?
William’s syndrome
supravalvular aortic stenosis, peirpheral pulmonary stenosis
