quiz 1 Flashcards

Question

Kleinfelt syndrome

Answer 1

* Incidence of 1:1000 in males; rarely causes spontaneous abortions * Clinical manifestations: * After puberty: Small testes, gynecomastia, diminished facial/body hair, tall/eunuchoid build, decreased muscle mass * IQ borderline-normal * Extra X chromosome > decreased testicular growth > low testosterone > delayed/absent/incomplete puberty, azoospermia, and infertility * Treatment: Testosterone replacement Sex Chromosome Abnormalities: Klinefelter Syndrome (XXY)

Answer 2

* Incidence of 1:2500 females * 95% of conceptions are miscarried * Caused by missing X chromosome or structurally abnormal X chromosome (only a single functional copy of X chromosome) in females Sex Chromosome Abnormalities: Turner Syndrome (Monosomy X)

Answer 3

* Clinical manifestations: Short, webbed neck; edema of hands/feet, triangular facies * Older females: Short stature, shield chest with wide-set nipples, mixed conductive/SN hearing loss, horseshoe kidneys, streak ovaries, amenorrhea, absence of development of secondary sex characteristics, infertility * Cardiac anomalies: Coarctation of the aorta, bicuspid aortic valve (newborn), aortic root dilatation (adults) * Learning disabilities common, secondary to difficulties in perceptual motor integration * Treatment: Hormonal therapy (GH, estrogen/progesterone), surgical intervention (cardiac anomalies), speech therapy/academic support

Answer 4

* Congenital NLDO occurs from mechanical obstruction located distally * More commonly seen in individuals with craniofacial abnormalities or Down syndrome * Clinical Manifestations: * Unilateral, bilateral, and asymmetric in severity * Tearing or mucoid discharge, especially in the morning * Conjunctiva non-injected * Treatment: * Duct massage * Topical antibiotics only for concurrent conjunctivitis or dacryocystitis * Surgical treatment (> 12 months): Probing of duct has 75-80% success rate *

Answer 5

* Obstructions proximal and distal to nasolacrimal sac * Clinical Manifestations: * Presents within first 10 days of life * Often unilateral, bluish mass lesion * More than 50% associated with intranasal cysts * Nasal endoscopic examination should be performed in all cases * Up to 85% develop infection (dacryocysitis), which may progress to orbital cellulitis/sepsis * Treatment: * Referral to ophthalmologist due to high risk of infection and possible need for surgical intervention * Nasolacrimal probing and endoscopic marsupialization of the intranasal cyst are often required

Answer 6

* Acute Dacryocystitis * MC caused by S. aureus, S. pneumoniae, and Haemophilus species * Congenital NLDO is the MC risk factor in children * Clinical Manifestations: * Presents with inflammation, swelling, tenderness, and pain over the lacrimal sac * Purulent discharge with sac pressure * Complications include cellulitis/sepsis * Treatment: * Systemic antibiotics *

Answer 7

* Clinical Manifestations: * Itchy, watery eyes with injected conjunctiva, usually bilateral * Allergic shiners may be present * Treatment: * Topical solutions that combine antihistamine and mast cell stabilizer * Systemic anti-histamines * Limitation of exposure to allergen *

Answer 8

* Arises from a local exogenous source (abrasion/insect bite), from other infections (hordeolum, dacryocystitis), or result after hematogenous spread * May progress to orbital cellulitis * Clinical Manifestations: * Red, swollen eyelids; pain; mild fever * Vision, eye movements, and eye itself are normal * Treatment: PO antibiotics *

Answer 9

* Serious complications: Subperiosteal abscess, meningitis, septicemia, and optic neuropathy * MC arises from paranasal sinus infection Clinical Manifestations: * Proptosis, eye movement restriction, decreased vision * Eye red and chemotic * CT with contrast to establish extent of infection and evaluate for subperiosteal abscess Complications: Permanent vision loss (compressive optic neuropathy), corneal exposure/drying/scarring (proptosis), cavernous sinus thrombosis, intracranial extension, blindness, death Treatment: * Initially, broad-spectrum antibiotics * Surgical drainage of abscesses/sinuses *

Answer 10

* Clinical Manifestations: * Sudden, severe eye pain * Decreased vision, tearing, conjunctival injection, poor cooperation with ocular exam * Diagnosis: Fluorescein dye > illumination with Wood lamp * Evert upper/lower eyelids to evaluate for FBs * Treatment: * Ophthalmic ointment, follow-up until healing complete

Answer 11

* Blunt trauma can lead to orbital fractures, retrobulbar hemorrhage can lead to orbital compartment syndrome > permanent vision loss Clinical Manifestations: * Orbital blowout fracture: Diplopia, pain with eye movements, restriction of EOM * CT scan useful in diagnosing extent of injuries * Orbital compartment syndrome: Severe eyelid edema and proptosis * Neuroimaging will show retrobulbar hemorrhage and proptosis Treatment: * OBF: Nonurgent repair to prevent enophthalmos, advise not to blow nose (orbital emphysema/proptosis) * OCS: Emergent lateral eyelid canthotomy and cantholysis to decompress orbit *

Answer 12

* Blunt trauma to globe > bleeding into anterior chamber * Clinical Manifestations: * Note height and color of hyphema * Total hyphema (eight ball hyphema) > pupillary block and secondary angle closure * Treatment: Eye shield, head elevation, specialist referral

Answer 13

* Cellulitis of the soft tissues of the EAC, which can extend to surrounding structures, such as the pinna, tragus, and lymph nodes * Humidity, moisture, heat known to contribute * Trauma to ear canal, which breaks skin-cerumen barrier (inhibiting bacterial/fungal growth) is first step in infection * Cotton swab use, earbuds, scratching, ear plugs * MC organisms: S. aureus, S. epidermidis, P. aeruginosa; fungal infections in 2-10% of patients * Clinical Manifestations: * Acute onset of pain, aural fullness, decreased hearing, and pruritis (peak within 3 days) * Manipulation of tragus/pinna causes considerable pain * Discharge may be clear/purulent * EAC narrowed/swollen (may be difficult to visualize entire TM) *

Answer 14

Complications: * Cellulitis of neck and face * Malignant OE: Spread of infection to skull base with resultant osteomyelitis Treatment: * Pain control, removal of debris from canal, topical antimicrobial therapy, avoidance of causative factors * Fluoroquinolone ear drops first line; combination with a steroid may be necessary (ciprofloxacin/dexamethasone) * Ensure no TM perforation first! * PO antibiotics for any invasive infection signs (fever, cellulitis, cervical lymphadenopathy) *

Answer 15

* Approximately 20-30% of children with pharyngitis have a group A streptococcal (GAS) infection * Other causes: Mycoplasma pneumoniae, Chlamydia pneumoniae, groups C/G streptococci, and Arcanobacterium hemolyticum * Most common in children 5-15 years, winter/early spring * Clinical Manifestations: * Sudden onset sore throat, fever, tender cervical adenopathy, palatal petechiae, beefy-red uvula, and a tonsillar exudate * Headache, stomachache, nausea/vomiting * Scarlet fever: 1-2 days into symptoms > sandpapery rash (diffuse, finely papular, erythematous, blanchable) with strawberry tongue appearance * Modified Centor Score * Definitive diagnosis with throat culture or rapid antigen test * RAT specific but only 85%-95% sensitive * *

Answer 16

* First-line: PCN/Amoxicillin (50 mg/kg divided BID x 10 days) * Alternatives: Cephalosporin (cephalexin), macrolide (azithromycin), clindamycin; Avoid tetracyclines, sulfonamides, and quinolones * Repeat culture following treatment is not recommended; indicated only for patients who remain symptomatic, have recurrence of symptoms, or have had rheumatic fever * RF patients may require long-term antibiotic prophylaxis (sometimes life-long) * Carrier state may last 2-6 months and is not contagious * Treated with clindamycin (x 10 days) or rifampin (x 5 days) only if patient or another family member has frequent strep infections or if family member/patient has history of RF or glomerulonephritis Recurrent infections: Tonsillectomy is now preferred for those with recurrent strep tonsillitis (Paradise criteria): * 7 tonsillitis episodes/year, 5 episodes/year for 2 consecutive years, 3 episodes/year for at least 3 years

Answer 17

* MC reason antibiotics are prescribed for children in US * Microbiology: S. pneumoniae > H. influenzae > M. catarrhalis > S. pyogenes Clinical Manifestations: * Two critical findings: Bulging TM AND a MEE * Otoscopic findings specific to AOM: Bulging TM, impaired visibility of ossicular landmarks, yellow or white effusion, opacified/inflamed TM, squamous exudate/bullae on TM *

Answer 18

* Season (winter > summer) * Ages 1-3 * Eustachian tube dysfunction * Infants and young children more prone due to shorter, more compliant, horizontal ET * Trisomy 21, cleft palate risk factors * Bacterial colonization of nasopharynx: S. pneumoniae, H. influenzae, M. catarrhalis * Smoke exposure: Increases risk of persistent MEE, prolonging inflammatory response, impeding drainage of fluid through ET * Impaired host immune defenses * Bottle feeding: Bottle propping in the crib or car seat > aspiration of contaminated secretions into the middle ear * Daycare attendance (exposure to viral infections/URIs) * Genetic susceptibility *

Answer 19

Pain control (may take 1-3 days before antibiotic relieves pain) Wait and see approach: * Observe episode without treatment * Option for healthy children (typically > 2 years) with mild-moderate OM and without underlying conditions * Decision made in conjunction with parents to begin antibiotics therapy if worsening of symptoms or lack of improvement within 48-72 hours Antibiotic therapy: * First-line: High dose amoxicillin (80-90 mg/kg divided BID) * Augmentin if child has had amoxicillin within last 30 days or clinically failing x 48-72 hours on amoxicillin * Cephalosporins (cefuroxime, cefpodoxime, cefdinir) for those with rash to PCN – risk of cross-sensitivity is less than 0.1% * Macrolide (azithromycin) only if history of type 1 hypersensitivity to PCN * Resistance of S. pneumoniae and H. influenzae (macrolide efflux pump) * Second-line antibiotics indicated when child experiences symptomatic infection within 1 month of finishing amoxicillin Failure to eradicate: Drug noncompliance, poor drug absorption, vomiting of drug * Child remains symptomatic for > 3 days with second line antibiotics * Tympanocentesis or IM ceftriaxone at 50 mg/kg/dose x 3 consecutive days Patients with tympanostomy tubes * First-line: Ototopical antibiotics (fluoroquinolones) * Treat infection and rinse drainage from tube * Tympanostomy tubes considered (AAP): * Three episodes in 6 months, 4 episodes in 1 year, last episode within past 6 months *

Answer 20

* Highly contagious (droplet and airborne transmission), caused by single-stranded RNA paramyxovirus, with humans as only host * Infects URT/regional lymph nodes > spreads systemically; secondary viremia (5-7 days) spread to respiratory tract, skin, and other organs * Contagious from 1-2 days prior to onset of symptoms (5 days before – 4 days following appearance of rash) Clinical Manifestations: * Four phases: Incubation (8-12 days from exposure to onset), prodromal (catarrhal), exanthematous (rash), and recovery * Three-day prodromal period: Cough, coryza, conjunctivitis and pathognomonic Koplik spots (gray-white, sand-grain-sized dots on buccal mucosa, opposite lower molars) * Conjunctiva with possible Stimson line (transverse line of inflammation along the eyelid margin) * Exanthematous phase: Symptoms continue, now with fever * Macular rash, spreading from head to toe over 24 hours; rash fades in the same pattern * Generalized lymphadenopathy (cervical nodes most prominent) * AOM, PNA, and diarrhea common in infants Diagnosis: * Serologic testing for IgM antibodies (appear 1-2 days into rash, persist for 1-2 months) * Suspect cases reported immediately to local/state health department Treatment: * Supportive care – fluids, antipyretics * WHO recommends routine administration of vitamin A x 2 days to children with acute measles

Answer 21

* Caused by single-stranded RNA togavirus, humans only host * Invades respiratory tract > dissemination (primary viremia) > replication in reticuloendothelial system > secondary viremia, virus present in peripheral blood monocytes, CSF, and urine * Spread through direct or droplet contact with NP secretions (2 days before or 5-7 days after rash onset) Clinical Manifestations: * Incubation period is typically 16-18 days, mild catarrhal symptoms * Retroauricular, posterior cervical, and posterior occipital lymphadenopathy with erythematous, maculopapular, discrete rash * Rash spreads from head to toe, lasts for 3 days * Rose-colored spots (Forchheimer spots) on soft palate may appear before rash * Other symptoms: Pharyngitis, conjunctivitis, anorexia, headache, malaise, low-grade fever, polyarthritis, parasthesias, tendonitis Diagnosis: * Serologic testing for IgM antibodies (positive 5 days after onset) or by 4-fold or greater increase in specific IgG antibodies in acute/convalescent sera Treatment: Supportive *

Answer 22

* Caused by single-stranded DNA virus, parvovirus B19 * Viral affinity for RBC progenitor cells > aplastic crisis in patients with hemolytic anemias (SCD, spherocytosis, and thalassemia) Clinical Manifestations * Incubation period typically 4-14 days * Begins with mild illness characterized by fever, malaise, myalgias, and headache > rash 7-10 days later * Three stages of rash: * Initially: “Slapped cheek” rash with circumoral pallor * 1-4 days later: Erythematous, symmetric, maculopapular, truncal rash * Central clearing of rash takes place, distinct lacy, reticulated rash * Rash may be pruritic, does not desquamate * Adolescents/adults may experience myalgia, significant athralgias/arthritis, headache, pharyngitis, coryza, and GI upset * May cause hepatitis, myocarditis, and papular-purpuric gloves and socks syndrome * Transient aplastic crisis (SCD): Fever, lethargy, malaise, pallor, headache, GI symptoms, respiratory symptoms * Extremely low reticulocyte count, low hemoglobin, transient neutropenia/thrombocytopenia * Diagnosis * Hematologic abnormalities: Reticulocytopenia x 7-10 days, mild anemia, thrombocytopenia, lymphopenia, and neutropenia * Detected by PCR and electron microscopy of erythroid precursors in bone marrow * Serologic testing (IgM antibodies) is diagnostic (detects infection within prior 2-4 months) Treatment: Supportive care, transfusion (aplastic crisis), IVIG for immunocompromised

Answer 23

* Caused by double-stranded DNA virus, human herpesvirus type 6 (HHV-6) in most cases (HHV-7 in 10-30% of cases) * Major cause of acute febrile illnesses in infants and may be responsible for up to 20% of ER visits for children 6-18 months of age Clinical Manifestations * HIGH fever (> 40C) with abrupt onset, lasts 3-5 days > giving way to maculopapular, rose-colored rash (lasts 1-3 days) * URI symptoms, erythematous TMs, and cough * Diagnosis: PCR for detection of HHV-6 in blood (does not differentiate latent, reactivation, or primary infections) Treatment: Supportive

Answer 24

Caused by double-stranded DNA virus, varicella-zoster virus (VZV) Chickenpox (varicella) is primary infection Transmission via direct contact, droplet, and air Infects via conjunctivae or respiratory tract and replicates in NP and URT Primary viremia > infects regional lymph nodes, liver, spleen, and other organs Secondary viremia > cutaneous infection with typical vesicular rash Communicability from 2 days prior to 7 days after onset of rash (when all lesions are crusted) Resolution of chickenpox > virus persists in dorsal root ganglia Zoster (shingles) is reactivated latent infection Transmission via direct contact Clinical Manifestations (Varicella) Incubation period is generally 14-16 days Prodromal symptoms of fever, malaise, and anorexia may precede rash by 1 day Rash progression: Small red papules > nonumbilicated, oval, tear-drop-like vesicles on an erythematous base > vesicles ulcerate, crust, and heal New crops appear for 3-4 days Usually begins on the trunk followed by the head, face, and extremities (rare) All forms of lesions are present at the same time Marked pruritis Diagnosis: PCR of vesicular fluid is method of choice Treatment (Varicella) Symptomatic: Anti-pyretics, cool baths, and careful hygiene Acyclovir (all age groups), valacyclovir (2 years and older) Not recommended in otherwise healthy children Early (within 24 hours of rash onset) in immunocompromised patients is effective in preventing PNA, encephalitis, and death

Answer 25

Clinical Manifestations (Zoster) * Pre-eruption phase: Intense, localized, burning pain and tenderness (acute neuritis) along a dermatome, accompanied by malaise and fever * Rash progression: * Several days later, eruption of papules > vesiculation (in dermatomal distribution/unilateral) > crusting/healing * Thoracic and lumbar regions MC * CN V involvement: Corneal/intraoral lesions * CN VII involvement: Ramsay Hunt Syndrome – facial paralysis and ear canal vesicles * Postherpetic neuralgia: Pain persisting > 1 month is uncommon Treatment (Zoster) * Acyclovir, valacyclovir, famciclovir (adults) * Accelerates cutaneous healing, hastens resolution of acute neuritis, and reduces risk of postherpetic neuralgia

Answer 26

* Caused by coxsackieviruses, especially types A5, A10, and A16 Clinical Manifestations: * Mild fever, sore throat, and malaise * Rash: Vesicles/red papules found on pharyngeal pillars, tongue, oral mucosa, hands (palms), and feet (soles) * Lesions may last 1-2 weeks * Treatment: Supportive

Answer 27

* Erosions covered by honey-colored crusts * Staphylococci and group A streptococci * Treatment: Topical (mupirocin, polymyxin, gentamycin, erythromycin) and/or PO (B-lactamase- resistant PCN, cephalosporins, clindamycin, amoxicillin-clavulanate) x 7-10 days * Bullous impetigo: Border filled with clear fluid; treatment with PO abx x 7-10 days * Ecthyma: Firm, dry crust, surrounded by erythema that exudes purulent material (deeper form of impetigo affecting the superficial dermis); treatment with systemic PCN

Answer 28

Erythematous, hot, tender, ill-defined, edematous plaques accompanied by regional lymphadenopathy Invasion of microorganisms into lower dermis/beyond GABHS and coagulase-positive staphylococci are the MC causes Treatment with systemic antibiotic

Answer 29

folliculitis: * Pustule at a follicular opening * Staphylococcal and streptococcal infections MC * Treatment: Warm, wet compresses x 24 hours, topical keratolytics, topical/PO antibiotics Abscess: * Erythematous, firm, acutely tender nodule with ill-defined borders * Staphylococci are MC infections * Treatment: I&D alone/with adjuvant antibiotics

Answer 30

* Sudden onset of bright red, acutely painful skin (perioral, periorbital, flexural areas) * Slightest pressure on skin results in severe pain and separation of epidermis (Nikolsky sign) * Commonly from staph infection * Treatment: Systemic anti-staphylococcal antibiotics *