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diagnostic test of DMD

DNA peripheral blood analysis and/or immunohistochemical detection of abnormal dystrophin on a muscle biopsy tissue section, elevated serum creatine kinase (CK) (also elevated in many female carriers of the gene)


DMD genetics?
disease mechanism at the genetic level ?

X-linked recessive trait.
An out of frame mutation at the Xp21.2 locus encodes for an aberrant form of the protein dystrophin, which normally functions to stabilize the muscle membrane proteins.


classic signs of Duchenne muscular dystrophy (DMD):

waddling gait and progressive proximal muscle weakness, enlarged calves, toe walking on ambulation, increasing lumbar lordosis (gluteal weakness), frequent falling, difficulty climbing stairs,


other complications of DMD

Cardiomyopathy (EKG findings on the precordial leads of tall R waves on the right and deep Q waves on the left can be seen)
Nonprogressive intellectual impairment is common (mean IQ 80); brain atrophy can be seen on brain CT
respiratory failure, wheelchair dependent, scoliosis


Becker MD

an X-linked recessive disease caused by a genetic in-frame mutation at the Xp21.2 locus, which results in a similar, but less severe disease with later onset than DMD.


muscular dystrophy treatment

Orthopedic intervention, including bracing and tendon lengthening
Physiotherapy may delay the onset of contractures but can hasten muscle degeneration
Prednisone (optimal dosing 0.75 mg/kg/d) age 5 and older


All DMD patients have some degree of ? so routine evaluation is required
may be responsive to ?

Early cardiac dysfunction may be responsive to digoxin


what is common cause of death in DMD

respiratory failure


Another common form of MD is ? the second most common type of MD in the United States
genetics? presentation?

myotonic muscular dystrophy, autosomal dominant trait
inverted V-shaped upper lip, thin cheeks, and wasting of the temporalis muscles. The head is abnormally narrow, and the palate is high and arched
progressive challenges in walking, speech difficulties, GI tract problems, endocrinopathies, immunologic deficiencies, cataracts, intellectual impairment, and cardiac involvement.



Wet or “crackly” inspiratory breath sounds due to alveolar fluid or debris; usually heard in pneumonia or CHF


staccato cough often heard in ?

pertussis and chlamydial pneumonia (Coughing spells with quiet intervals)


pleural effusion

Fluid accumulation in the pleural space; may be associated with chest pain or dyspnea; can be transudate or exudate depending on results of fluid analysis for protein and LDH; origins include cardiovascular (CHF), infectious (mycobacterial pneumonia), and malignant (lymphoma)


pulse oximetry

Noninvasive estimation of arterial oxyhemoglobin concentration (SPO2) using select wavelengths of light.


CXR findings in pneumonia

single or multilobar consolidation (pneumococcal or staphylococcal pneumonia), air trapping with a flattened diaphragm (viral pneumonia with bronchospasm), perihilar lymphadenopathy (mycobacterial pneumonia) an interstitial pattern (mycoplasmal pneumonia), pleural effusion and abscess formation (bacterial infection)


60% of pediatric pneumonias are ? in origin, with ? topping the list.
? run a close second

bacterial, pneumococcus topping the list



viruses implicated in ped pneumonia

respiratory syncytial virus [RSV], adenovirus, influenza, parainfluenza, enteric cytopathic human orphan [ECHO] virus, Coxsackie virus)


diagnosis and treatment usually are directed by ? in pediatric pneumonia

pt s/s, physical and radiographic findings, and age as routine culture of nasopharynx and sputum is typically not performed


pneumonia bugs 1st few days of life

Enterobacteriaceae and GBS
other possibilities include Staph, S. pneumo, and Listeria


abx for newborn with pneumonia

ampicillin with either gentamicin or cefotaxime


During the first few months of life, ? is a possibility, particularly in the infant with staccato cough and tachypnea

Chlamydia trachomatis
with or without conjunctivitis or known maternal chlamydia history
may have eosinophilia, and bilateral infiltrates with hyperinflation on chest radiograph


treatment for chlamydial pneumonia

erythromycin, sulfisoxazole (the latter only in infants older than 2 months)


Viral etiologies 1st few days of life include ?

HSV, enterovirus, influenza, and RSV; of these, HSV is the most concerning and prevalent viral pneumonia in the first few days of life, tx with IV acyclovir


Beyond the newborn period and through approximately 5 years of age, viral pneumonia is common; common offenders?
Bacterial etiologies?

adenovirus, rhinovirus, RSV, influenza, and parainfluenza

pneumococcus and nontypeable Haemophilus influenzae.


diagnostic tests for viral pneumonia

Nucleic acid PCR amplification of secretions from a nasal swab or wash


The pediatric patient older than approximately 5 years of age with LRTI typically has ?

(orgs listed for younger groups can occur as well)


abx coverage for ped pneumonia pt 5+ yrs

(coverage for mycoplasma and S. pneumo)
penicillins (amoxicillin, ampicillin), cephalosporins (ceftriaxone, cefuroxime), or macrolides (azithromycin). Vancomycin or clindamycin if CAP MRSA is suspected


Pneumonia in the intubated intensive care patient with central lines may be related to ? or ?

Pseudomonas aeruginosa or fungal species (Candida)


? are possibilities in the patient with chronic lung disease (cystic fibrosis)

Pseudomonas and Aspergillus


5-mm induration may be considered a “positive PPD” at 48 to 72 hours in a patient with ?

confirmed exposure, abnormal CXR, or immunodeficiency.


Standard antituberculous therapy, while awaiting culture and sensitivities, includes ?. For possible drug-resistant organisms, ? can be added temporarily as long as visual acuity can be followed

isoniazid, rifampin, and pyrazinamide


typical antituberculosis therapy

initial phase of approximately 2 months' duration on three or four medications, followed by a continuation phase of 4 to 7 months on isoniazid and rifampin
9 to 12 months is recommended for CNS or disseminated TB


new TB tests

Quantiferon Gold In-Tube (QFT-GIT) test and the T-SPOT.TB (T-Spot) test
(both are interferon gamma release assays (IGRA))


Marfan syndrome inheritance? gene involved?

autosomal dominant, fibrillin-1 gene


cystathionine synthase deficiency is seen in what condition



OCD treatment

high-dose SSRI (i.e. fluoxetine) and exposure and response based therapy


fever, severe headaches, and focal neurological changes are the classic triad for

brain abscess


cyanotic congenital heart disease and recurrent sinusitis increases the risk for

brain abscess due to spread of bacteria from sinuses into frontal lobe and heard defect bypasses bad-filtering lungs (R->L shunt)


abdominal pain, hematemesis, metabolic acidosis, radiopaque lesions in stomach on Xray, think ingestion of ?



scoliosis, "hammer toes", HCM, dysarthria, frequent falling think?

Friedrich ataxia, most common type of apinocerebellar ataxia
autosomal recessiv


The degree of proteinuria significant enough to warrant further diagnostic workup is defined as:

30 mg/dL (1+) on 2 random urine specimens collected one week apart if urine specific gravity is < 1.015; or
100 mg/dL (2+) on similarly collected urine if specific gravity is > 1.015.


24 hr urine collection ranges for normal, abnormal, and nephrotic range

Normal: Amount of protein excreted is < 4 mg/m2/hour
Abnormal: 4-40 mg/m2/hour
Nephrotic range: > 40 mg/m2/hour


Urine Protein:Creatinine Ratio (urine PCR)

less than 0.2 is normal in children older than 2 years (less than 0.5 is normal in 6- to 24-month-olds)
greater than 1.0 is in a suspicious range for nephrotic syndrome
greater than 2.5 is diagnostic for nephrotic syndrome


other lab findings in nephrotic syndrom

hypoalbuminemia, hyperlipidemia, hyponatremia (fluid overload and hyperlipids)


general treatment of nephrotic syndrome

corticosteroids and sodium restriction to a level of 1500-2000 mg daily.


treatment of nephrotic syndrome if symptomatic (particularly to relieve dyspnea and edema if these symptoms are causing discomfort, or, in boys, to reduce scrotal edema that may compromise testicular perfusion)

25% albumin infusion followed with 1 to 2 mg/kg of furosemide to promote diuresis


infectious complications of nephrotic syndrome

spontaneous peritonitis (S. pneumo, G-)
pneumonia, cellulitis, UTIs