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autosomal recessive disorder, congenital marrow failure, poor growth, morphologic abnormalities, macrocytic anemia

Fanconi anemia


chelators for iron and lead

iron: deferoxamine
lead: oral succimer (mild-mod), calcium EDTA (mod-sev)


limitation of upward gaze, bilateral eyelid retraction and light-near dissociation (Parinaud syndrome)

pineal gland tumors
also headaches and vomiting


most common pneumo bug in infants/young kids with CF?
in adults with CF?

staph aureua


migraine tx

triptans: rizatriptan (for ages 6-17 years) and almotriptan (for adolescents), anti emetics, abortive: topiramate, valproic acid, β-blockers, TCAs and cyproheptadine


migraine criteria: 5+ attacks that meet the following criteria

1. Last 1-72 hours (untreated or unsuccessfully treated)
2. 2+:
Unilateral or bilateral frontal or temporal pain
Pulsing or throbbing in nature
Moderate to severe pain
Aggravated or causes avoidance of routine physical activity
3. Have at least one of the following:
Nausea or vomiting
Photophobia or phonophobia
4. Is not due to another disorder


? is imaging of choice to evaluate for secondary headache, unless ?

hemorrhage or fracture is suspected based on history and physical in which case CT is recommended


To establish the diagnosis, a patient must demonstrate 4 of the 11 features of SLE

Oral ulcers
Blood Disorders
Renal involvement
Antinuclear antibodies
Immunological disorders (dsDNA, anti-Smith, anti-phospholipid antibodies)
Neurological disorder
Malar Rash
Discord Rash



A multisystem disease in which widespread inflammatory involvement of the connective tissues occurs along with an immune-complex vasculitis


sensitive and specific SLE markers

ANA positivity is present in 95% to 99% of children with SLE
Anti–double-stranded (ds) DNA levels are more specific, and in some individuals, levels do correlate with disease severity


Renal disease in SLE is often asymptomatic so if hypertension, elevated creatinine, or findings of nephritis on urinalysis are noted, do what?

biopsy is required for staging the level of disease


Involvement of other organs may present as ?

cerebritis, pleuritis, pericarditis, hepatitis, and hypersplenism.Hematologic abnormalities include cytopenias and antiphospholipid antibodies.


ddx SLE

JIA (-renal involvement)
Dermatomyositis (+proximal muscle weakness, Gottron papules, erythema over the elbows and knees, and the finding of malar rash crossing the nasolabial folds)
Reactive and postinfectious arthritis


SLE treatment

avoid sun exposure
Hydroxychloroquine (mild), NSAIDs for joint pain, Glucocorticoids (acute/moderate), immunosuppressive agents (cyclophosphamide, rituximab, methotrexate, and mycophenolate mofetil) if severe including evidence of renal or neurologic involvement


lab studies in PSGN

C3 (low in 90% of cases), C4 (usually normal); antistreptolysin-O (ASO) enzyme antibodies, and antideoxyribonuclease B (anti-DNase B) antibodies provide evidence of recent streptococcal infection.
hematuria, proteinuria, red cell casts


? is characterized by recurrent painless hematuria, usually preceded by an upper respiratory tract infection.

Immunoglobulin A (Berger) nephropathy


ddx PSGN

Rhabdomyalysis, Immunoglobulin A (Berger) nephropathy, HSP, SLE


Generally the interval between GABHS pharyngitis and APSGN is ?; the interval between GABHS impetigo and APSGN is?

1 to 2 weeks
3 to 6 weeks


PSGN presentation

almost all patients have microscopic hematuria, only 30% to 50% develop gross hematuria. In addition, 85% present with edema and 60% to 80% develop hypertension.


PSGN treatment

supportive; fluid balance is crucial; diuretics, fluid restriction, or both may be necessary. Sodium and potassium intake may require restriction. HTN controlled with CCBs


resolution timeframe of PSGN

edema resolves in 5 to 10 days, and patients usually are normotensive within 3 weeks. C3 levels usually normalize in 2 to 3 months; a persistently low C3 level is uncommon and suggests an alternate diagnosis. Microscopic hematuria may persist for 1 to 2 years.


appendicitis workup

uCG, surgery consult if suspected
abdominal US then CT
CBC that may show leukocytosis, a CMP (to identify diabetes, hypercalcemia, abnormal creatinine, transaminitis), pancreatic enzymes, and a urinalysis to eliminate other causes of the pain


why surgical consult needs to be done ASAP for appendicitis

perforation rates exceed 65% if diagnosis is delayed beyond 36 to 48 hours from symptom onset
-most common complications of appendicitis are wound infection and intra-abdominal abscess or phlegmon formation, all of which occur more frequently with appendices perforation
others: sepsis, shock, ileus, peritonitis, and adhesions causing SBO


CBC in appendicitis

leukocytosis with a predominance of PMNs (a “left shift”) on a CBC supports an inflammatory process. However, the CBC may be normal in the first 48 hours of the illness. Thereafter, it would be expected to be greater than 10,000/mm3 and in cases of perforation, it may be greater than 20,000/mm3.