Question flashcards
Henoch-Schonlein purpura
IgA mediated leukocytoclastic vasculitis
sx: palpable purpura, arthritis/arthralgia, abd pain/intussusception, renal dz (IgA dephropathy)
- -> nml plt, coags, CBC
- -> normal or increased creatinine
- -> hematuria +/- RBC casts and proteinuria
NF-1 vs. NF-2
NF1 = cafe au lait spots, macrocephaly, short stature, feeding problems, learning disabilities, tumors later in life
NF2 = Bilateral acoustic neuromas + cataracts
Pityriasis Rosea
+/- viral prodrome
annular, pink herald patch on trunk
-oval lesions in “christmas tree” pattern
-pruritis
TX = reassurance (resolve spontaneously in weeks to months)
tx itching with anthistamines
Selective Mutism
Refusal to speak in specific social situations, nml elsewhere
Congenital torticollis
head tilt to one side
- postural deformity
- palpably, well circumscribed, mass that does NOT transilluminate on inferior aspect of SCM
Legg-Calve-Perthes disease
idiopathic avascular necrosis of femur
- boys age 3-12
- insidious hip pain + limp
- decreased hip ABduction and internal rotation
TX: non-weight bearing, splinting, (?) surgery
Slipped capital femoral epiphysis
- limp + insidious hip pain
- OBESE adolescent
- XR –> posterior displacement of femoral head
Reye syndrome
2/2 peds ASA use w/influenza or varicella infection
- -> Acute liver failure (microvesicular steatosis on liver bx)
- -> elevated AST, ALT, PT, INR, PTT, and ammonia
TX: supportive
Eosinophilic esophagitis
chronic, immune-mediated esophageal inflammation
sx: dysphagia, epigastric pain, reflux/vomiting, food impaction, associated atopy
DX: endoscopy and esophageal biopsy with > 15 eos/hpf
TX: dietary modification +/- topical glucocorticoids
Gonnococcal vs. chlamydial neonatal conjunctivitis
Gonococcal: onset at 2-5 days
-marked eyelid swelling, profuse purulent discharge, corneal edema/ulceration
TX: single IM dose of 3rd gen cephalosporin
Chlamydial: mild eyelid swelling, watery/serosanguinous, or mucopurulent eye discharge
TX: PO macrolide
Leukocyte adhesion deficiency
- recurrent skin and mucosal bacterial infections
- -> no pus (lack of neutrophils at inflammation site)
- -> poor wound healing
- Delayed umbilical cord separation (>21 days)
- Marked peripheral leukocytosis
Pathophys: defective integrins on leukocyte surface –> neutrophils can’t adhere to vascular endothelium and exit
Adenosine deaminase deficiency
AR
Severe combined immunodeficiency
- deficient formation of mature B and T lymphocytes
- Severe infections and failure to thrive
- Labs show marked lymphopenia
X-linked agammaglobulinemia
Defective B lymphocyte maturation due to mutation in Bruton tyrosine kinase
- Recurrent sinopulmonay and GI infections
- LOW B cell and Ig concentrations
Patellofemoral stress syndrome
what makes it worse?
overuse injury seen in runners
anterior knee pain that worsens upon descending steps or hills
pain localized to patella
Breastfeeding failure jaundice
presents in 1st week of life
-Lactation failure resulting in –> decreased bilirubin elimination, increased enterohepatic circulation
–> suboptimal breastfeeding, signs of dehydration
TX: increase frequency and duration of feeds to stimulate milk production and maintain adequate hydration
Breast milk jaundice
starts at 3-5 days, peaks at 2 weeks
-High levels of B-glucuronidase in breast milk deconjugates intestinal bilirubin and increases enterohepatic circulation
–> adequate breastfeeding w/ normal exam
Treatment of Croup (laryngotracheitis)
mild (no stridor at rest) –> humidified air +/- corticosteroids
Moderate/severe (stridor at rest) –> corticosteroids + nebulized epinephrine
Necrotizing enterocolitis (NEC)
risks: prematurity, very low birth weight
- -> gut immaturity and exposure to bacteria from enteral feeds –> inflammation and damage to bowel wall
*Decreased rates of NEC in breastfed premature infants
DX: abd XR with air in bowel wall (pneumatosis intestinalis) and portal venous air –> can lead to perforation and pneumoperitoneum
w/leukocytosis and metabolic acidosis.
Edwards Syndrome (trisomy 18)
microcephaly, micrognathia, overlapping fingers, absent palmar creases, rocker-bottom feet
Increased risk of VSD (holosystolic murmur at LL sternal border)
Ewing’s sarcoma
malignant tumor in LE > UE
typically in metaphysis and diaphysis of femur
very aggressive, early mets to lungs and lymph nodes
on XR has onion skin periosteal reaction or moth-eaten/mottled appearance and extension into soft tissue
Causes of QT prlongation
- hypocalcemia
- hypokalemia
- hypomagnesmia
- Meds - abx, psychotropics, opiods, antiemetics, antiarrhythmics
- Inherited
Inherited disorders of QT prlongation
- Jervell and Lange-Nielsen
2. Romano-Ward syndrome
Jervell and Lange-Nielsen
AR, congenital long QT due to defect in potassium channels
- associated with congenital deafness
- increased risk of syncope, ventricular arrhythmias, sudden death, and torsades
TX: B-blockers, normal electrolyte levels, avoid QT prolonging medications, avoid rigorous exercise
*if h/o syncope, add pacemaker
Methemoglobinemia
caused by exposure to oxidizing agent (anesthetics, nitrites, dapsone)
Fe2+ –> Fe3+ (ferric state) has increased O2 affinity –> decreased oxygen delivery to peripheral tissues
SX: cyanosis, dark chocolate blood, low pulse ox, PaO2 is NORMAL
Minimal change disease
most common cause of nephrotic syndrome in children (age 2-3 yrs, most <10yrs)
Path: T-cell mediated injury to podocytes causes increased molecular permeability to albumin
SX: edema, fatigue, no hematuria, hypoalbuminemia, proteinuria
TX: corticosteroids
Rotavirus vaccine is given….
given between 2-8 months
McCune-Albright Syndrome
SX: precocious puberty (FSH, LH), irregular cafe-au-lait macules, recurrent fractures due to polyostotic fibrous dysplasia
-can also cause thyrotoxicosis (TSH), acromegaly (GH), cushings (ACTH)
GNAS gene mutation –> G protein activation and overproduction of pituitary hormones
Immune Thrombocytopenia
- antecedent viral infection
- asymptomatic petechiae and ecchymosis
- mucocutaneous bleeding
- isolated thrombocytopenia w/peripheral smear showing megakaryocytes
TX in kids:
- skin manifestations only –> observe
- bleeding –> IVIG or glucocorticoids
Laryngomalacia
increased laxity of supraglottic structures –> inspiratorry stridor that worsens when supine
-peaks at age 4-8 months
DX - direct laryngoscopy
TX - reassurance vs. supraglottoplasty
Riboflavin deficiency (B2)
- due to poor intake, poor absoption, probenacid, oral contraceptive use.
- SX: cheliosis, glossitis, ocular problems (keratitis, conjunctivits, corneal vascularization), and seborrheic dermatitis
cheliosis, glossitis, ocular problems (keratitis, conjunctivits, corneal vascularization), and seborrheic dermatitis
which deficiency am I?
B2, riboflavin
Vitamin B6 (pyridoxine) deficiency
-enzyme deficiency vs. poor absorption vs. isoniazid, steroids, anticonvulsants
SX: seizures, peripheral neuritis, dermatitis, microcytic anemia
seizures, peripheral neuritis, dermatitis, microcytic anemia
which deficiency am I?
Vitamin B6 (pyridoxine) deficiency
Folate deficiency
due to poor intake/absorption, high demand (e.g. sickle cell), inborn errors of metabolism, MTX, phenytoin
SX: megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity
megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity
which deficiency am I?
Folate deficiency
Kawasaki disease
acute vasculitis of small and medium arteries
- typically age <5, asian
- prolonged high fever, unresponsive to antipyretics
-Conjunctivitis (BL, nonexudative)
-strawberry tongue
-rash
erythema, edema, desquamation of hands and feet
-cervical lymphadenopathy
-elevated ESR/CRP, thrombocytosis, sterile pyuria
**can get coronary artery aneurysms
TX: ASA + IVIG
evaluation of Malrotation –> _____
upper GI series abd XR
DDX of bilious emesis
meconium ileus
Hirschsprung disease
malrotation
duodenal atresia
Evaluation of meconium ileus and hirschsprung disease?
contrast enema
evaluation of duodenal atreasia
abd XR –> double bubble sign
Iron poisoning –> what sx?
abdominal pain, vomiting, diarrhea, hypotensive shock
- Anion gap metabolic acidosis
- -> hepatic necrosis and pyloric stenosis
TX: deferoxamine, whole bowel irrigation
Di George Syndrome
CATCH -22
Conotruncal cardiac defects Abnormal facies Thympic aplasia/hypoplasia Cleft palate Hypocalcemia
*Defective development of pharyngeal pouches
Chr 22 q11.2 deletion
Sickle cell disease patients are at high risk for what bugs causing sepsis?
1) Strep pneumoniae
2) Haemophilus influenzae
3) Neisseria meningitidis
Wilms tumor is associated with what syndromes?
WAGR
Beckwith Wiedemann syndrome
Denys-Drash syndrome
WAGR
wilms tumor, aniridia, GU abnormalities, intellectual disability (retardation)
Wilms tumor sx
asymptomatic, firm, smooth abdominal mass that does not cross midline
Types of renal tubular acidosis
1) distal - poor hydrogen secretion into urine
2) proximal - poor bicarbonate resorption
4) aldosterone resistance
Type 1 distal RTA
poor hydrogen secretion into urine
urine pH > 5.5
low-normal serum potassium
CAUSES:
- genetic disorders
- med toxicity
- autoimmunie disorders
Type 2 (proximal) RTA
poor bicarbonate resorption
urine pH < 5.5
low normal potassium
CAUSES:
-fanconi sydrome (glucosuria, phosphaturia, aminoaciduria)
Type 4 RTA
aldosterone resistance
urine pH < 5.5
HIGH serum potassium
CAUSES:
- obstructive uropathy
- CAH
Vitamin A deificiency
impaired adaptation to darkness photophobia dry scaly skin dry conjunctiva (zerosis conjunctiva) dry cornia (xerosis cornea) keratomalacia bitot spots follicular hyperkeratosis
Major Jones Criteria for rheumatic fever
Joints - polyarthritis O (Heart) - carditis Nodules - subcutaneous nodules Erythema marginatum Syndam chorea --> this is alone enough to make dx of RF
Polyarthritis is the most common finding
murmur of VSD vs. ASD
VSD = harsh, blowing holosystolic murmur best heard alonf the left lower sternum
ASD = fixed splitting of S2
Fanconi syndrome
diminished reabsorption of solutes by the proximal tubule
SX:
- dehydration
- polyuria, polydipsia
- hypokalemia
- proteinuria
- hypophosphatemia, hypocalcemia
- hyperchloremic metabolic acidosis (defect in bicarb reabsorption) –> high urine pH
Minimal change disease
sx?
what does renal bx look like?
T cell mediated injury to podocytes
-most common cause of nephrotic syndrome in children age 2-3
DX: renal biopsy without microscopic changes –> can see diffuse effacement of foot processes of podocytes on EM
TX: steroids
Thickened BM and subepithelial “spikes”
what am I?
Membranous glomerulonephritis
-common nephrotic syndrome in adults, rare in young children
McCune-Albright Syndrome
gonadotropin-independent precocious pubery
presents with irregular cafe-au-lait macules and fibrous dysplasia of bone
Presentation of transposition of the great vessels in a new born
SINGLE S2 +/- VSD
cyanosis within 24hrs of live
Trachoma
chlamydia serotypes A, B, and C
-leading cause of blindness world wide
SX: follicular conjunctivitis with concomitant nasopharyngeal infection
TX: azithromycin
EBV infection
fever tonsillitis/pharyngitis +/- exudates posterior or diffuse cervical lymphadenopathy fatigue \+/- hepatosplenomegaly \+/- rash after AMOXiCILLIN
