Boards Flashcards
What is MELAS
- mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)
- childhood-onset myopathy, seizures, recurrent vomiting, migrainous headaches, sensorineural hearing loss, stroke-like episodes associated with periods of regression
What is Menkes disease
- copper transport disorder
- infants appear developmentally normal until approximately 2 to 3 months of age followed by progressive developmental regression, low tone, feeding difficulties, failure to thrive, and seizures.
- “kinky,” and hypopigmented hair.
- low copper and ceruloplasmin levels.
When to give measles immunoglobulin?
-Infants younger than 6 months, pregnant women, individuals with immunocompromising conditions, or individuals who received a previous dose less than 28 days prior
- high risk pts for PCV13 and PPSV23 vac schedule
In children aged 6 through 18 years at high risk of pneumococcal disease who have not received any doses of PCV13 or PPSV23, administration of 1 dose of PCV13 followed by 1 dose of PPSV23 at least 8 weeks later and a second dose of PPSV23 5 years after the first is recommended
diagnosis of acute bacterial sinusitis
Persistence of symptoms beyond 10 days without improvement
Worsening of symptoms or new onset of symptoms after initial improvement
Severe symptoms at onset lasting for 3 consecutive days
meds for bite for allergic to penicillin
clindamycin. + 3rd gen cephalosporin
what group of metabolic disorders have: normal or high ammonia high anion gap metabolic acidosis neutropenia
1) Organic acidemia
ex.
propionic Acidemia (elevated propionic acid and methylcitrate on urine)
and Methylmalonic Acidemia(elevated methylmalonic acid)
TTP
Cause:
Labs:
Tx:
antibodies againstADAMTS13
increased LDH, bili and BUN, decreased plts, schiztocytes
tx plasmapheresis and steroids
apical systolic murmur with a mid systolic click
mitral regurg
cyanotic heart disease with left axis deviation
tricuspid atresia
acyanotic heart disease with left axis deviation
AV canal defect
hyper IgM is characterized by
repeated episodes of pneumonia and sinusitis. at particular risk for PCP pneumonia
Symptoms of Klebsiella granulomatis vs Treponema pallidum vs Haemophilus ducreyi vs Chlamydia trachomatis
Haemophilus ducreyi (chancroid)- painful shallow ulceration with painful inguinal lymphadenopathy
Treponema pallidum- painless ulcer no lymphadenopathy
Klebsiella granulomatis (lymphogranuloma inguinal)- painless ulcer without regional lymphadenopathy (usually hx of travel to india, south africa etc)
Chlamydia trachomatis- painless ulcer with painful lymph nodes 4-6 weeks later (
(hx of travel to tropical areas)
what group of metabolic disorders have: High ammonia and Normal anion gap and Respiratory alkalosis
Urea cycle disorder
get plasma amino acids to confirm
MC type is ornithine transcarbamylase deficiency. shows elevated urine orotic acid and low or absent citrulline
what group of metabolic disorders have:
normal ammonia
and
normal anion gap
aminoacidopathies or galactosemia
critical labs to draw while pt is hypoglycemic
glucose, insulin, c-peptide, ketones, growth hormone and cortisol
11B-hydroxylase deficiency vs 21-hydroxylase deficiency
11B-hydroxylase deficiency- hypertension and increased androgens (think of the two 1s as two up arrows)
21-hydroxylase deficiency has increased adrogens and salt wasting
HPV when can it begin and what age do you have to do the 3 dose series
- Can being at 9 years if abused
- At 1`5 or above needs 3 doses
When to test for reinfection after gonorrhea tx
in 3 months
teen STD screening
- screen annually for GC in females
- Screen males if hx of STI or areas of high prevalence
- HIV once for everyone, HIV yearly if high risk
schistosome parasite
swimmers itch
from snail larvae in fresh water
when does babinski reflex stop
can be up going until 1 year
Hib prophylaxis
single case of Hib as long as they immunized no prophylaxis
double hib, 20 mg/kg/day for 4 days
Anti DNase B vs antistreptolysin O
Anti DNase-impetigo
Anti streptolysin- strep throat
CGD
1-test
2-presentation
Neutrophil function test/DHR
Presents with recurrent bacterial and fungal infections and granulomas
(Defect in phagocyte NADPH oxidase)
Blount disease
Disruption of normal cartilage at medial aspect of proximal tibia. Progressively worse bowing as child walks
MEN2B
Presentation
Tall, thin, mucosal neuromas, hyper mobility, intermittent constipation and diarrhea
100% will develop medullary thyroid carcinoma
Also associated is pheichromocytona
Modified DUKE criteria
Major:
- POS bcx
- evidence of endocardial involvement
Minor
- Predisposing factor
- temp >48
- Vascular phenomenon
- Immunologic phenomena
- Microbiological evidence
Need 2 major+1 minor
Or 1 major + 3 minor
What to do with dyslipidemia in pts
- first confirm with another flp
- if LDL 130-249
- life styles changes, pharmacotherapy if >10 years, look for other causes
- if LDL >249
- refer to a lipid specialist
TST test positive
- who is positive if >5mm
- who is positive if >10 mm
- Close contact with TB, clinical evidence of TB and immunosuppressive conditions or tx
2. <4 yrs - born or travel to high risk areas - exposure to high risk adults - other medical conditions (DM, chronic renal failure, malnutrition)
***Prior BcG does not alter interpretation of results (but still better to get IGRA if >2 yearsº
When is peak growth velocity in males and females
stage 4 for males, stage 3 for females
what drugs decrease the efficacy of oral contraceptives?
Rifampin
Anticonvulsants (except levetiracetam)
Most retrovirals
What do OCP due to Thyroxine binding globulin
OCPs increase Thyroxine binding globulin therefore need to look at FREE t3 and T4 not total
electrolyte changes in refeeding syndrome
low phosphate, low potassium, low magnesium
criteria for hospitalization for anorexia
- weight <75% average body weight
- hypotension or orthostatic BP
- HR <45 or dysrhythmia
- Edema and/or heart failure
- electrolyte imbalances
Hydrocele description
1) when to repair?
soft, painless asymptomatic mass anterior to the testis
1) repair if not resolved by 1 year of age
Spermatocele description
non-painful cyst located at the head of the epididymis, distinct from the testis
Acute painful scrotum differential diagnosis
torsion of the testis torsion of the appendix testis epididymis orchitis Incarcerated hernia
description of neoplasms of the testicle
firm, painless, irregular mass WITHIN the testes or INDISTINGUISHABLE from the testes
Sunburst pattern in bone
Osteosarcoma
Ludwig’s angina
Polymicromibal (oral flora) cellulitis of the submandibular and sublingual spaces
Presents with fever, severe dysphasia, trismus and stuff neck
Usually a complication of the mandibular molar roots
Tx with ampicillin/Sulbactam
Vit K deficiency, factors affected and labs
2,7,9 and 10.
PT and PTT prolonged
lemierre disease presentation
Fevers, resp distress, trismus, dysphasia, decreased range of motion of the neck, peritonsillar swelling, and tenderness, swelling erythema overlying the jugular vein and angle of the jaw
Watch for septic emboli to the lungs
primary amenorrhea definition
- no secondary sexual characteristic by 13
- no period by 15
- or no period by 3 years after onset of breast development
Functional hypothalamic amenorrhea
like in girls who are excessively exercising
will have decreased GcRh secretion low or normal LH
Amenorrhea with no breast development, differential based on FSH:
High FSH
Normal FSH
Low FSH
High FSH- ovarian failure
Normal FSH- intact HPA axis (get US)
Low FSH- hypothalamic or pituitary causes
Androgen Insensitivity vs swyer syndrome
both: no period, no pubic har
Androgen Insensitivity- normal male testosterone levels
swyer syndrome- little to no testosterone
BV vs Trichomoniasis
both have pH >4.5
Trichomoniasis: strawberry cervix, flagellated pear shaped motile organisms, need to tx sexual partners
BV: clue cells, fishy odor, don’t need to tx sexual partners,
MDMA toxicity
- Waterloading is seen because of use during rave parties, sweating, hyperthermia, seizures, SIADH
X-linked agammaglobulinemia (Bruton agammaglobulinemia)
cause:
testing:
treatment:
Cause: mutation in bruton tyrosine kinase, which arrests B cells in pre-bcell stage
testing: Flow cytometry with no showed any CD19 because there are no mature B cells
tx: IVIG
CVID
cause:
testing:
treatment:
Cause: Mature Bcells are unable to differentiate into plasma cells
testing: flow cytometry-CD19 are present but have low antibody levels (but cannot call it CVID until 5 years of age because of transient immunoglobulinemia of infancy)
Tx: IVIG
Specific Antibody Deficiency
Cause:
Testing:
treatment:
Cause: make antibody but it doesn’t function well
testing: Flow cytometry CD19 present, normal antibody levels, poor vaccination response
tx: IVIG
X-linked Hyper-IgM syndrome
cause:
testing:
treatment:
cause: inability to class switch from IgM to IgG or IgA because don’t have CD40 and T cells cannot communicate properly with B cells and macrophages. They are susceptible to sinopulmonary infections and PCP
testing: Flow cytometry shows no CD40L, high IgM and low IgG and IgA
tx: IVIG and bactrim PCP prophylaxis and eventually BMT
X-linked Lymphoproliferative Syndrome
presentation:
overwhelming, near-fatal infection with EBV (fulminant hepatitis and BM failure) progresses to lymphoma
SCID
presentation:
testing:
treatment:
Presentation: presents in the 1st few months of life: FTT, chronic diarrhea, chronic lung infections, no thymus shadow. Presents with every type of infection because have defect in Bcell fn and Tcell fn
testing: Depends on the type of SCID, examples: molecular analysis or low adenosine deaminase in RBCs
tx: BMT
Bloom Syndrome
presentation:
small stature, telangiectasia, CNS abnormalities and immunodeficiency
Nijmegen Breakage Syndrome
cause:
presentation:
cause: can’t make nibrin which helps to repair damage to dsDNA
presentation: “bird-like” facies, microcephaly, near normal IQ, immunodeficiency
Job syndrome (hyper IgE syndrome)
presentation:
cause: neutrophils fail to adhere to the endothelium and enter the tissues
presentation: recurrent abscesses esp with staph aureus, eczema, scoliosis, delayed eruption or primary teeth, pneumatoceles
Chediak Higashi Syndrome
cause:
presentation:
testing:
cause: impaired lysosome degranulation
presentation: recurrent cutaneous and sinopulmonary infections, partial oculocutaneous albinism, ID, progressive neuropathy
testing: peripheral smear shows giant granules
Tumor lysis affect on calcium and why
Hypocalcemia, because lysis of cells releases phosphorus which then bonds to the serum calcium (the calcium phosphate can then damage the kidneys)
Type I allergic reactions
-immediate, IgE mediated
Type II allergic reactions
- cytotoxic, IgM or IgG mediated
ex: goodpasture syndrome, myasthenia gravis, autoimmune hemolytic anemia
Type III allergic reactions
- immune complex
ex: Vasculitis, serum sickness
Type IV allergic reactions
- Delayed, T-cell mediated
occurs 24-72 hours after
ex: poison IVY, TB test
serum sickness
time frame:
sx:
time frame: 1-3 weeks after administration of drug (venom stings can also cause this)
sx: fever, rashes (serpiginous rash of hands and feet and urticaria, purple urticaria), joint pain, lymphadenopathy, n/v
Urticarial Vasculitis
sx:
dx:
sx: hives last >24 hours in a fixed location, may see residual ecchymosis, hyperpigmentation or purpura when gone.
Hives don’t itch, they are tender and burn
dx: skin biopsy, decreased C3/C4 and antibodies to C1q
Type 1 Drug reaction
timing:
example:
IgE mediated causes urticaria, anaphylaxis
timing: within minutes to hours
example: penicillin
Type II drug reaction
timing:
example:
cytotoxic reaction (mediated by IgG or IgM)
timing: Days
example: drug-induced hemolytic anemia and thrombocytopenia secondary to penicillin, methyldopa or cephalosporins
Type III drug reaction
timing:
example:
immune-complex mediated
timing: 1-3 weeks after drug initiation
example: Get fever, rash, urticaria, lymphadenopathy
serum sickness
Type IV drug reaction
timing:
example:
Delayed type (mediated by drug specific T lymphocytes)
timing: 48-72 hours
example: contact dermatitis (neomycin, local anesthetics, topical antihistamines)
DRESS Syndrome
sx/timeline:
Drugs:
Tx:
eosinophilia and systemic symptoms 2 to 8 weeks after starting a drug
drugs: anticonvulsants, sulfonamides, allopurinol
tx: stop the drug and steroids
Tx for radiocontrast reaction
pre med with prednisone and diphenhydramine
screening test for systemic macrocytosis
tryptase level
Right atrial enlargement vs left atrial enlargement on EKG
right-tall
left-wide
adenosine mechanism of action
miscellaneous anti-arrhythmic, works on AV node and
amiodarone mechanism of action
class III anti-arrhythmic. Blocks potassium rectifier currents that are responsible for repolarization of the heart
Causes of fixed splitting
ASD, right bbb, or severe pulmonary stenosis
Myasthenia graves pathophysiology
Antibodies against post synaptic ach receptors which decrease the amount of receptors
Juvenile myoclonic epilepsy vs benign rolandic epilepsy
JME: combo of myoclonic jerks, generalized tonic clinic seizures or absence seizures that usually occur early in the morning or while waking. EEG shows generalized poly spike and wave discharges ar 4 to 6 hz. Lifelong. Required drugs.
BRE (also called benign focal epilepsy of childhood): presents btw 5to10years old. Focal seizures during sleep (unilateral facial twitching, pro facial paresthesias and speech arrest). Have preserved consciousness. Centrotemporal benign focal discharges on EEG. Usually out grow, usually no meds needed
Zero order kinetics
zerO order: Oversaturated
Loop diuretics
examples:
MOA:
Electrolyte disturbances:
examples: furosemide and bumetanide
MOA: inhibit Na+,K+, Cl- co-transporter
Electrolyte disturbances: hypokalemia, hypochloremia, hyponatremia, hypocalcemia and metabolic alkalosis
thiazide diuretics
MOA:
Electrolyte disturbances:
Examples:
MOA: block Na and Cl resorption (therefore more NA reaches the distal tubes where it is exchanged for potassium)
Electrolyte disturbances: decreased Na and increase Ca
Dopamine
mechanism of action:
effects:
mechanism of action: stimulates B1, increases release of Norepi and decreases degradation of norepi
effects: increased myocardial activity, at high doses is an alpha agonist and causes vasoconstriction
Dobutamine
MOA:
B1 and mild vasodilation
Epi
MOA:
stimulations alpha and beta (more alpha at high doses)
Milrinone
MOA:
phosphodiesterase inhibitor and has positive ionotropic and vasodilator effects
Digoxin
MOA:
toxicity:
mechanism of action: inhibiting NA+/K+-ATPase, intracellular NA rises which causes activation of the NA/Ca exchanger, and the subsequent rise in Ca increased inotropic action
toxicity: N/v, diarrhea, color vision changes, confusion and arrhythmias (AV block, SVT or VT)
ASD murmur
no murmur from flow across ASD because the right and left atria have very similar pressures, but you hear a murmur from the increased flow across the right ventricular outflow tract.
crescendo decrescendo murmur loudest at the left upper sternal border
organophosphate poisoning
MOA:
SEs:
tx:
MOA: inactivates acetylcholinesterase, leading to increased Ach in parasympathetic nervous system
SEs: stimulation of both nicotinic and muscarinic receptors. At low doses, the muscarinic symptoms predominate, including the “SLUDGE” symptoms of salivation, lacrimation, urination, diarrhea, gastrointestinal cramping, and emesis.
TX: atropine
Extrinsic pathway clotting factors
1, 2,7,10
Hypocalcemia ekg findings
Prolonged QTc
hyperchloremic metabolic acidosis is a form of…
normal anion gap metabolic acidosis
normal osmolarity gap
<10 (if bigger than that in AG metabolic acidosis think toxic alcohols)
Urine anion gap calculation
what does it mean?
UAG= NA+K-Cl
If>10—> low NH4+ excretion think RTA (distal, type 1 is trouble excreting acid)
If<0–> high NH4+ excretion think Diarrhea
winter formula
use for acidosis or alkalosis?
PCO2=1.5 x bicarb+8 +/-2
use for acidosis
expected COs for metabolic alkalosis
PCO2=0.7 x(bicarb-24)+40 +/-2
CHARGE
Coloboma Heart Atresias of the Choanae Retarded growth Genitourinary malformations Ear malformations
VACTERL
Vertebral defects Anal atresia Cardiac defects Tracheo-Esophageal fistula, Renal anomalies Limb abnormalities.
HUS
what is it?:
sxs:
tx:
what is it?: thrombotic microangiopathy following shiga toxin producing E coli diarrhea
sxs:
microangiopathic hemolytic anemia
thrombocytopenia
AKI
GI involvement (intussusception, rectal prolapse, pancreatitis, bowel perforation)
tx: supportive care
hematuria differential:
low complement:
Postinfectious glomerulonephritis
Membranoproliferative
Lupus nephritis
normal complement: IgA nepropathy HSP Vasculitis (MPA, GPA) Anti-GBM disease (like thin basement membrane disease, aport syndrome, etc)
proteinuria differential:
- Transient
- Orthostatic/postural (first thing in the morning negative for protein)
- Persistent (actual renal disease, DM etc)
nephrotic syndrome differential
- MCD (more likely in younger children)
- Focal segmental glomerulosclerosis (more likely in older children)
- Membranous nephropathy (rare in children)
Denys-drash Syndrome
- steroid resistant infantile nephrotic syndrome
- XY gonadal dysgenesis and ambiguous genitalia
- Wilms tumor
Nail-patella syndrome
- hypoplasitic patella, dysplasia of elbows, iliac horns
- dystrophic nails
- microhematuria and proteinuria, 10% develop ESRD
AD polycystic kidney disease vs multi cystic dysplastic kidney
for multi-cystic dysplastic kidney the cyst will be present at birth and go away with time (AD will only have one or two cysts at birth and will get worse with time)
Prophylaxis for cluster headaches
Verapamil
AD polycystic kidney disease vs multi cystic dysplastic kidney
for multi-cystic dysplastic kidney the cyst will be present at birth
Fanconi Anemia
hypergimented intertriginous areas, cafe-au-lait spots, absent of hypoplastic radii bone marrow is hypocellular with fatty infiltrate.
Valgus and varus normal ages
Varus birth to 2 years
Valgus 2 to 4 years
Bone findings in rickets
Widening of the growth plate, enlargement of the wrists and ankles, craniotabes
Bartonella henselae
Sxs:
Sxs: tender regional lymphadenopathy and tender erythematous papules, malaise, low fever, nausea, headache. Can get micro abscess in liver or spleen.
Minimum length between varicella doses
3 months
symptoms of Bardet-biedl syndrome
Obesity, retinitis pigmentosa, hypogonadism, intellectual disability, polydactyly, medullary cystic dysplasia
Acute interstitial nephritis
symptom:
causes:
symptoms: AKI, fever, rash, eosinophilia
causes: Penicillins, cephalosporins, NSAIDS, thiazides
Fanconi Syndrome
symptoms:
Proximal RTA, hypophosphatemia, hypokalemia, aminoaciduria
AKI approach
FeNa: (SCr × UNa ) / (SNa × UCr)
Prerenal: FeNa <1% , Ur osm >400
Renal: FeNa >1%, Ur Osm 300-350
Tularemia
sxs:
sxs: regional lymphadenopathy with or without a painful ulcer at the site of inoculation, fever, hepatosplenomegaly, anorexia. Association with rabbits, beavers and muskrats
tx: gentamicin or streptomycin for 10 days
vertical nystagmus is associated with
demyelinating diseases, tumors and increased ICP
Autoimmune hepatitis antibodies
ANA and antiSMA
Labs: hypergammaglobulinemia elevated AST and ALT
Dietary recommendations for calcium oxalate stones
Decreased vit C intake because increased vit C can increase the amount of oxalate in the urine
Congenital varicella sxs
Hypoplastic extremities, microphthalmia, cataracts, chorioretinitis
Congenital syphilis findings
Frontal bossing, saddle nose, interstitial keratitis (will show corneal clouding), hutchingson teeth anterior bowing of the shins
Shwachman-Diamond Syndrome sxs
exocrine pancreatic insufficiency, cyclic neutropenia +/- thrombocytopenia, bifid thumbs
Medium-chain acyl-CoA dehydrogenase deficiency disorder (MCADD)
what is it:
presentation:
management:
what is it: disorder of fatty acid oxidation
presentation: vomiting, dehydration, lethargy, and seizures, usually presents during an infection
management: high carb diet (because prolonged fasting leads to hypoglycemia and then they body turns to ketogenesis) and restricting medium-chain triglycerides
Yellow fever
symptoms:
travel to africa and south america
fever, headache and myalgias remission and then worsening symptoms including jaundice, parotitis, and multiple organ dysfn
PHACES syndrome
Posterior fossa abnormalities hemangiomas arterial anomalies cardiac lesions eye or endocrine abnormalities supraumbilical raphe or sternal cleft
should get an ECHO and MRI
physiologic anemia of infancy
cause:
hgb level:
age:
cause: increased oxygenation after birth that results in decreased erythropoiesis
hgb level: 9 to 11
age: 6 to 9 weeks
Hemolytic transfusion reaction symptoms
fever/chills, headache, nausea, chest pain, oozing from transfusion site, dark urine, hypotension
tx: hydration to protect kidney’s and may need furosemide to keep good urine output
HLH
presentation:
febrile illness with multiorgan involvement, pancytopenia, suggestion of liver involvement, and very high levels of ferritin
Loss of which urinary proteins predisposes patients with nephrotic syndrome to thromboses?
Antithrombin III and protein S
lab triad with NEC
Hyponatremia, hyperglycemia, thrombocytopenia
hand, foot and mouth vs herpangina
hand, foot and mouth (coxsackievirus A16 or enterovirus 71): ulcerations are on the tongue and buccal mucosa). Do supportive care and resolves in 7 to 10 days
Herpangina: coxsackievirus A or B or echoviruses. It presents with oral lesions without any skin involvement
Second impact syndrome
Uncommon yet serious complication of repeated closed head injury resulting from a second episode of closed head injury while the patient is still symptomatic from an initial concussion event. See rapid mental deterioration, mental status changes, and uncal herniation, and has a mortality rate of 70% to 80%
causes of non-ketotic hypoglycemia
hyperinsulinism and fatty acid oxidation defects such as medium-chain acyl-CoA dehydrogenase deficiency (MCADD). In these conditions, patients cannot generate energy via oxidative phosphorylation in the tricarboxylic acid cycle, and cannot produce ketones to provide fuel for the brain and other organs
stickler syndrome
also called: hereditary arthro-ophthalmopathy
Stickler syndrome is a connective tissue disorder that is associated with midfacial hypoplasia, cleft palate, Pierre Robin sequence, hearing loss, and abnormalities of the eye.
TENET
what is it for:
labs:
Intrinsic pathway
see prolonged ptt
Twelve Eleven Nine Eight Ten
prolonged PT but not PTT
deficiency of factor 7
prolonged PTT but not PT
deficiency of factors 11, 9 and 8 (12 and lupus anticoagulant but they aren’t clinically significant)
prolonged both PT and PTT
factor ten deficiency
when can you give just one dose of hib
15 to 60 months
PHACE
posterior fossa abnormalities hemangioma Arterial malformations cardiac malformation eye and endocrine abnormalities
Bernard-Soulier syndrome vs Glanzman
Both have macrocytic plts
Bernard-Soulier syndrome- deficiency of glycoprotein 1b in the platelet membrane. platelets do not aggregate correctly. Mild thrombocytopenia
Glanzman- defect in the platelet glycoprotein IIb/IIIa fibrinogen complex. The platelet count is NORMAL. but platelets do not aggregate
osler-weber-rendu syndrome
hereditary hemorrhagic telangiectasia
spots on lips, vascular malformations of the lungs, CNS, and GI
holt oram syndrome also called
heart hand syndrome
when is 1 PCV13 needed
unvaccinated 24 months to 59 months
AFP prenatal screening high and low
high: Renal stuff Abdominal wall defects Incorrect dating, multiples Neural tube defects
low:
trisomy 18 or 21
when you get hypoketotic hypoglycemia think of
fatty acid oxidation disorder. Types of fatty acid oxidation disorders include deficiencies in medium chain acyl-coA dehydrogenase (MCAD), long chain acyl-coA dehydrogenase (LCAD), and very long chain acyl-coA dehydrogenase (VLCAD).
Diagnosis is made by obtaining a plasma carnitine and acylcarnitine profile.
chronic lymphocytic thyroiditis
Hashimoto thyroiditis
high levels of antithyroid peroxidase antibodies and antithyroglobulin antibodies.
Most patients with chronic lymphocytic thyroiditis are euthyroid and only present with a firm and nontender goiter found on a routine examination without other symptoms
Hurler syndrome
deficient alpha-L-iduronidase activity in leukocytes
developmental delay and recurrent ear, sinus, and pulmonary infections d ue to thick secretions. Eventually, the patient develops coarse facial features, corneal clouding, umbilical or inguinal hernias, growth failure, cardiomyopathy, joint contractures, and neurodegeneration
tx for psoriatic arthritis
methotrexate
MC presentation for Francisella tularensis
Ulceroglandular syndrome (maculopapular lesion at the site of the tick bite which ulcerates with painful inflammed regoinal lymph nodes
linear igA bullous dermatosis
blistering disorder that resolves spontaneously prior to puberty. bilsters form annular lesions that resemble a “string of pearls” which surround a central crust
lichen striatus
grouped 2 to 5 mm pink yo hypo-pigmented, flat-topped papules in a curvilenear distribution. self limited. no tx required topical corticosterois may help if there is any itching
autoimmune hepatitis types
i: female adolescent with sudden onset jaundice, negative viral studies, no meds and no stones. ANA and anti smooth muscle antibodies are positive.
ii: young children, fever , fatigue, RU’Q pain, transaminases, bili, ggt and alp are elevated. antiliver kidney microsomal antibody is positive
metatarsus adductus vs talipes equinovarus
metatarsus adductus: adducted forefoot with a normal hindfoot
talipes equinovarus: foot that rests in rigid equinovarus position and cannot be passively corrected to a neutral position
tx for hypoparathyroidism
calcitriol and calcium
HIDS (hyper immunoglobulin D syndrome)
mutation in MVK gene leading to excessive production of interluekin 1
periodic fever syndrome with fevers for 3 to 7 days occurring every 1 to 2 months, abd, vomiting, nondestructive arthritis, rash, can get ulcers and splenomegaly during fevers
dutch and french descent
PFAPA
fever 5 to 7 days
joint pain, abd pain, rash, headache, vomiting or diarrhea
every 4 weeks
FMF
familial mediterranean fever
AR, MERV on chromosome 16
can benefit from IL1 inhibition, tx with colchicine
fever from hours to 5 days
pleuritis, pericarditis and scrotal swelling, rash, arthritis, mylagias
concern is amyloidosis if not treated
TRAPS
TNF receptor 1 associated periodic syndrome
fever 5 days to 2 weeks
conjunctivitis and periorbital edema, abd pain, migratory mylagias
tx NSAIDS, prednisone, etanercept (TNF inhibitor) and anakinra
early onset neonatal hypocalcemia
<72 hours prematurity maternal DM maternal hyperparathyroidism IUGR sepsis hypomag RDS
late onset neonatal hypocalcemia
>72 hours vit D deficiency with hypomag hypoparathyroidism high phosphorus load pseudohypoparathyroidism (PTH resistance)
