Syndromes

Question 1

Name the three granulomatous vasculitides

Answer 1

Takayasu, Wegeners, and eosinophilic granulomatosis with polyangiitis (Churg-Strauss)

Question 2

Beckwith-Wiedmann pathogenesis

Answer 2

Deregulation of imprinted gene expression in chromosome 11p15

Question 3

Beckwith-Wiedmann presentation

Answer 3

Fetal macrosomia, rapid growth until late childhood, omphalocele or umbilical hernia, macroglossia, hemihyperplasia. Wilms tumor and hepatoblastoma are complications.

Question 4

Reye syndrome pathogenesis

Answer 4

Peds aspirin with influenza or VZV

Question 5

Reye syndrome presentation

Answer 5

Acute liver failure and encephalopathy

Question 6

Serum sickness-like syndrome pathogenesis and presentation.

Answer 6

Antibiotic reaction; Fever, urticaria, and polyarthralgia 1-2wks after exposure

Question 7

Wiskott-Aldrich pathogenesis

Answer 7

X-linked recessive, T cell dysfunction

Question 8

Wiskott-Aldrich presentation

Answer 8

Early in infancy with eczema and bleeding due to thrombocytopenia and hypogammaglobulinemia. Bacterial, viral, and opportunistic infections.

Question 9

CHARGE syndrome pathogenesis

Answer 9

Failure of the post nasal passage to canalize completely

Question 10

CHARGE syndrome presentation

Answer 10

Colobama, Heart defects, Atresia choanae, Retardation of growth/development, Genito-urinary anomalies, and Ear abnormalities/deafness

Question 11

HUS pathogenesis

Answer 11

Vascular damage and microthrombi

Question 12

HUS presentation

Answer 12

Fatigue, pallor, schistocytes, thrombocytopenia, AKI

Question 13

Osgood-Schlatters pathogenesis

Answer 13

Traction apophysitis

Question 14

Osgood-Schlatters presentation

Answer 14

Adolescent males or females with knee pain and proximal tibial swelling

Question 15

Kawasaki presentation

Answer 15

Fever >4d plus >3 of following: bilateral nonexudative conjunctivitis, mucositis, cervical lymphadenopathy, erythematous polymorphous rash, extremity changes

Question 16

Kawasaki complications

Answer 16

Coronary artery aneurysms, MI and ischemia

Question 17

Kawasaki tx

Answer 17

Aspirin & IVIG

Question 18

Henoch-Schonlein purpura pathogenesis

Answer 18

IgA-mediated leukocytoclastic vasculitis

Question 19

Henoch-Schonlein purpura presentation

Answer 19

Palpable purpura, arthritis/arthralgia, abdominal pain, intussusceptions, renal disease similar to IgA nephropathy

Question 20

Henoch-Schonlein purpura lab findings

Answer 20

Normal platelet count and coag studies, normal to increased SCr, hmaturia +/- RBC casts +/- proteinuria, normal complement

Question 21

Cryoglobulinemia syndrome pathogenesis & presentation

Answer 21

A manifestation of chronic HepC. Palpable purpura, arthralgias, GN, low complement.

Question 22

Sarcoidosis presentation

Answer 22

Hilar adenopathy, interstitial pulm infiltrates, ant/post uveitis, hepatosplenomegaly, acute polyarthritis, chronic arthritis, AV block, dilated or restrictive cardiomyopathy, Ccentral DI

Question 23

Felty syndrome presentation

Answer 23

RA + leukopenia + splenomegaly

Question 24

Riedel thyroiditis pathogenesis

Answer 24

Progressive fibrosis of thyroid and surrounding tissues.

Question 25

Bacillary angiomatosis

Answer 25

Bartonela henseliae; Vascular cutaneous lesions and systemic symptoms - diagnose with lesions biopsy

Question 26

Trousseau's

Answer 26

Migratory superficial thrombophlebitis. Hypercoagulability. Look for occult malignancy!

Question 27

Conn's syndrome

Answer 27

Primary hyperaldosteronism. HTN, mild hypernatremia, hypokalemia, and metabolic alkalosis.

Question 28

Cryoglobulinemia pathogenesis

Answer 28

Immune complex deposition in small to medium-sized vessesl, leading to endothelial injury and end-organ damage.

Question 29

Cryoglobulinemia presentation

Answer 29

Fatigue, palpable purpura, arthralgias, renal disease, and peripheral neuropathies

Question 30

Werdnig-Hoffman syndrome pathogenesis

Answer 30

Aut rec. Degeneration of anterior horns cells and cranial nerve motor nuclei. "Floppy baby" syndrome.

Question 31

Myotonic congenital myopathy

Answer 31

Aut dom. Presents with muscle weakness and atrophy (distal muscles), moyotonia, testicula atrophy, and baldness. Cataracts, conduction abnormalities.

Question 32

Wegener's granulomatosis pathogenesis and presentation

Answer 32

Necrotizing pulm vasculitis. Fever, weight loss, rhinosinusitis

Question 33

Waldenstrom macroglobulinemia presentation

Answer 33

Hyperviscosity syndrome, neuroapathy, bleeding, hepatosplenomegaly

Question 34

Waldenstrom macroglobulinemia lab findings

Answer 34

sharp IgM spike, >10% clonal B cells on bone marow bx

Question 35

Myxedema coma (severe hypothyroidism) presentation

Answer 35

Decreased mental status, hypothermia, bradycardia,

Question 36

Does HCTZ increase or decrease urinary Ca excretion?

Answer 36

Decreases - used to treat recurrent Ca stones

Question 37

Does furosemide increase or decrease urinary Ca excretion?

Answer 37

Increases - increased risk of Ca nephrolithiasis

Question 38

What is Cushing's reflex

Answer 38

HTN, bradycardia, and respiratory depression - indicates elevated ICP

Question 39

Presentation of DiGeorge

Answer 39

Congenital heart disease, facial dysmorphia, thymic hypoplasia, cleft palate, and hypocalcemia

Question 40

Presentation of polyarteritis nodosa

Answer 40

Systemic symptoms, skin findings (livedo reticularis, purpura), kidney dz, abd pain, and muscle aches or weakness; elevated CRP

Question 41

Presentation of Sturge-Weber

Answer 41

Focal/generalized seizures, mental retardation, port wine stain or nevus flammeus on trigeminal n.

Question 42

Presentation of Whipple's disease

Answer 42

White middle-aged man with abd pain, diarrhea, malabsorption w/ distention flatulence and steatorrhea. Extraintestinal manifestations include polyarthropathy, chornic cough, and myocardial or valvular involvement leading to CHF or valvular regurgitation.

Question 43

Ludwig angina

Answer 43

Cellulitis of submandibular space - usu from dental infections

Question 44

Waterhouse-Friderichsen syndrome

Answer 44

Adrenal hemorrhage in meningococcemia. Sudden vasomotor collapse and skin rash.

Question 45

Presentation of leukocytoclastic vasculitis

Answer 45

dd

Question 46

Adult Still disease

Answer 46

Recurrent high fevers, arthritis/arthralgias, and salmon-colored macular or maculopapular rash

Question 47

Lynch syndrome

Answer 47

Colorectal, endometrial, ovarian

Question 48

FAP

Answer 48

Colorectal, desmoids and osteomas, brain tumors

Question 49

VHL

Answer 49

Hemangioblastomas, clear cell renal carcinoma, pheochromocytoma

Question 50

MEN type 1

Answer 50

Pituitary adenomas, parathyroid hyperplasia, pancreatic adenomas (diamond)

Question 51

MEN type 2A

Answer 51

Parathyroid hyperplasia, pheochromocytoma, medullary thyroid cancer (square)

Question 52

MEN type 2B

Answer 52

Medullary thyroid cancer (calcitonin), pheochromocytoma, mucosal neuromas/marfanoid habitus (triangle)