Syndromes Flashcards
Name the three granulomatous vasculitides
Takayasu, Wegeners, and eosinophilic granulomatosis with polyangiitis (Churg-Strauss)
Beckwith-Wiedmann pathogenesis
Deregulation of imprinted gene expression in chromosome 11p15
Beckwith-Wiedmann presentation
Fetal macrosomia, rapid growth until late childhood, omphalocele or umbilical hernia, macroglossia, hemihyperplasia. Wilms tumor and hepatoblastoma are complications.
Reye syndrome pathogenesis
Peds aspirin with influenza or VZV
Reye syndrome presentation
Acute liver failure and encephalopathy
Serum sickness-like syndrome pathogenesis and presentation.
Antibiotic reaction; Fever, urticaria, and polyarthralgia 1-2wks after exposure
Wiskott-Aldrich pathogenesis
X-linked recessive, T cell dysfunction
Wiskott-Aldrich presentation
Early in infancy with eczema and bleeding due to thrombocytopenia and hypogammaglobulinemia. Bacterial, viral, and opportunistic infections.
CHARGE syndrome pathogenesis
Failure of the post nasal passage to canalize completely
CHARGE syndrome presentation
Colobama, Heart defects, Atresia choanae, Retardation of growth/development, Genito-urinary anomalies, and Ear abnormalities/deafness
HUS pathogenesis
Vascular damage and microthrombi
HUS presentation
Fatigue, pallor, schistocytes, thrombocytopenia, AKI
Osgood-Schlatters pathogenesis
Traction apophysitis
Osgood-Schlatters presentation
Adolescent males or females with knee pain and proximal tibial swelling
Kawasaki presentation
Fever >4d plus >3 of following: bilateral nonexudative conjunctivitis, mucositis, cervical lymphadenopathy, erythematous polymorphous rash, extremity changes
Kawasaki complications
Coronary artery aneurysms, MI and ischemia
Kawasaki tx
Aspirin & IVIG
Henoch-Schonlein purpura pathogenesis
IgA-mediated leukocytoclastic vasculitis
Henoch-Schonlein purpura presentation
Palpable purpura, arthritis/arthralgia, abdominal pain, intussusceptions, renal disease similar to IgA nephropathy
Henoch-Schonlein purpura lab findings
Normal platelet count and coag studies, normal to increased SCr, hmaturia +/- RBC casts +/- proteinuria, normal complement
Cryoglobulinemia syndrome pathogenesis & presentation
A manifestation of chronic HepC. Palpable purpura, arthralgias, GN, low complement.
Sarcoidosis presentation
Hilar adenopathy, interstitial pulm infiltrates, ant/post uveitis, hepatosplenomegaly, acute polyarthritis, chronic arthritis, AV block, dilated or restrictive cardiomyopathy, Ccentral DI
Felty syndrome presentation
RA + leukopenia + splenomegaly
Riedel thyroiditis pathogenesis
Progressive fibrosis of thyroid and surrounding tissues.
Bacillary angiomatosis
Bartonela henseliae; Vascular cutaneous lesions and systemic symptoms - diagnose with lesions biopsy
Trousseau’s
Migratory superficial thrombophlebitis. Hypercoagulability. Look for occult malignancy!
Conn’s syndrome
Primary hyperaldosteronism. HTN, mild hypernatremia, hypokalemia, and metabolic alkalosis.
Cryoglobulinemia pathogenesis
Immune complex deposition in small to medium-sized vessesl, leading to endothelial injury and end-organ damage.
Cryoglobulinemia presentation
Fatigue, palpable purpura, arthralgias, renal disease, and peripheral neuropathies
Werdnig-Hoffman syndrome pathogenesis
Aut rec. Degeneration of anterior horns cells and cranial nerve motor nuclei. “Floppy baby” syndrome.
Myotonic congenital myopathy
Aut dom. Presents with muscle weakness and atrophy (distal muscles), moyotonia, testicula atrophy, and baldness. Cataracts, conduction abnormalities.
Wegener’s granulomatosis pathogenesis and presentation
Necrotizing pulm vasculitis. Fever, weight loss, rhinosinusitis
Waldenstrom macroglobulinemia presentation
Hyperviscosity syndrome, neuroapathy, bleeding, hepatosplenomegaly
Waldenstrom macroglobulinemia lab findings
sharp IgM spike, >10% clonal B cells on bone marow bx
Myxedema coma (severe hypothyroidism) presentation
Decreased mental status, hypothermia, bradycardia,
Does HCTZ increase or decrease urinary Ca excretion?
Decreases - used to treat recurrent Ca stones
Does furosemide increase or decrease urinary Ca excretion?
Increases - increased risk of Ca nephrolithiasis
What is Cushing’s reflex
HTN, bradycardia, and respiratory depression - indicates elevated ICP
Presentation of DiGeorge
Congenital heart disease, facial dysmorphia, thymic hypoplasia, cleft palate, and hypocalcemia
Presentation of polyarteritis nodosa
Systemic symptoms, skin findings (livedo reticularis, purpura), kidney dz, abd pain, and muscle aches or weakness; elevated CRP
Presentation of Sturge-Weber
Focal/generalized seizures, mental retardation, port wine stain or nevus flammeus on trigeminal n.
Presentation of Whipple’s disease
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.
Ludwig angina
Cellulitis of submandibular space - usu from dental infections
Waterhouse-Friderichsen syndrome
Adrenal hemorrhage in meningococcemia. Sudden vasomotor collapse and skin rash.
Presentation of leukocytoclastic vasculitis
dd
Adult Still disease
Recurrent high fevers, arthritis/arthralgias, and salmon-colored macular or maculopapular rash
Lynch syndrome
Colorectal, endometrial, ovarian
FAP
Colorectal, desmoids and osteomas, brain tumors
VHL
Hemangioblastomas, clear cell renal carcinoma, pheochromocytoma
MEN type 1
Pituitary adenomas, parathyroid hyperplasia, pancreatic adenomas (diamond)
MEN type 2A
Parathyroid hyperplasia, pheochromocytoma, medullary thyroid cancer (square)
MEN type 2B
Medullary thyroid cancer (calcitonin), pheochromocytoma, mucosal neuromas/marfanoid habitus (triangle)
