Presentations Flashcards
(250 cards)
Trigeminal neuralgia
Chronic pain syndrome characterized by transient, recurrent, severe shooting, stabbing pain in the trigeminal nerve distribution
Manifests with pain shooting from mouth to angle of jaw
Triggered by brushing, chewing, cold, touch
Tx with carbamazepine
Koplik spots (measles (rubeola) virus)
Small, irregular red spots on buccal/lingual mucosa with blue white centers
Methylmalonic academia
Branched chain organic acidemia
AR
Caused by defect in methylmalonyl coA mutase (enzyme that convert methylmalonyl coA to succinyl coA)
Causes hyperammonemia by inhibiting urea cycle, inhibits gluconeogenesis, promotes fatty acid oxidation, metabolic acidosis
S/s: metabolic acidosis, branched chain acids in serum, vomiting, poor feeding, failure to thrive, hypotonia, hepatomegaly first few weeks of life
Peyronie disease (connective tissue disorder)
Fibrous plaques in tunica albuginea or penis with abnormal curvature
Immunoglobulin A vasculitis (Henoch Schonlein purpura, affects skin and kidneys)
Palpable purpura on buttocks/legs
Joint pain
Abdominal pain (child)
Hematuria
Scurvy (vitamin C deficiency: cannot hydroxylate proline/lysine for collagen synthesis)
Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
Kaposi sarcoma (assoc with HHV8)
Dark purple skin/mouth nodules in AIDS pts
Whipple disease (Tropheryma whipplei)
Arthralgias Cardiac symptoms Neuro symptoms Adenopathy Diarrhea
Horner syndrome (sympathetic chain lesion)
Ptosis
Miosis
Anhidrosis
Huntington disease (AD CAG repeat expansion)
Chorea
Dementia
Caudate degeneration
Pemphigus vulgaris (blistering)
Anti desmoglein (anti desmosome) abs
Serotonin syndrome treatment
CYPROHEPTADINE (5HT antagonist)
Bernard Soulier disease
AR bleeding disorder
Deficiency of PLATELET GLYCOPROTEIN 1B RECEPTOR
(Normal- GP1b receptor binds vWF in vessels [critical for platelet adhesion] and is involved in platelet production by megakaryocytes.)
- deficiency of GP1b receptor leads to BOTH abnormal platelet aggregation with ristocetin and thrombocytopenia with giant platelets on peripheral smear
presents with petechiae, purpura, menorrhagia, prolonged bleeding with trauma and surgery
Causes decreased platelet count, giant platelets, prolonged bleeding time, normal PT and PTT and abnormal platelet aggregation with ristocetin
Malignant otitis externa
Subtype of otitis externa characterized by necrotizing inflammation of external auditory canal
MC associated with P aeroginosa
Risk factors: poorly control DM and immunosuppression
S/s: severe ear pain, facial droop (indicating progression to osteomyelitis of temporal bone with associated CNVII palsy), fever, tachycardia, and presence of granulation tissue in ear canal
Cholelithiasis
Fat
Female
Forty
Fertile
Klinefelter syndrome
XXY genotype
Tall stature, small atrophic testes, lack of secondary male characteristics, infertility, gynecomastia, MVP
At puberty- seminiferous tubules fail to enlarge normally and undergo fibrosis and hyalinization
Leydig cells are hyperplastic, clumped together, and do not produce testosterone
- testosterone normally feeds back negatively on hypothalamus and anterior pituitary to suppress LH and FSH, inhibin B also suppresses FSH release—>Klinefelter pts have low testosterone, LH and FSH both rise in response to release from feedback inhibition and inhibin B levels are low, allowing FSH to rise
- inhibin B is produced by Sertoli cells in response to testosterone, so levels fall when testosterone production decreases. Inhibin B normally inhibits FSH release from anterior pituitary
Hodgkin’s lymphoma
Localized LAD
Painless cervical LAD
Alcohol induced pain
B symptoms - fever, night sweats, weight loss
Bimodal distribution (3rd and 6-8 decade of life)
LN bx- Reed Sternberg cells (CD15/30 +, polynuclear giant cells that originate from B cells)
Associated with EBV, immunodeficiency (HIV)
Hereditary spherocytosis
Congenital RBC membrane protein defect - loss of outer lipid bilayer and decrease in RBC surface area - sphere shaped RBCs with membrane instability (spherocytes)
Spherocytes get trapped in splenic vasculature—> splenomegaly and destruction by splenic macrophages—> normocytic anemia and jaundice
- increased MHCH
- increased RDW
- signs extravascular hemolysis (high LDH, indirect hyperbilirubinemia)
AD
Family hx positive for splenectomy and/or cholilethiasis at young age
MC affected proteins: SPECTRIN, ANKYRIN, band 3, protein 4.2
Scleroderma (CREST)
Anticentromere antibodies
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mono, CLL)
Painful blue fingers/toes
Hemolytic anemia
Beck’s triad of cardiac tamponade
Distant heart sounds
JVD
Hypotension
Angina (- troponins) or NSTEMI (+ troponins)
Chest pain with ST depressions on EKG
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
Infant with hypoglycemia and hepatomegaly
OA (osteophytes on PIP (Bouchard nodules), DIP (Heberden nodules)
Swollen, hard, painful finger joints in elderly
Pain worse with activity