Classic Presentations 1
Calf psuedohypertrophy
Muscular Dystrophy
(MC Duchenne, X-linked recessive frameshift mutation) (Beckers = X-linked missense)
Pupil accommodates but doesn't react to light
Argyll-robertson pupil in Neurosyphilis
Skin hyperpigmentation, hypotension, fatigue
Primary Adrenocortical Insufficiency (Addison Disease)
Causes increased ACTH and increased alpha-MSH
Rib notching
Coarctation of the aorta
Recurrent infections, eczema, thrombocytopenia
Wiskott-Aldrich syndrome
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
(Can't hydroxylate proline/lysine for collagen synthesis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Painful raised red lesions on pads of fingers/toes
Oslers nodes
(Infective endocarditis, immune complex deposition)
Pathology associated with alternating amplitudes on ECG
Pericardial tamponade (electrical alternans)
Nutmeg appearance of the liver is from chronic passive congestion of the liver due to these two disease processes
Right CHF
Budd-Chiari syndrome
Dilated cardiomyopathy, edema, alcoholism, malnutrition
Wet Beriberi
(B1 deficiency)
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
Smudged WBCs
CLL
These granulomatous heart nodules associated with a GAS infection are also known as _______ ______, which are made of clustered wavy-nuclei macrophages called ______ ________
Aschoff bodies (granuloma with giant cells)
Anitschkow cells (large macrophages with ovoid wavy rod-like nuclei)
Two pathologies causing ring-enhancing brain lesions on CT/MRI in an AIDS patient
Toxoplasma gondii
Primary CNS Lymphoma
Black eschar on the face of a febrile patient with kussmaul respirations
Mucor/rhizopus fungal infection
Three pathologies that present with cherry red macula
Tay-sachs (GM2 ganglioside accumulation)
Niemann-Pick (Sphingomyelin accumulation)
Central retinal artery occlusion
Two pathologies associated with erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
Mycosis fungoides (cutaneous T-cell lymphoma)
Sezary syndrome (mycosis fungoides + malignant T-cells in blood)
Silver-staining spherical aggregation of tau proteins in neurons in a patient with personality changes
Pick bodies
Migratory thrombophlebitis is associated with this one type of cancer in these two organs
Adenocarcinoma of the pancreas
Adenocarcinoma of the lung
(Trousseau sign)
A lesion here causes hyperphagia, hypersexuality, hyperorality, hyperdocility
Bilateral amygdala lesion
(Kluver-Bucy syndrome)
Mutation in ______ signaling causing unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty and multiple endocrine abnormalities
Mosaic G-protein signaling mutation
(McCune-Albright)
Genetic defect and name of pathology causing short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia
Genetic loss of DNA crosslink repair
(Often progresses to AML)
The severity of the pathology associated with a boot-shaped heart on Chest XR is dependent on the degree of
Right ventricular outflow tract obstruction
(Tetrology of fallot)
Translocation associated with sheets of medium-sized lymphoid cells with scattered pale, tingible body-laden macrophages
t(8;14) --> c-myc activation
Burkitt lymphoma, "Starry sky"