ESSENTIAL EPONYMS

Acute Rheumatic Fever - pathogenesis: molecular mimicryanti-group A

streptococcus antibodies attack host antigens on cardiac and neuronal tissue
approximately 2-4 weeks after acute pharyngitis.[Specifically, antibodies
directed against group A strep antigens, M protein and N-acetyl-beta-Dglucosamine, subsequently attack myosin which is a cardiac protein and
lysoganglioside which is a neuronal cell surface protein. Clinical features
include: migratory arthritis, pancarditis, sydenham chorea(non-rhythmic
movements of hands and feet and face), sudden changes in pitch and
volume of voice. Sometime erythema marginatum. Mitral
regurgitation/stenosis if left untreated.
Albinism - tyrosinase deficiency.
alpha1-antitrypsin deficiency - AR, impaired ability to protect organs from
elastase -> early onset panacinar emphysema, cirrhosis.
Amaurosis fugax - painless, transient, monocular vision loss caused by a
small embolus to the ophthalmic artery.
Beckwith-Wiedemann syndrome - Wilms tumor, neonatal hypoglycemia,
muscular hemihypertrophy, organomegaly (particularly the tongue).
Budd Chiari - occlusion of hepatic veins, ascites with no JVD.
Caisson disease - Gas emboli in divers
Central retinal artery occlusion - sudden, painless vision loss. Pale retina and
a cherry red macula.
Chagas disease - Infection with Trypanosoma cruzi (Central and South
America). Reduviid bug kissing bug. Swelling around eye, hardened and
red area of bite. Fever, malaise, lymphadenopathy, tachycardia and EKG
changes. Cardiomyopathy, megacolon/megaesophagus.
Charcots triad #1 - Nystagmus, intention tremor, and scanning speech
suggests Multiple Sclerosis.
Charcots triad #2 - Jaundice, RUQ pain, and fever suggests cholangitis.
Charcot-Leyden crystals - crystals insputum made of eosinophil membranes
suggests bronchial asthma
Chediak-Higashi disease - Phagocyte deficiency related to abnormally large
granules in neutrophils. Immunodeficiency, albinism, and neurologic defects.
Chvosteks sign - Facial spasm on tapping indicates hypocalcemia
Codmans triangle on x-ray - Subperiosteal new bone formation suggests
osteosarcoma
Cowdry type A bodies - Intranuclear inclusions suggests herpes virus
infection
Crigler-Najjar syndrome - Mild (type 2) to life threatening (type 1) congenital
unconjugated hyperbillirubinemia.
Curling ulcer - Acute gastric ulcer secondary to severe burns.
Curschmanns spirals - Coiled mucinous fibrils in sputum suggests bronchial
asthma.
Cystic Fibrosis - CFTR gene mutation causing a dysfunctional transmembrane
(ATP-gated) chloride transport. deltaF508 mutation is most common, and

deletes the nucleotides that code for phenylalanine at amino acid position
508. Autosomal recessive. Decreased water content in epithelial secretions
leads to thick, viscous mucus that causes chronic airway obstruction and
impaired respiratory bacterial clearance. GI maldigestion and malabsorption.
Chronic, productive cough. Recurrent sinopulmonary infections (especially
P.aeruginosa & S.aureus). Steatorrhea and failure to thrive. Male infertility
(bilateral absence of vas deferens). Elevated sweat chloride levels, nasal
potential difference.
Diabetic retinopathy - blurry vision, black spots, floaters, and decreased
vision loss. Ophthalmoscopy shows neovascularization.
Dressler syndrome - autoimmune Fibrinous pericarditis developing after
myocardial infection.
Dubin-Johnson syndrome - benign black liver secondary to congenital
conjugated hyperbilirubinemia.
Duchenne muscular dystrophy - X-linked recessive muscle dysfunction
secondary to a deleted dystrophin gene. Difficulty walking and standing up.
Pt uses hands to bring themselves up from seated position. Pseudo
hypertrophy of calf muscles.
Edwards syndrome - Trisomy 18, causes rocker-bottom feet, low set ears,
heart disease, micrognathia, prominent occiput. Clenched hands with
overlapping fingers, Meckels diverticulum, and malrotation.
Eisenmengers complex - Uncorrected left-to-right cardiac shunt causes late
right-to-left shunt with late cyanosis.
Erb-Duchenne palsy - waiters tip hand secondary to superior trunk
brachial plexus injury.
Fanconi syndrome - Kidney dysfunction secondary to proximal tubular
reabsorption defect.
Gardner syndrome - Constellation of colon polyps with osteomas and soft
tissue tumors.
Gaucher disease - Glucocerebrosidase deficiency leading to glucocerebroside
accumulation in multiple organs, notably spleen, liver, marrow, and brain.
Ghon focus - Small lung lesion of early tuberculosis. Hilary lymphadenopathy.
Middle lobe
Giant Cell Arteritis - elderly. Unilateral headache (temporal artery), jaw
claudication, ophthalmic artery occlusion (may lead to blindness). Associated
w/ polymyalgia rheumatica. Focal granulomatous inflammation. INCREASED
ESR and Creactive protein. Treat w/ corticosteroids prior to temporal artery
biopsy to prevent vision loss. IL-6 mediated Tocalizumab'
Gilbert syndrome - Benign congenital unconjugated bilirubinemia related to
stress.
Goodpasture syndrome - Anti-basement membrane antibodies; causes
pulmonary and kidney bleeding.
Guillain-Barre syndrome - acute demyelinating disease with an immunemediated pathogenesis. Antibodies against infection cross-react with the
myelin of the spinal root and peripheral nerves. On LM, segmental
demyelination of peripheral nerves. Demyelination is accompanied by an

endoneural inflammatory infiltrate consisting of lymphocytes and

macrophages. Ascending flaccid paralysis and areflexia. Bells palsy may
occur. Respiratory muscle paralysis may occur. CSF will have increased
protein w/ normal or slightly elevated cell count (albumin-cytologic
dissociation).
Hepatic angiosarcoma - exposure to arsenic, vinyl chloride.
Hemochromatosis - excess iron deposition/absorption and accumulation in
the hepatic parenchyma, cirrhosis, DB (bronze diabetes), skin pigmentation.
CHF, testicular atrophy, risk of HCC. AR, transfusions. Elevation of ferritin
(complex of iron and apoferritin/storage), elevated total serum iron,
decreased total iron binding capacity, increased transferrin saturation
(transferrin is a protein that binds iron and transports it in plasma. Transferrin
in plasma | ferritin and apoferritin in cells). Treat with phlebotomy,
Deferoxamine.
Henoch-Schonlein Purpura (HSP) - generally affects young children and is
preceded by an upper respiratory infection. IgA-mediated hypersensitivity
vasculitis causes abdominal pain, join pain, lower extremity palpable purpura
and hematuria.
Jervell and Lange-Nielsen syndrome - congenital long-QT syndrome
accompanied by sensorineural deafness.
Lesch-Nyhan syndrome - X-linked recessive disorder characterized by the
development of dystonia, choreoathetosis, self-mutilation and hyperuricemia
within the first few years of life. Caused by a defect in hypoxanthineguaninephosphoribosyltransferase (HGPRT). This results in the failure of
purine salvage pathway. Leads to increased degradation of hypoxanthine and
guanine to uric acid.
Legg-Calve-Perthes disease - disease of young children that results in
isolated idiopathic osteonecrosis of the hip.
Lichen planus - characterized by the 5 Ps: polygonal, pruritic, planar,
pruplish plaques on the wrists, hands, trunk, and legs. Fine white lines
termed Wickham striae may be present on the plaque surface.
Lofgren syndrome - a triad of erythema nodosum on the shins, hilar
lymphadenopathy, and arthritis in a patient with Sarcoidosis.
Mallory bodies - eosinophilic granulations in hepatocytes. Usually due to
alcohol. Cirrhosis. Damaged intermediate filaments within the hepatocytes.
Mallory-Weiss syndrome - Esophagogastric lacerations with profuse bleeding
secondary to heavy vomitting and retching.
McArdle disease - Muscle phosphorylase deficiency causing glycogen storage
disease with prominent muscular symptoms. Exercise intolerance. Muscle
cramps, myoglobin in urine.
McCune-Albright syndrome - triad of fibrous dysplasia of the bone (osteolytic
lesions of hip and pelvis), endocrine abnormalities (precocious puberty), and
cafe-au-lait spots (sharp borders, unlike NF1). (mosaic somatic mutation in
the GNAS gene encoding the stimulatory alpha subunit of protein G>constitutive activation of adenylate cyclase leads to overproduction of
several hormones.)

Mixed Connective Tissue Disease - autoimmune mediated tissue damage

with mixed features of SLE, systemic sclerosis, and polymyositis (proximal
muscle weakness). Characterized by serum antibodies against U1
ribonucleoprotein.
Myotonic Dystrophy - autosomal-dominant disorder caused by increased
number of trinucleotide repeats on myotonia-protein kinase gene which
leads to sustained muscle contraction (myotonia), along with weakness,
atrophy, cataracts, frontal balding, and gonadal atrophy. Biopsy shows
atrophy of mostly type 1 muscle fibers.
Negri bodies - neuron inclusions in rabies. (electron microscopy)
Niemann-Pick disease - Potentially fatal sphingomyelinase deficiency causing
sphingomyelin deposition in brain and other organs. Cherry red spot on
macula, neuro problems.
Oslers nodes - pea-sized nodules on palms and soles suggesting
endocarditis.
Pancoast tumor - Apical lung cancer causing Horner syndrome. Ipsilateral
shoulder pain, upper limb paresthesias, and areflexic arm weakness due to
involvement of the brachial plexus. Horners syndrome (ipsilateral partial
ptosis, mitosis, anhydrosis) can also occur due to involvement of the cervical
sympathetic ganglia. *Brain stem Horners syndrome would cause
contralateral symptoms with cranial nerve abnormalities, diplopia, vertigo,
contralateral sensory loss or hemiparesis), ataxia. Spinal cord Horner
syndrome can result in ipsilateral spastic hemiparesis and sensory loss below
the level of spinal involvement.
Patau syndrome - trisomy 13. miotic nondisjunction. Midline defects (eg,
holoprocencephaly/microcephaly, microphthalmia, cleft lip/palate,
omphalocele) as well as polydactyly and cutis aplasia (focal skin defect of
the scalp)
Perinaud syndrome - Dorsal midbrain syndrome caused by compression of
pineal gland; paralysis of upward gaze, may compress cerebral aqueduct
(non communicating hydrocephalus)
Parkinson disease - Motor disorder (resting tremor, rigidity) secondary to
nigrostriatal dopamine depletion. Presence of Lewy bodies (eosinophilic
cytoplasmic inclusions composed of ubiquitin).
Peutz-Jeghers syndrome - Benign autosomal-dominant colon polyposis
syndrome.
Peyronie disease - Penis deviates on erection secondary to fibrosis.
Pick bodies - round, silver staining cytoplasmic structures in neurons in Pick
disease (fronto temporal dementia), contain tau protein.
Pick cells - Swollen (balloon) cells found in Pick disease, may contain Pick
bodies.
Pick disease - Frontal and temporal lobe atrophy; progressive dementia;
similar to Alzheimer disease but shorter course.
Plummer-Vinson syndrome - esophageal webs with iron deficiency anemia.
Pompe disease - Lysosomal glucosidase deficiency causing cardiomegaly.
Pott disease - Tuberculosis of the vertebrae.

Potter syndrome - bilateral renal agenesis due to malformation of the ureteric

bud. Oligohydramnios. Limb deformities, facial abnormalities, and pulmonary
hypoplasia.
Reynaud syndrome - Recurrent vasospasm in extremities causing hand or
foot color changes. Reaction to cold temperatures.
Reed-Sternberg cells - Large binucleate tumor in Hodgkin disease.
Reid index - Increased reid index means thick mucous glands in bronchus
and suggests chronic bronchitis/OCPD.
Reinke crystals - crystals seen in Leydig cell tumors.
Reiter syndrome - nongonococcal urethritis causes immune response,
leading to conjunctivitis and arthritis.
Rett syndrome - occurs mainly in girls. Begins with normal development
followed by a loss of motor skills and language skills and the development of
stereotypical hand movements (wringing of hands). Deceleration of head
growth also occurs. Most cases occur due to de novo mutations in the Xlinked MECP2 gene.
Roth spots - Retinal hemorrhages; suggests endocarditis.
Rotor syndrome - Benign congenital conjugated hyperbillirubinemia
Russel bodies - round plasma cell inclusions that suggest multiple myeloma.
Schiller-Duval bodies - Glomerulus-like microscopic structures in yolk sac
tumors.
Scleroderma - diffuse and local. Esophagus is commonly affected, resulting in
disorder motility (dysphagia for solids and liquids). ANA and anti-DNA
topoisomerase I (Scl-70) antibody.
CREST syndrome. Calcinoshs/antiCentromere antibody. Raynaud
phenomenon. Esophageal dysmotility. Sclerodactyly. Talangiectasias of skin.
Sheehan syndrome - Postpartum pituitary necrosis (caused by a large
hemorrhage during delivery) leading to massive hormonal deficits.
Sjogren syndrome - Autoimmune attack on salivary glands with dry eyes, dry
mouth and arthritis. HLA-DR3. ANA positive. anti-Ro (SS-A) anti-La (SS-b)
[anti-ribonucleoprotein antibodies]. Increased risk for B-cell lymphoma
(unilateral enlargement of parotid gland late in the disease course).
Thrombotic thrombocytopenia purpura - hemolytic anemia, increased LDH,
decreased haptoglobin, schistocytes, thrombocytopenia (increased bleeding
time, normal PT/PTT). Sometimes with renal failure, neurological
manifestations, fever. Decreased ADAMTS13 (cleaves and degrades vWF)
activity leading to large vWF multimers.
Trousseaus sign of hypocalcemia - Carpal spasm
Trousseaus sign of malignancy - Migratory thrombophlebitis suggesting
visceral (pancreatic) carcinoma.
Virchows node - Left supraclavicular node enlargement suggesting
metastatic gastric carcinoma.
Virchows triad - Blood stasis, hyper coagulability, and endothelial damage
causes venous clots with a risk of pulmonary embolism.
von Recklinghausen neurologic disease - Neurofibromatosis
von Recklinghausen bone disease - Osteitis fibrosa cystica

Wallenberg syndrome - Lateral medullary syndrome caused by PICA

occlusion; causes contralateral pain, temperature deficits in body, ipsilateral
temperature deficits in face, dysphagia, vestibular dysfunction, ipsilateral
Horner syndrome.
Waterhouse-Friderichsen syndrome - Adrenal hemorrhage complicating
meningococcemia
Whipple disease - Tropheryma whippelii causes malabsorption syndrome
Wilm's tumor - most common renal malignancy of early childhood. Unilateral
palpable flank mass and/or hematuria. DOES NOT CROSS the midline. Loss of
function of tumor suppressor gene WT1 and WT2 on chromosome 11. WAGR
complex: wilms tumor, aniridia (absent iris), genitourinary malformation, and
retardation.
Wilson disease - Altered copper metabolism causes liver and brain damage,
AR, defective ATP7B gene(impaired excretion of copper into bile, impaired
conversion of copper to ceruloplasmin->low ceruloplasmin); Kayser-Fleischer
rings
Zenkers diverticulum - lower esophageal diverticulum due to
cricopharyngeal motor dysfunction.
Zollinger-Ellison syndrome - Gastrin secreting tumor causing peptic ulcers.