Classic Presentations Flashcards by Alisha Lindberg

Child uses arms to stand up from squat

Gowers Sign

Duchenne Muscular Dystrophy

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Bone Pain
Bone enlargement
Arthritis

Paget disease of bone = increased osteoblastic AND osteoclastic activity

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Abdominal Pain
Diarrhea
Leukocytosis
Recent antibiotic use

C. Diff infection
Gram + Rod
Spore forming
Obligate Anerobe
Pseudomembranous Colitis
Tx = Vancomycin or Metronidazole
Toxin A - binds brush border of gut
Toxin B- Cytoskeleton disruption via actin depolymerization

Diagnosis = PCR or toxin

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Cafe-au-lait spots (unilateral)
Polyostotic fibrous dysplasia
Precocious puberty
Multiple Endocrine Neoplasias

McCune-Albright Syndrome = mosaic G-protein signaling mutation

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Bilateral hilar adenopathy
Uveitis
Restrictive Lung Disease

Sarcoidosis

Non-caseating granulomas

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Back pain
Fever
Night Sweats

Pott Disease

Vertebral TB

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Anaphylaxis following blood transfusion

IgA deficiency

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Chest pain
Pericardial effusion/friction rub
Persistent Fever
Post- MI

Dressler Syndrome = Autoimmune-mediated post MI fibrinous pericarditis

2-12 weeks after acute episode

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Chorea
Dementia
Caudate Degeneration

Huntington Disease = autosomal dominant CAG repeat expansion

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Anterior “drawer sign”

Anterior crucitate ligament injury

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Chest pain on exertion

Angina
Stable = with moderate exertion
Unstable = with minimal exertion or at rest

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Black Eschar on face of patient with diabetic ketoacidosis

Mucor or Rhizopus fungal infection
Opportunistic 
-proliferate in blood vessel walls
-Penetrate cribriform plate
-Enter brain

**frontal lobe abscess, cavernous sinus thrombosis

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Arachnodactylyl
Lens dislocation
Aortic Dissection
Hyperflexible Joints

Marfan Syndrome = fibrillin defect

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Abdominal Pain
Ascites
Hepatomegaly

Budd-Chiari Syndrome
Thromobosis or compression of hepatic veins
Centrilobular congestion and necrosis
ABSENCE OF JVD
NUTMEG LIVER

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Butterfly facial rash

Raynaud phenomenon in young female

SLE

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Chorioretinitis
Hydrocephalus
Intracranial Calcifications

Congenital Toxoplasmosis

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Cafe-au-lait spots
Lisch nodules (iris hamartoma)
Cutaneous neurofibromas
Pheochromocytomas
Optic gliomas

NFT Type 1

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Bluish line on gingia

Burton line = Lead poisoning

Lead inhibits ferrochelatase and ALA dehydratase
Decreased heme synthesis and increased protoporphyrin

**RBC’s basophilic stippling

TX: DIMERCAPROL and EDTA and SUCCIMER

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Calf Pseudohypertrophy

Muscular dystrophy

Most commonly Duchenne = x-linked recessive frameshift mutation of dystrophin gene

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“Cherry Red” Spots on macula

Tay Sachs = ganglioside accumulation

hexosaminidiase A
NO hepatosplenomegaly

Niemann-Pick Disease = sphingomyelin accumulation

Sphingomyelinase
Hepatosplenomegaly, foam cells

Central Retinal Artery Occlusion

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Athlete with polycythemia

Secondary to erythropoietin injection

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Achilles tendon xanthoma

MI before age 20

Familial hypercholesteroliemia
Autosomal Dominant
Absent or defective LDL receptor
Accelerated Atherosclerosis

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Chest pain with ST depressions on EKG

Unstabple angina (-troponins) OR
NSTEMI (+troponins)

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Adrenal hemorrhage
Hypotension
DIC

Waterhouse-Friderichsen Syndrome

*caused by N. Meningititis

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Bounding pulses Diastolic heart murmur Head Bobbing

Aortic Regurgitation

Bilateral acoustic schwannomas

NFT Type 2

Blue Sclera

Osteogenesis Imperfecta = Type 1 collagen defect

Cervical Lympyadenopathy Desquamating rash Corornary Aneurysms Red conjunctivac and tongue

Kawasaki disease - treat with IVIG and aspirin

Child with fever later develops red rash on face that spreads to body

"Slapped Cheeks" Erythema infectiosum 5th Disease Parvovirus B-19

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

McArdle Disease (skeletal muscle glycogen phsophorylase deficiency)

Cold intolerance

Hypothyroidism

Conjugate horizontal gaze palsy, horizontal diplopia

Internuclear opthalmoplegia (damage to MLF, may unitaleral or bilateral)

Continuous "machine like" heart murmur

PDA Close with indomethacin Keep open with PGE

Cutaneous/dermal edema due to connective tissue deposition

Myxedema (caused by hypothyroidism) Pretibial in graves disease

Cutaneous flushing, diarrhea, bronchospasm

Carcinoid syndrome (right sided cardiac valvular lesions, increased 5-HIAA)

Dark purple skin/mouth nodules in a patient with AIDs

Kaposi Sarcoma, associated with HHV-8

Deep, labored breathing/ hyperventiliation

Kussmaul respirations (diabetic ketoacidosis)

Dermatitis, dementia, diarrhea

Pellagra (Niacin B3 deficiency)

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine B1 deficiency)

Dog or cat bite resulting in infection

Pasturella multocida (cellulitis at occulation site)

Dry eyes, dry mouth, arthritis

Sjogren Syndrome

Dysphagia (esophageal webs) Glossitis Iron Deficiency Anemia

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Elastic Skin Hypermobility of joints Increased bleeding tendency

Ehlers-Danlos syndrome Type 5 collagen defect, Type 3 collagen defect seen in vascular type

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

Episodic vertigo Tinnitus Hearing loss

Meniere Disease

Erythroderma Lymphadenopathy Hepatosplenomegaly Atypical T cells

Mycosis fungoides (cutaneous T-cell lymphoma)

Facial muscle spasm on tapping

Chvostek sign = hypocalcemia

Fat Female Forty Fertile

Cholelithiasis (gallstones)

Fever Chills Headache Myalgia following antibiotic treatment for syphillis

jarish-herxheimer reaction = rapid lysis of spirochetes results in endotoxin release

``` Fever Cough Conjunctivitis Coryza Diffuse rash ```

Measles

Fever Nightsweats Weight loss

B symptoms of lymphoma

Fibrous plaques in soft tissue of penis with abnormal curvatures

Peyronie Disease (connective tissue disorder)

Golden brown rings around peripheral cornea

Kayser-Fleischer rings = cooper accumulation from WIlson disease

Gout Intellectual disability Self-mutilating behavior in a boy

Lesch-Nyhan syndrome = HGPRT deficiency X-linked recessive

Hamartomatous Gi polyps | Hyperpigmentation of mouth/feet/hands/genitalia

Peutz-Jeghers Syndrome = inherited, benign polyposis can cause bowel obstruction Increased cancer risk (mainly GI)

``` Hepatosplenomegaly Pancytopenia Osteoporosis Aseptic necrosis of femur Bone Crises ```

Gaucher Disease = glucocerebrosidase deficiency

Hereditary nephritis Sensorineural hearing loss Cataracts

Alport Syndrome Mutation in collage IV

Hyperphagia Hypersexuality Hyperorality Hyperdocility

Kluver-Bucy syndrome Bilateral amygdala lesion

Hyperreflexia Hypertonia Babinskin sign present

UMN damage

Hyporeflexia Hypotonia Atrophy Fasciculations

LMN damage

Hypoxemia Polycythemia Hypercapnia

"Blue Bloater" Chronic bronchitis = hyperplasia of mucous cells

Indurated, ulcerated genital lesion

Nonpain ful = chancre, primary syphillus Painful with exudate = H. Ducreyi

Infant with cherry red spot on macula Hepatosplenomegaly Neurodegeration

Neimann-Pick disease (genetic sphingomyelinase deficiency)

Infant with clef lip/palate microcephaly or holoprosencephaly POlydactylly Cutis Aplasia

Patau Sydrome (trisomy 13)

Infant with hypoglycemia, heptomegaly

Cori disease or Von GIerke disease

Infant with mcirocephaly, rocker-bottom feet, clenched hands and structural heart defect

Edwards syndrome (Trisomoy 18)

Jaundice | Palpable distended non-tender gallbladder

Courvoisier sign = distal obstruction of biliary tree)

Large rash with bull's eye appearance

Erythema migrans from Ixodes tick bit (lyme disease, borrelia)

Lucid interval after traumatic brain injury

Epidural hematoma (middle meningeal artery rupture)

Male child Recurrent infection No mature B cells

Bruton Disease (X-linked agammaglobulinemia)

Mucosal bleeding and prolonged bleeding time

Glanzmann throbasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa

Muffled heart sounds Distended neck veins Hypotension

Beck triad of cardiac tamponade

Multiple colon polyps Osteomas/soft tissue tumors Impacted/Supernumerary teeth

Gardner Syndrome (subtype of FAP)

Myopathy (infantile hypertrophic cardiomyopathy) | Exercise intolerance

Pompe disease (lysosomal alpha 1,4 glucosidase deficiency)

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy (superior trunk C5-C6 brachial plexus injury) = waiter's tip

No lactation postpartum Absent menstruation Cold intolerance

Sheehan Syndrome

Nystagmus Intention tremor Scanning speech Bilateral internuclear opthalmoplegia

Multiple Sclerosis

Painful blue fingers/toes | Hemolytic Anemia

Cold agglutinin disease

Painful fingers/toes changing color from blue to white to red with cold or stress

Raynaud phenomenon (vasospasm in extremities)

Painful, raised red lesions on pads of fingers/toes

Osler nodes Infective endocarditis Immune complex deposition

Painless erythematous lesions on palms and soles

Janeway lesions Infective endocarditis Septic Emboli/microabscesses

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

Palpable purpura on buttocks/legs Joint pain Abdominal pain (child) hematuria

HSP = IgA vasculitis affecting skin and kidneys

Pancreatic, Pituitary, parathyroid tumors

MEN 1 (autosomal dominant)

Periorbital and/or peripheral edema Proteinuria Hypoabuminemia Hypercholesterolemia

Nephrotic Syndrome

Pink complexion Dyspnea Hyperventilation

Pink puffer = emphysema

``` Polyuria Rental tubular acidosis type II Growth Failure Electrolyte imbalances Hypophosphatemic rickets ```

Fanconi Syndrome = multiple combined dysfunction of proximal convoluted tubule

Pruritic, purple, polygonal planar papules and plaques

Lichen Planus

Ptosis Miosis Anhidrosis

Horner Syndrome

Pupil accomodates but doesn't react

Argyll Robertson pupil

Rapidly progressive limb weakness that ascends following GI/URI

Guillain-Barre Syndrome = acute inflammatory demyelinating plyradiculopathy subtype

Rash on palms and soles

Coxsackie A Secondary Syphillis RMSF

Recurrent cold abscesses Unusual eczema High serum IgE

Hyper IgE syndrome (job syndrome, neutrophil chemotaxis abnormality)

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumoniae

Red "currant jelly" stools

Acute mesenteric ischemia in adults Intussusception in kids

Red, itchy, swollen, nipple

Paget Diseae of breast (sign of underlying neoplasm)

Red urine in the morning | Fragile RBCs

Paroxysmal nocturnal hemoglobinuria

Renal Cell carcinoma (bilateral) Hemangioblastomas Angiomatosis Pheochromocytoma

Von Vippel Lindau disease (dominant tummor suppressor gene mutation)

``` Resting tremor Rigidity Akinesia Postural instability Shuffling gate ```

Parkinson disease = loss of dominergic neruons in substantia nigra pars compacta

Retinal hemorrhages with pale centers

Roth spots = bacterial endocarditis

Severe jaundice in neonate

Crigler-Najjar syndrome = congential unconjugated hyperbilirubinemia

Severe RLQ pain with palpation of LLQ

Rovsing Sign = acute appendicitis

Severe RLQ pain with rebound tenderness

McBurney Sign= acute appendicits

``` Short stature Cafe au lait spots Thumb/radial defects Increased incidence of tumors/leukemia Aplastic Anemia ```

Fanconia Anemia Genetic loss of DNA crosslink repair Often progresses to AML

Single palmar crease

Down syndrome

Situs inversus Chronic sinusitis Bronchiectasis INfertility

Kartagener Syndrome = dynein arm defect affecting cilia

Skin hyperpigmentation Hypotension Fatigue

Primary adrenocortical insufficiencys (Addison's Disease) causes increased ACTH and MSH production

Slow, progressive muscle weakness in boys

Becker muscular dystrophy (x-linked missense mutaiton in dystrophin) Less severe than Duchenne

Small, irregular red spots on buccal/lingual mucosa with blue white centers

Koplik Spots (measles, rubeola virus)

Smooth, moist, painless, wart like white lesions on genitals

Condylomata late (secondary syphilis)

Splinter hemorrhages in fingernails

Bacterial endocarditis

Strawberry Tongue

Kawasaki Disease

``` Streak ovaries Congential herat disease Horsehoe skideny Cystic hygroma at birth Short stature Webbed neck Lymphedema ```

Turner Syndrome (XO)

Sudden swollen/painful big toe joint | Tophi

Gout/podagra (hyperuricemia)

Swollen gums Mucosal bleeding Poor wound healing Petechiae

Scurvy (Vit C deficiencyc, can't hydroxylate proline/lysine for collagen synthesis)

Swollen, hard, painful finger joins

Osteoarthritis Bouchards nodes = PIP Heberden nodes = DIP

Systolic ejection murmur (cresendo-decrescendo)

Aortic Stenosis

``` Telangiectasias Recurrent epistaxis Skin discoloration Arteriovenous malformations GI bleeding Hematuria ```

Osler-Weber-Rendu Syndrome

Thyroid Parathyroid Pheochromocytoma

MEN 2 A (Autosomal dominant RET mutation)

Thyroid tumors Pheochromocytoma Ganglioneuromatosis

MEN 2B (autosomal dominant RET mutation)

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

Unilateral facial dropping involving forehead

LMN facial nerve palsy

Urethritis Conjunctivits Arthritis in male

Reactive arthritis associated with HLA-B27

Vascular brithmark (port wine stain) on the face

Nevus Flammeus (benign, but associated with STurge-Weber syndrome)

Vomiting blood following gastroespohageal lacerations

Mallory-Weiss Syndrome (alcoholic and bulimic patients)

``` Weight loss Diarrhea Arthritis Fever Adenopathy ```

Whipple Disease (T. whipplei)

Worst headache of my life

Subarachnoid Hemorrhage