Classic Presentations Flashcards
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome
- HGPRT deficiency, XR
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartegener syndrome
- dynein arm defect affecting cilia
Blue sclera
Osteogenesis imperfecta
- Type I collagen defect
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome
- Type V collagen defect
- Type III collagen defect in vascular subtype
Arachnodactyly, lens dislocation (upwward), aortic dissection, hyperflexible joints
Marfan Syndrome
- fibrillin defect
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome
- mosaic G-protein signaling mutation
Calf pseudohypertrophy
Muscular Dystrophy
- most commonly: Duchenne
- XR frameshift mutation of dystrophin gene
Child uses arms to stand up from squat
Duchenne muscular dystrophy
- Gower sign
Slow, progressive muscle weakness in boys
Becker Muscular Dystrophy
- X-linked missense mutation in dystrophin
- less severe than Duchenne
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome
- trisomy 13
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome
- trisomy 18
Single palmar crease
Down syndrome
Dilated cardiomyopathy, edema, alcoholism, or malnutrition
Wet beriberi
- thiamine (vit B1) deficiency
Dermatitis, dementia, diarrhea
Pellagra
- niacin (vit B3) deficiency
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
- vitamin C deficiency
- can’t hydroxylate proline/lysine for collagen synthesis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobulinuria
McArdle Disease
- skeletal muscle glycogen phosphorylase deficiency
Infant with hypoglycemia, hepatomegaly
Cori Disease - debranching enzyme defiency OR Von Gierke Disease (more severe) - glucose 6-phosphatase deficiency
Myopathy (infantile hypertrophic cardiomyopathy), exercsie intolerance
Pompe disease
- lysosomal alpha-1,4-glucosidase deficiency
“cherry-red spots” on macula
Tay-Sachs - ganglioside accumulation OR Niemann-Pick - sphingomyelin accumulation OR Central retinal artery occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease
- Glucocerebroside deficiency
Achilles tendon xanthoma
Familial hypercholesterolemia
- decreased LDL receptor signaling
Anaphylaxis following blood transfusion
IgA deficiency
Male child, recurrent infections, no mature B cells
Bruton Disease
- X-linked agammaglobulinemia
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome
- Job syndrome
- neutrophil chemotaxis abnormality
“Strawberry tongue”
Scarlet fever
OR
Kawasaki disease
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
- meningococcemia
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Large rash with bull’s eye appearance
Erythema chronicum migrans from Ixodes tick bite
- Lyme disease: Borrelia
Indurated, ulcerated genital lesion - nonpainful
Chancre
- primary syphilis - treponema pallidum
Indurated, ulcerated genital lesion - painful, with exudate
Chancroid
- haemophilus decreyi
Pupil accommodates but does not react
Neurosyphilis
- Argyll-Robertson pupil
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata
- secondary syphilis
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction
- rapid lysis of spirochetes results in endotoxin-like release
Dog or cat bite resulting in infection
Pasteurella multocida
- cellulitis at inoculation site
Rash on palm and soles
Coxsackie A OR Secondary syphilis OR Rocky Mountain spotted fever
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots
- measles/rubeola virus
Back pain, fever, night sweats
Pott disease
- vertebral TB
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease
- slapped cheeks appearances
- parvovirus B19
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. diff
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Continuous ‘machine-like’ heart murmur
PDA
- close with indomethacin
- keep open with PGE analogs
Chest pain on exertion
Angina
- stable: with moderate exertion
- unstable: with minimal exertion or at rest
Chest pain with ST depression on ECG - negative troponins
Angina
Chest pain with ST depression on ECG - positive troponins
NSTEMI
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
- autoimmune-mediated post-MI fibrinous pericarditis
- 2wks to several months after acute episode
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
Splinter hemorrhages in fingernails
Bacterial endocarditis
Retinal hemorrhages with pale centers
Roth spots
- bacterial endocarditis
Distant heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki disease
- treat with IVIG and aspirin
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura
- IgA vasculitis affecting skin and kidneys
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia
- Osler-Weber-Rendu syndrome
Skin hyperpigmentation, hypotensin, fatigue
Primary adrenocortical insufficiency
- Addison disease
- increase ACTH and increase alph-MSH
Cold intolerance
Hypothyroidism
Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue
Myxedema
- caused by hypothyroidism
- Graves disease (pretibial)
Facial muscle spasm upon tapping
Chvostek sign
- hypocalcemia
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome
- postpartum hemorrhage leading to pituitary infarction
Deep, labored breathing/hyperventiliation
Diabetic ketoacidosis
- Kussmaul respirations
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
- right-sided cardiac valvular lesions
- increase 5-HIAA
Pancreatic, pituitary, parathyroid tumors
MEN 1
- AD
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B
- AD
- RET mutation
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
- AD RET mutation
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign
- distal malignant obstruction of biliary tree
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
- alcoholic and bulimic patients
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome
- may progress to esophageal squamous cell carcinoma
Enlarged, hard left supraclavicular node
Virchow node
- abdominal metastasis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease
- Tropheryma whipplei
Severe RLQ pain with palpation of LLQ
Rovsing sign
- acute appendicitis
Severe RLQ pain with deep tenderness
McBurney sign
- acute appendicitis
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome
- inherited
- benign polyposis can cause bowel obstruction
- increase cancer risk, mainly GI
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome
- subtype of FAP
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome
- posthepatic venous thrombosis
Severe jaundice in neonate
Crigler-Najjar syndrome
- congenital unconjugated hyperbilirubinemia
Golden brown rings around peripheral cornea
Wilson disease
- Kayser-Fleischer rings due to copper accumulation
Fat, female, forty, fertile, familial
Cholelithiasis (gallstones)
Short stature, cafe-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, a
plastic anemia
Fanconi anemia
- genetic loss of DNA crosslink repair
- often progresses to AML
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobulinuria
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
- autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia
- defect in platelet aggregation due to lack of GpIIb/IIIa
Fever, night sweats, weight loss
B symptoms of lymphomas
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides - cutaneous T cell lymphoma OR Sezary syndrome - mycosis fungoides + malignant T cells in blood
WBCs that look ‘smudged’
CLL
Athlete with polycythemia
secondary to erythropoietin injection
Neonate with arm paralysis following difficult birth, arm in ‘waiter’s tip’ position
Erb-Duchenne palsy
- sueprior trunk (C5-C6) brachial plexus injury
Anterior drawer sign positive
Anterior cruciate ligament injury
Bone pain, bone enlargement, arthritis
Paget disease of bone
- increase osteoblastic and osteoclastic activity
Swollen, hard, painful finger joints in the elderly individual, pain worse with activity
Osteoarthritis
- osteophytes on PIP [bouchard nodes]
- osteophytes on DIP [heberden nodes]
Sudden swollen/painful big toe joint, tophi
Gout/podagra
- hyperuricemia
Dry eyes, dry mouth, arthritis
Sjogren syndrome
- autoimmune destruction of exocrine glands
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis associated with HLA-B27
Butterfly facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud phenomenon
- vasospasm in extremities
Anticentromere antibodies
Scleroderma (CREST)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma
- associated with HHV-8
Anti-desmoglein (anti-desmosome) antibodies
Pemphigus vulgarus
- blistering
Pruritic, purple, polygonal planar papules and plaques (6p’s)
lichen planus
Increase AFP in amniotic fluid/maternal serum
Dating error, anencephaly, spina bifida
- open neural tube defects
Toe extension/fanning upon plantar scrape
Babinski sing
- UMN lesion
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome
- bilateral amygdala lesion
lucid interval after traumatic brain injury
Epidural hematoma
- middle meningeal artery rupture
“worst headache of my life”
Subarachnoid hemorrhage
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease
- loss of dopaminergic neurons in substantia nigra pars compacta
Chorea, dementia, caudate degeneration
Huntington disases
- AD
- CAG repeat expansion
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
Rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre syndrome
- acute inflammatory demyelinating polyradiculopathy subtype
Cafe-au-lait spots, Lisch nodules (iris hamartomas), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis I
Vascular birthmark (port-wine stain) of the face
Nevus flammeus
- benign, but associated with Sturge-Weber syndrome
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease
- dominant tumor suppressor gene mutation
Bilateral acoustic schwannomas
Neurofibromatosis II
Hyperreflexia, hypertonia, Babinski sign pressent
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Unilateral facial drooping, involving forehead
LMN facial nerve palsy
- CN VII
UMN lesions spare the forehead*
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Ptosis, miosis, anhidrosis
Horner syndrome
- sympathetic chain lesion
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia
- damage to MLF
- may be unilateral or bilateral
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophsphatemic rickets
Fanconi syndrome
- multiple combined dysfunction of the proximal convoluted tubule
Bluish line on gingiva
Burton line
- lead poisoning
Periorbital and/or peripheral edema, proteinuria (>3.5g/d), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
- mutation in collagen IV
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome
- 45, XO
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast
- sign of underlying neoplasm
Fibrous plaques in soft tissue of penus with abnormal curvature
Peyronie disease
- connective tissue disorder
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis
- hyperplasia of mucous cells
- ‘blue boater’
Pink complexion, dyspnea, hyperventilation
Emphysema
- ‘pink puffer’
- centriacinar [smoking]
- panacinar [alpha1-trypsin deficiency]
Bilateral hilar adenopathy, uveitis
Sarcoidosis
- noncaseating granulomas
