Classic Presentations Flashcards
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-Nyhan Syndrome (HGPRT deficiency, X-linked recessive)
Situs inversus, chronic ear infections, sinusitus, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Elastic skin, hypermobility of joints, ^ bleeding tendency
Ehlers Danlos syndrome (type V collagen defect type III collagen defect seen in vascular subtype of ED)
Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Arachnodactyly, pectus deformity, lens dislocation (downward)
Homocystinuria (autosomal recessive)
Cafe- au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (Gs-protein activating mutation)
Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility
Cystic Fibrosis (CFTR gene defect, chromosome 7, Phe 508 deletion)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive framseshift mutation of dystrophin gene)
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers signs)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (x-linked non frameshift deletions 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.
Edward Syndrome (trisomy 18)
Single palmar crease
Down Syndrome
Confusion, ophthalmoplegia/nystagmus, ataxia
Wernicke encephalopathy
Dilated cardiomyopathy/high output heart failure, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency)
Burning feet syndrome
Vitamin B5 deficiency
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3] deficiency)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis); tea and toast diet
Bowlegs in children, bone pain and muscle weakness
Rickets (children), osteomalacia (adults), vitamin D deficiency
Hemorrhagic disease of newborns with increase PT, increase PTT
Vitamin K deficiency
Bluish black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air
Alkaptonuria (homogentisate oxidase deficiency; ochronosis)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphatase deficiency, more severe)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1, 4-glucosidase deficiency)
Cherry red spots on macula
Tay-sachs (ganglioside accumulation) or Niemann pick (sphingomyelin accumulation), central retinal artery occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase [B-glucosidase] eficiency)
Achilles tendon xanthoma
Familial hypercholesterolemia ( v LDL receptor signaling)
Recurrent Neisseria infection
Terminal complement deficiencies (C5-C9)
Anaphylaxis following blood transfusion
IgA deficiency
Male child, recurrent infections, no mature B cells
Bruton disease (X-liked agammaglobulinemia)
Recurrent cold (noninflamed) abscess, eczema, high serum IgE, ^ eosinophils
Hyper IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Late separation )>30 days)of umbilical cord, no pus, recurrent skin and mucosal bacterial infections
Leukocyte adhesion deficiency (type 1, defective LFA-1 integrin)
Recurrent infections and granulomas with catalase + organisms
Chronic granulomatous disease (defect of NAPDH oxidase)
Fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampons
Staphylococcal toxic shock syndrome
Strawberry tongue
Scarlet fever
Kawasaki disease
Colon cancer diagnosed a few years after endocarditis
Streptococcus bovis
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Flaccid paralysis on newborn after ingestion of honey
Clostrodium botulinum infection (floppy baby syndrome)
Tonsillar pseudomembrane with bulls neck appearance
Corynebacterium diphtheria infection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Adrenal insufficiency, fever, DIC
Waterhouse - Friederichsen syndrome (meningococcemia)
Red “currant jelly” sputum in patients with alcohol overuse or diabetes
Klebsiella pneumoniae pneumonia
:arge rash with bull’s eye appearance
Erythema migrans from Ixodes tick bite (lyme disease: Borrelia)
Ulcerated genital lesion
Nonpainful, indurated: chancre (1º syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Pupil accommodates but doesn’t react to light
Neurosyphilis (Argyll Robertson pupil)
Smooth, moist, painless, wart-like white lessions on genitals
Condylomata lata (2º syphilis)
Fver, chills, headache, myalgia following antibiotic treatment for syphilis.
Jarisch-Herxheimer reaction (due to host response to sudden release of bacterial antigens)
Dog or cat bite resulting in ifection (cellulitis, osteomyelitis)
Pasteurella multocida (cellulitis at inoculation site)
Atypical “walking pneumonia” with x-ray looking worse that the patient
Mycoplasma pneumoniae infection
Rash on palms and soles
Coxsackie A, 2º syphilis, Rocky Mountain spotted fever
Black Eschar on face of patient with diabetic ketoacidosis and/or neutropenia
Mucor or Rhizopus fungal infection
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Pruritus, serpiginous rash after walking barefoot
Hookworm (ancylostoma spp, Necator americans)
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Systolic ejection murmur (crescendo-decrescendo), narrow pulse pressure, pulsus parvus et tardus
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
Angina (- troponins) or NSTEMI (+ troponins)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post MI fibrinous pericarditis, 2 weeks to several months after acute episode.
Distant heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painles erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ microabscesses)
Splinter hemorrhages in fingernails
Bacterial endocarditis
Retinal hemorrhage with pale centers
Roth spots (bacterial endocarditis)
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome)
Polyuria (water diuresis), polydipsia
Primary polydispsia, diabetes insipidus (central nephrogenic)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)
Heat intolerance, weight loss, palpitations
Hyperthyroidism
Cold intolerance, weight gain, brittle hair
Hyporthyroidism
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)
Carpal spasm upon inflation of BP cuff
Trousseau sign (hypocalcemia)
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances
Chronic 1º adrenal insufficiency (Addison disease) -> ^ACTH, ^ alpha MSH
Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue
Acute adrenal insufficiency (adrenal crisis)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant MEN 1 mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN 2B (autosomal dominant RET mutation)
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
Cutaneous flushing, diarrhea, bronchospasm, heart murmur
Carcinoid Syndrome (^ 5-HIAA)
Jaundice, palpable distended non tender-gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
Vomiting blood following gastroesophageal lacerations
Mallory Weiss syndrome (alcohol use disorder, bulimina nervosa)
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)
Hematemesis, melena
Upper GI bleeding (eg peptic ulcer disease)
Hematochezia
Lower GI bleeding (eg colonic diverticulosis)
Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea
Whipple disease (tropheryma whipplei)
Severe RLQ pain with pslpstion of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign (acute appendicitis)
Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; ^ cancer risk, mainly GI
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner Syndrome (subtype of FAP)
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)
Female, fat, fertile, forty
Cholelithiasis (gallstones)
Painless jaundice with enlarged gallbladder
Cancer of the pancreatic head obstructing bile duct
Bluish line on gingiva
Burton line (lead poisoning)
Short stature, café au lait spots, thumb/radial defects, ^ incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Red/pink urine, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Petechiae, mucosal bleeding, prolonged bleeding time
Platelet disorders (eg Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)
Fever, night sweats, weight loss
B symptoms of malignancy
Skin patches/plaques, Pautrier microabscesses, atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Neonate with arm paralysis following difficult birth, arm in waiter’s tip position
Erb - Duchenne Palsy (superior trunk [C5-C6] brachial plexus injury)
Anterior drawer sign +
Anterior cruciate ligament injury
Bone pain, bone enlargement, arthritis
Osteitis deformans (Paget disease of bone, ^ osteoblastic and osteoclastic activity)
Swollen, hard, painful finger joints in an elderly individual, pain worse with activity
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Sudden swollen /painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Dry eyes, dry mouth, arthritis
Sjögren syndrome (autoimmune destruction of exocrine glands)
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Butterfly facial rash, arthritis, cytopenia and fever in a young female
SLE
Cervical lymphadenopathy, desquamating rash, coronary aneurysm, red conjuctivae and tongue, hand foot changes
Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys)
Painful fingers/toes changing color from white to blue to red with coldor stress
Raynaud phenomenon (vasospasm in extremities)
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
Ataxia, nystagmus, vertigo, dysarthria
Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement)
Dorsiflexion of large toe with fanning of others toes upon plantar escape
Babinski sign (UMN lesion)
Hyperphagia, hypersexuality, hyperorality
Klüver-Bucy syndrome (bilateral amygdala lesion)
Resting tremor, athetosis, chorea
Basal ganglia lesion
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)
“Worst headache of my life”
Subarachnoid hemorrhage
Dysphagia, hoarseness, v gag reflex, nystagmus, ipsilateral Horner Syndrome
Lateral medullary syndrome (posterior inferior cerebellar artery lesion)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Urinary incontinence, gait apraxia, cognitive dysfunction
Normal pressure hydrocephalus
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome (acute inflammatory demyelinating polyneuropathy)
Café-au-lait spots, Lisch nodules (iris hermatoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I
Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associates with Sturge-Weber syndrome)
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (deletion of VHL gene on chromosome 3p)
Bilateral vestibular schwannomas
Neurofibromatosis type 2
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Flaccid limb weakness, fasciculations, atrophy, bulbar palsy
UMN and LMN deficits
Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy
Friedreich ataxia
Unilateral facial dropping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
Episodic vertigo, tinnitus, sensorineural hearing loss
Méniere disease
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilteral or bilateral)
“Waxing and waning” level of consciousness (acute onset), v attention span, v level of arousal
Delirium (usually 2º to other cause)
Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets
Fanconi Syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Periorbital and/or peripheral edema, proteinuria (> 3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic Syndrome
Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation
Alport Syndrome (mutation in type IV collagen)
Wilms tumor, macroglossia, organomegaly, hemihyperplasia, omphalocele
Beckwith-Wiedemann syndrome (WT2 mutation)
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, 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)
Ovarian fibroma, ascites, pleural effusion
Meigs Syndrome
Fibrous plaques in tunica albuginea of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hypertrophy and hyperplasia of mucous cells, “blue bloater”)
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [alpha 1 - antitrypsin deficiency])
Bilateral hilar adenopathy, uveitis
Saarcoidosis (non caseating granulomas)
