rapid review- classical presentation Flashcards
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility
Primary ciliary dyskinesia or Kartagener syndrome (dynein arm defect affecting cilia)
Blue sclera, multiple fractures, dental problems, conductive hearing loss
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 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)
Café-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 insuficiency, infertility/subfertility
Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gowers sign)
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 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, intellectual disability
Down syndrome
Microcephaly, high-pitched cry, intellectual disability
Cri-du-chat (cry of the cat) syndrome
Confusion, ophthalmoplegia/nystagmus, ataxia
Wernicke encephalopathy (add confabulation/memory loss for Korsakoff syndrome)
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, corkscrew hairs
Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis); tea and toast diet
Bowlegs (children), bone pain, and muscle weakness
Rickets (children), osteomalacia (adults); vitamin D deficiency
Hemorrhagic disease of newborn withincreased PT,increased aPTT
Vitamin K deficiency
Intellectual disability, musty body odor, hypopigmented skin, eczema
Phenylketonuria
Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air
Alkaptonuria (homogentisate oxidase deficiency; ochronosis)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation; no hepatosplenomegaly); Niemann-Pick disease (sphingomyelin accumulation; hepatosplenomegaly); central retinal artery occlusion
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Recurrent Neisseria infection
Terminal complement deficiencies (C5-C9)
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Anaphylaxis following blood transfusion
IgA deficiency
Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, increased 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 positive organisms
Chronic granulomatous disease (defect of NADPH oxidase)
Fever, vomiting, diarrhea, desquamating rash following the use of nasal pack or tampon
Staphylococcal toxic shock syndrome
“Strawberry tongue”
Scarlet fever (sandpaper rash); Kawasaki disease (lymphadenopathy, high fever for 5 days)
Colon cancer associated with infective endocarditis
Streptococcus bovis
Flaccid paralysis in newborn after ingestion of honey
Clostridium botulinum infection (floppy baby syndrome)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridioides difficile infection
Tonsillar pseudomembrane with “bull’s neck” appearance
Corynebacterium diphtheria infection
Back pain, fever, night sweats
Pott disease (vertebral TB)
Adrenal insufficiency, fever, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Red “currant jelly” sputum in patients with alcohol overuse or diabetes
Klebsiella pneumoniae pneumonia
Large rash with bull’s-eye appearance
Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia)
Ulcerated genital lesion
Nonpainful, indurated: chancre (1° syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Smooth, moist, painless, wartlike white lesions on genitals
Condylomata lata (2° syphilis)
Pupil accommodates but doesn’t react to light
Neurosyphilis (Argyll Robertson pupil)
Fever, 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 infection (cellulitis, osteromyelitis)
Pasteurella Multocida (cellulitis at inoculation site)
Atypical “walking pneumonia” with x-ray looking worse than the patient
Mycoplasma pneumoniae infection
Rash on palms and soles
Coxsackie A, 2° 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 americanus)
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 “machinelike” 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 depressions 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)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/ micro-abscesses)
Splinter hemorrhages in fingernails
Infective endocarditis
Retinal hemorrhages with pale centers
Roth spots (infective endocarditis)
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Polyuria (water diuresis), polydipsia
Primary polydipsia, diabetes insipidus (central, nephrogenic)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (severe postpartum hemorrhage leading to pituitary infraction)
Heat intolerance, weight loss, palpitations
Hyperthyroidism
Cold intolerance, weight gain, brittle hair
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)
Carpal spasm upon inflation of BP cuff
Trousseau sign (hypocalcemia)
Rapid, deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respirations)
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances
Chronic 1° adrenal insufficiency (Addison disease) leading to increased ACTH and increased MSH
Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy
Acute adrenal insufficiency (adrenal crisis)
Pancreatic, pituitary, parathyroid tumors
MEN1 (autosomal dominant MEN1 mutation)
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (autosomal dominant RET mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus
MEN2B (autosomal dominant RET mutation)
Cutaneous flushing, diarrhea, bronchospasm, heart murmur
Carcinoid syndrome (increased urinary 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, bulimia 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 palpation 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; increased breast/GI cancer risk)
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)
Absent UDP-glucuronosyltransferase
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
Female, fat (obese), fertile (multiparity), forty, fair
Cholelithiasis (gallstones)
Painless jaundice with enlarged gallbladder
Cancer of pancreatic head obstructing the 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, uremic platelet dysfunction)
Fever, night sweats, weight loss
B symptoms of malignancy
Skin patches/plaques, Pautrier microabscesses, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary 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, long bone chalk-stick fractures
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
Systemic lupus erythematosus
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae 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 cold or 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
Dorsiflexion of large toe with fanning of other toes upon plantar scrape
Babinski sign (UMN lesion)
Truncal ataxia, nystagmus, head tilting, fall towards injured side
Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement)
Hyperphagia, hypersexuality, hyperorality
Klüver-Bucy syndrome (bilateral amygdala lesion)
Resting tremor, athetosis, chorea
Basal ganglia lesion
Dysphagia, hoarseness,gag reflex, nystagmus, ipsilateral Horner syndrome
Lateral medullary (Wallenberg) syndrome (posterior inferior cerebellar artery lesion)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery)
“Worst headache of my life”
Subarachnoid hemorrhage
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Urinary incontinence, gait apraxia, cognitive dysfunction
Normal pressure hydrocephalus
Resting tremor, rigidity, akinesia, postural instability, shuffling gait, micrographia
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Relapsing and remitting 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 hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type 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 (deletion of VHL on chromosome 3p)
Bilateral vestibular schwannomas
Neurofibromatosis type II
Hyperreflexia, hypertonia, Babinski sign present
UMN lesion
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN lesion
Staggering gait, frequent falls, nystagmus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy
Friedreich ataxia
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy; UMN lesions spare the forehead
Episodic vertigo, tinnitus, sensorineural hearing loss
Ménière 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)
“Waxing and waning” level of consciousness (acute onset),attention span,level of arousal
Delirium (usually 2° 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 (> 3.5 g/ day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Hereditary nephritis, sensorineural hearing loss, retinopathy, anterior lenticonus
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)
Ovarian fibroma, ascites, pleural effusion
Meigs syndrome
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Fibrous plaques in tunica albuginea of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer,” centriacinar [tobacco smoking] or panacinar [α1-antitrypsin deficiency])
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hypertrophy and hyperplasia of mucus-secreting glands, “blue bloater”)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
