Clinical presentations Flashcards
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
C. Diff infection
Achilles’ tendon xanthoma
Familial hypercholesterolemia
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
Anaphylaxis following blood transfusion
IgA deficiency
Anterior “drawer sign” +
ACL injury
Arachnodactyly, lens dislocation, aortic dissection, hyper flexible joints
Marfan syndrome (fibrillin defect)
Athlete with polycythemia
2° to erythropoietin injection
Back pain, fever, night sweats
Pott disease
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Black eschar on face of pt with diabetic ketoacidosis
Mucor or rhizopus fungal infection
Blue sclera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line- lead poisoning
Bone pain, bone enlargement, arthritis
Paget disease of the bone (increase osteoblastic and osteoclastic activity)
Bounding pulse, diastolic heart murmur, head bobbing
Aortic regurgitation
“Butterfly” facial rash and raynaud phenomenon in young female
SLE
Cafe-au-lait spots, Lisch nodules, cutaneous neurofibromas, pheochromocytoma, optic gliomas
Neurofibromatosis type 1, pheochromocytoma, optic gliomas
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune- Albright syndrome
Calf pseudohypertrophy
Muscular dystrophy (most common Duchenne, due to x linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctiva and tongue
Kawasaki disease (treat with IVIG and aspirin)
“Cherry red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central artery occlusion
Chest pain on exertion
Angina
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome
Chest pain with ST depressions on EKG
Unstable angina or STEMI
Child uses arms to stand up from squat
Gowers sign (Duchenne MD)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” erythema infectiosum/5th disease: parvovirus b19
Chorea, dementia, caudate degeneration
Huntington disease
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post hepatic venous thrombosis)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
Continuous “machine like” murmur
PDA
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome
Dark purple skin/mouth nodules in patient with AIDS
Kaposi sarcoma (HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul respirations
Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [B6] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida
Dry eyes, dry mouth, arthritis
Sjogren syndrome
Dysphasia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints, increase bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect)
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) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-herxheimer reaction (rapid lysis of spirochetes results in endotoxins release)
Fever, cough, coryza, conjunctivitis, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease
Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson disease)
Gout, intellectual disability, self mutilating behavior in a boy
Lesch-nyhan syndrome (HGPRT deficiency, x-linked recessive)
Hamartomatous GI polyps, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher disease (glucocerebridase deficiency)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (COPD)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis)
Painful, with exudate: chancroid (haemophilus ducreyi)
Infant with “cherry red” spot on macula, hepatosplenomegaly, neurodegeneration
Neimann-Pick disease (genetic sphyingomyelinase deficiency)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Large rash with bulls eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease)
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia (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 a-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [c5-c6] brachial plexus injury: “waiters tip”)
No lactation post partum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Painful blue fingers/toes, hemolytic anemia
Raynaud phenomenon (vasospasm in extremities)
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Painless erythematous lesions in palms and buttocks
Janeway lesions (infective endocarditis, septic emboli/microabsceses
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminuria, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
“Pink puffer”
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Pruritic, purple, polygonal planar papules and plaques
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Pupil accommodates but doesn’t react
Argyll-Robertson pupil (neurosyphilis)
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barré syndrome ( acute inflammatory demyelinating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain Spotted Fever
Recurrent cold (noninflamed) 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 pneumonia
Red “currant jelly” stools
Acute messenger ischemia (adults), intussusception (children)
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Red urine in morning, fragile RBCs
Paroxysmal nocturnal hemoglobinura
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpating of LLQ
Rovsing sign (acute appendicitis)
Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Short stature, café au lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA cross link 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
1° adrenicortical insufficiency (e.g. Addison disease) causes increased ACTH and increased a-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)