Clinical Presentation Flashcards
Infant with:
1) hypoglycemia
2) failure to thrive
3) Hepatomegaly
Cori’s disease
debranching enzyme deficiency
Infant with:
1) microcephaly
2) rocker-bottom feet
3) clenched hands
4) structural heart defect
Edward’s syndrome
trisomy 28
1) Jaundice
2) palpable distended non-tender gallbladder
Courvoisier’s sign
distal obstruction of biliary tree
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite
Lyme disease: Borrelia
Lucid interval after tramatic brain injury
Epidural hematoma
middle meningeal artery rupture
1) Male child
2) recurrent infections
3) no mature B cells
Bruton’s disease
X-linked agammaglobulinemia
1) Mucosal bleeding
2) prolonged bleeding time
Glanzmann’s thrombasthenia
(defect in platelet aggregation due to lack of
GpIIb/IIIa)
1) Muffled heart sounds
2) distended neck veins
3) hypotension
Beck’s triad of cardiac tamponade
1) Multiple colon polyps
2) Osteoma/soft tissue tumors
3) impacted/supernumerary teeth
Gardner’s syndrome
subtype of FAP
1) myopathy (infantile hypertrophic cardiomyopathy)
2) exercise intolerance
Pompe’s disease
lysosomal a-1,4-glucosidase deficiency
Neonate with arm paralysis following difficult birth
Erb-Deuchenne palsy
superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”
1) No lactation postpartum
2) absent menstruation
3) cold intolerance
Sheehan’s syndrome
pituitary infarction
1) Nystagmus
2) intention tremor
3) scanning speech
4) bilateral internuclear ophthalmoplegia
Multiple sclerosis
Oscillating slow/fast breathing
Cheyne-Strokes respirations
central apnea in CHF or increased intracranial pressure
1) Painful blue fingers/toes
2) hemolytic anemia
Cold agglutinin disease
autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, Infectious mononucleosis
Painful, pale, cold fingers/toes
Raynaud’s phenomenon
Vasospasm in extremities
Painful, raised red lesions on pad of fingers/toes
Osler’s node
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
1) Palpable purpura on buttocks/legs
2) joint pain
3) abdominal pain (child)
4) hematuria
Henoch-Schönlein purpura
IgA vasculitis affecting skin and kidneys
Pancreatic, pituitary, parathyroid tumors
MEN 1
autosomal dominant
1) Periorbital and/or peripheral edema
2) proteinuria
3) hypoalbuminemia
4) hypercholesterolemia
Nephrotic syndrome
1) Pink complexion
2) dyspnea
3) hyperventilation
“pink puffer”
Emphysema: centriacinar [smoking], panacinar [Alpha-1 antitrypsin deficiency]
Infant with:
1) failure to thrive
2) hepatosplenomegaly
3) neurodegeneration
Niemann-Pick disease
genetic sphingomyelinase deficiency
1) abdominal pain
2) ascites
3) hepatomegaly
Budd-Chiari syndrome
posthepatic venous thrombosis
Achilles tendon xanthoma
Familial hypercholesterolemia
decreased LDL receptor signaling
1) Adrenal hemorrhage
2) hypotension
3) DIC
Waterhouse-Friderichsen syndrome
meningococcemia
1) Arachnodactyly
2) lens dislocation
3) aortic dissection
4) hyperflexible joints
Marfan’s syndrome
fibrillin defect
Athlete with polycythemia
Secondary to erythropoietin injection
1) Back pain
2) fever
3) night sweats
4) weight loss
Pott’s disease
vertebral tuberculosis
1) Bilateral hilar adenopathy
2) uveitis
Sarcoidosis
noncaseating granulomas
Blue sclera
Osteogenesis imperfecta
type 1 collagen defect
Bluish line on gingiva
Burton’s line
lead poisoning
1) Bone pain
2) bone enlargement
3) arthritis
Paget’s disease of bone
increased osteoblastic and osteoclastic activity
1) Bounding pulses
2) diastolic heart murmur
3) head bobbing
Aortic regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic lupus erythematosus
1) Café-au-lait spots
2) Lisch nodules (iris hamartoma)
McCune-Albright syndrome
mosaic G–protein signaling mutation
Calf pseudohypertrophy
Muscular dystrophy
(most commonly Duchenne’s): X-linked recessive deletion of dystrophin gene
“Cherry–red spot” on macula
~Tay-Sachs (ganglioside accumulation)
~Niemann-Pick (sphingomyelin accumulation)
~central retinal artery occlusion
Chest pain on exertion
Angina
stable: with moderate exertion
(unstable: with minimal exertion)
1) Chest pain
2) pericardial effusion/friction rub
3) persistent fever following MI
Dressler’s syndrome
autoimmune–mediated post–MI fibrinous pericarditis, 1-12 weeks after acute episode
Child uses arms to stand up from squat
Gower’s sign
Duchenne muscular dystrophy
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks”
erythema infectiosum/5th disease: parvovirus B19
1) Chorea
2) dementia
3) caudate degeneration
Huntington’s disease
(autosomal dominant CAG repeat expansion)
(Chromosome 4)
(Decreased GABA and ACh)
1) Chronic exercise intolerance with myalgia
2) fatigue
3) painful cramps
4) myoglobinuria
McArdle’s disease
muscle glycogen phosphorylase deficiency
Cold intolerance
Hypothyroidism
1) Conjugate lateral gaze palsy
2) horizontal diplopia
Internuclear ophthalmoplegia
damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]
Continuous “machinery” heart murmur
PDA
close with indomethacin; open or maintain with misoprostol [PGs]
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
caused by hypothyroidism, Graves’ disease [peritibial]
Dark purple skin/mouth nodules
Kaposi’s sarcoma
usually AIDS patients [MSM]: associated with HHV-8
Deep, labored breathing/hyperventilation
Kussmaul breathing
diabetic ketoacidosis
1) Dermatitis
2) dementia
3) diarrhea
Pellagra
(niacin [vitamin B3] deficiency
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi
thiamine [vitamin B1] deficiency
Dog or cat bite resulting in infection
Pasteurella multocida
Cellulitis at inoculations site
1) Dry eyes
2) dry mouth
3) arthritis
Sjögren’s syndrome
autoimmune destruction of exocrine glands
1) Dysphasia (esophageal web’s)
2) glossitis
3) iron deficiency anemia
Plummer-Vinson syndrome
may progress to esophageal squamous cell carcinoma
1) Elastic skin
2) hypermobility of joints
Ehlers-Danlos syndrome
type III collagen defect
Enlarged, hard left supraclavicular node
Virchow’s node
abdominal metastasis
1) Erythrodermal
2) lymphadenopathy
3) Hepatosplenomegaly
4) atypical T cells
Sézary syndrome (cutaneous T-cell lymphoma) or
mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign
hypocalcemia
1) Fat
2) female
3) forty
4) fertile
Cholelithiasis
gallstones
1) Fever
2) cough
3) conjunctivitis
4) coryza
5) diffuse rash
Measles
Morbillivirus
1) Fever
2) night sweats
3) weight loss
B symptoms (staging) of lymphoma
Fibrous plaques is soft tissue of penis
Peyronie’s disease
connective tissue disorder
1) Gout
2) mental retardation
3) self-mutilating behavior in a boy
Lesch-Nyhan syndrome
HGPRT deficiency, X-linked recessive
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings
copper accumulation from Wilson’s disease
1) Hamartomatous G.I. polyps
2) hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
inherited, benign polyposis can cause bowel obstruction; increase cancer risk, mainly G.I.
1) Hepatosplenomegaly
2) osteoporosis
3) neurologic symptoms
Gaucher’s disease
glucocerebrosidase deficiency
1) Hereditary nephritis
2) sensorineural hearing loss
3) cataracts
Alport syndrome
mutation in alpha chain of collagen IV
1) Hyperphagia
2) hypersexuality
3) hyperorality
4) hyperdocility
Klüver-Bucy syndrome
bilateral amygdala lesion
1) Hyperreflexia
2) hypertonia
3) Babinski sign present
UMN lesion/damage
1) Hyporeflexia
2) hypotonia
3) atrophy
4) fasciculations
LMN lesion/damage
1) Hypoxemia
2) polycythemia
3) hypercapnia
“Blue bloater”
chronic bronchitis: hyperplasia of mucous cells
Indurated, ulcerated general lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with:
1) cleft lip/pallet
2) microcephaly or holoprosencephaly
3) polydactyly
4) cutis aplasia
Patau’s syndrome (trisomy 13)
1) Polyurea
2) renal tubular acidosis type 2
3) growth failure
4) electrolyte imbalances
5) hypophosphatemic rickets
Fanconi’s syndrome
proximal tubular reabsorption defect
Positive anterior “drawer sign”
Anterior cruciate ligament injury
ACL injury
Pruritic, purple, polygonal planar papules and plaques (6 P’s)
Lichen planus
1) Ptosis
2) meiosis
3) anhidrosis
Horner’s syndrome
sympathetic chain lesion
Pupil accommodates but doesn’t react
Argyll Robertson pupil
neurosyphilis
Rapidly progressive leg weakness that ascends following G.I./upper respiratory infection
Guillain-Barré syndrome
acute autoimmune inflammatory demyelinating polyneuropathy
Rash on palms and soles
~Coxsackie A
~Secondary syphilis
~Rocky Mountain spotted fever
Red “current jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stool
~Acute mesenteric ischemia (adults)
~intussusception (infants)
1) Red urine in the morning
2) fragile RBCs
Paroxysmal nocturnal hemoglobinuria
1) Renal cell carcinoma (bilateral)
2) Hemangioblastomas
3) angiomatosis
4) pheochromocytoma
von Hippel-Lindau disease
dominant tumor suppressor gene mutation
1) Resting tremor
2) rigidity
3) akinesia
4) postural instability
Parkinson’s disease
nigrostriatal dopamine depletion
Retinal hemorrhages with pale centers
Roth’s spots
bilateral endocarditis
Severe jaundice in neonate
Crigler-Najjar syndrome
congenital unconjugated hyperbilirubinemia
Severe RLQ pain with palpation of the LLQ
Rovsing’s sign
acute appendicitis
Severe RLQ pain with rebound tenderness
McBurney’s sign
appendicitis
1) Short stature
2) increased incidence of tumors/leukemia
3) aplastic anemia
Fanconi’s anemia
genetic loss of DNA cross-link repair; often progresses to AML
Single palmar crease
Simian crease
Down syndrome
1) Situs inversus
2) chronic sinusitis
3) bronchiectasis
4) infertility
Kartanger’s syndrome
dynein arm defect affecting cilia
1) Skin hyperpigmentation
2) hypotension
3) fatigue
Addison’s disease
primary adrenocortical insufficiency causes increased ACTH and increased Alpha-MSH production
Slow, progressive muscle weakness in boys
Becker’s muscular dystrophy
X-linked missense mutation in dystrophin; less severe than Duchenne’s
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles; rubeola virus)
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
Splinter hemorrhages in fingernails
Bacterial endocarditis
“Strawberry tongue”
~Scarlet fever
~Kawasaki disease
~toxic shock syndrome
1) Streak ovaries
2) congenital heart disease
3) horseshoe kidney
4) cystic hygroma at birth
5) short stature
6) webbed neck
7) lymphedema
Turner syndrome
45, XO
Sudden swollen/painful big toe joint, tophi
Gout/podagra
hyperuricemia
1) Swollen gums
2) mucosal bleeding
3) poor wound healing
4) spots on skin
Scurvy
vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis
Swollen, hard, painful finger joints
Osteoarthritis
osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes]
Systolic ejection murmur
crescendo-decrescendo
Aortic valve stenosis
1) Thyroid tumors
2) parathyroid tumors
3) pheochromocytoma
MEN 2A
autosomal dominant ret mutation
1) Thyroid tumors
2) pheochromocytoma
3) ganglioneuromatosis
MEN 2B
autosomal dominant ret mutation
Toe extension/fanning upon plantar scrape
Babinski sign
UMN lesion
Unilateral facial drooping involving forehead
Facial nerve
LMN CN VII palsy
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA–B27
Vascular birthmark (port-wine stain)
Hemangioma
benign, but associated with Sturge-Weber syndrome
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome
alcoholic and bulimic patients
1) Weight-loss
2) diarrhea
3) arthritis
4) fever
5) adenopathy
Whipple’s disease
Tropheryma whipplei
“Worst headache of my life”
Subarachnoid hemorrhage
Urinary incontinence (“what”)
Dementia/cognitive dysfunction (“wacky”)
Ataxia (“wobbly”)
Normal pressure hydrocephalus
