Classic presentations 1 Flashcards
1
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Opening snap
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Mitral valve stenosis, halting of stenotic mitral valve leaflets during mitral valve opening followed by diastolic rumble as turbulent blood flows past steontic mitral valve during left atrial contraction
1
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Short stature, broad shiled-like chest, webbed neck, primary ovarian failure
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Turner syndrome (45,XO)
2
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Stillborn fetus with nuchal edema, broad chest, coarctation of the aorta, horseshoe kidney
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Turner syndrome (45,XO)
3
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Tall male with gynecomastia, small testes, infertility
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Klinefelter syndrome (47, XXY)
4
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Holoprosencephaly, Microcephaly, polydactyly, rocker-bottom feet, facial abnormalities
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Trisomy 13 (Patau) 3rd most common autosomal trisomy, facial abnormalities include hypotelorism, microphtalmia, cleft lip, cleft palate, absent or malformed nose)
5
Q
Flat face, abnormal ears, slanted palpebral fissures, redundant skin at nape of neck, hypotonia, pelic dysplasia, single transverse palmar crease
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Trisomy 21
6
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Prominent occiput, micrognathia, small mouth, low-set malformed ears, rocker-bottom feet
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Edwards sydnrome (Trisomy 18)
7
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Clenched hands with index finger overriding middle finger and fifth finger overriding the fourth finger
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Edwards sydnrome (Trisomy 18)
8
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Low-grade fever, anorexia, nausea, dark colored urine (bilirubinuria), followed by RUQ tenderness
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Acute viral hepatitis (HAV)
9
Q
Stools are losse with blood and mucous
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Most stools are loose (inhibition of water by colon), inflammatory process releases blood and inflammatory elements, mucus into intestinal lumen due to denuding and ulceration caused by Shigella, EHEC, EIEC, C. difficile, or C. jejuni
10
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Poor feeding, Lethargy, vomiting, hypotonia, dehydration, anion gap acidosis in first few days of life
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PROPIONIC ACIDEMIA - congenital deficiency of propionyl CoA carboxylase (converts propionyl CoA to methlmalonyl CoA) causing propionyl CoA to accumulate
11
Q
Bone loss, renal stones, GI upset (ulcers), psychiatric disorders
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PRIMARY HYPERPARATHYROIDISM (hypercalcemia causes “bones, stones, groans, psychic moans)
12
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“Bones, stones, groans, psychic moans”
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Hypercalcemia
13
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Horner syndrome (50%), SVC syndrome, arm weakness, arm parasthesias, hoarseness
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APICAL LUNG TUMOR (Pancoast tumor, invades paravertebral sympathetic chain, compresses SVC, invades brachial plexis, recurrent laryngeal nerve)
14
Q
Triad of ipsilateral miosis, ptosis and anhidrosis
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Horner syndrome (often due to tumor invasion of paravertebral sympathetic chain)
15
Q
Fatigue, blurry vision, changes in color perception, nausea and vomiting, diarrhea, abdominal pain, headache, dizziness, confusion, delirium, bradycardia
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SE DIGOXIN leading to AV block, ventricular tachyarrhythmias, hyperkalemia frequently found
16
Q
Reddish nodule that ulcerates at site of thorn prick, lesion reveals granuloma consisting of histiocytes, multinucleated giant cells, neutrophils, surrounded by plasma cells
A
Sporothrix schenckii is a DIMPORPHIC FUNGUS causes subcutaneous mycosis. Often transmitted by THORN PRICK. Disease manifests with noduels that spread long lymphatics
17
Q
Tachycardia, hypotension, tachypnea, hypoxia, absence of breath sounds and hyperresonance to percussion on affected side.
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Tension pneumothorax - air enters pleural cavity during inspiration but is not expelled during exhalation. If neck injury, lung apices and cervical pleura extend ABOVE THE CLAVICLE! Trachea deviates away due to pressure
18
Q
Posterior neck mass composed of cystic spaces separated by connective tissue rich in lymphoid aggregates
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Cystic hygroma - tumor of neck (posterior triangle) apparent at birth in Turner’s syndrome
19
Q
Round face, cat-like cry, microcephaly
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cru du chat (5p-)
20
Q
55 year old treated for depression admitted to ER with dry mouth, flushed face, BP of 80/60 mmHg, HR 100 bpm, ECG QRS prolongation (0.12 msec) and frequent premature ventricular beats.
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TCA Overdose causing QRS and QT prolongation and cardiac dysrhtymias due to inhibition of fast sodium channels.
21
Q
29 year old Caucasian female complains of decreased vision and pain around eye aggravated by eye movement. Months later intention tremor of left arm.
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MS. Intention tremor is a sign of cerebellar dysfunction
22
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Pruritic vesicular rash on face, trunk and extremities
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VZV - shingles in adulthood
23
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Malar rash with “slapped cheek” appearance
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Parvovirus B19 - complication of aplastic crisis in SCA and immunocompromised
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Occipital and postauricular lymphadenopathy + Maculopapular rash starting on head, progressing to trunk and extremeties
Rubella virus - Congenital rubella syndrome is a complication
25
Maculopapular rash starting on head and progressing to trunk preceded by cough, coryza, conjunctivitis and koplic spots
Measles, complications include bronchopneumonia, encephalitis
26
High fever for 3-5 days with RASH APPEARING ONCE FEVER SUBSIDES, macules and papules initially on trunk and spread to extremeities
HHV 6 - Roseola infantum (children 6-15)
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SANDPAPER (diffuse erythematous rash with numerous small papules)-like rash that begins on neck, armpits, and groin then generalizes, associated with fever and sore throat (in child)
Scarlet fever caused by Streptococcus pyogenes (Group A beta-hemolytic), complications include Rheumatic fever, glomerulonephritis
28
Fever, ulcers on tongue and oral mucosa and maculopapular and/or vesicular rash on palms and soles
Hand-foot-mouth disease caused by coxsackievirus type A
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"Stop treating me like a child. My father treated me like a child for years and I've never been confident because of that!"
Transference
30
Diarrhea and weight loss for several months with diffuse bone pain and weakness. Symptoms resolve with gluten-free diet.
Diarrhea caused by celiac disease can lead to vitamin D deficiency through malabsorption. Decreased serum phosphorus, increased serum PTH (secondary hyperparathyroidism), low serum calcium.
31
Child with lethargy, feeding problems, constipation, macroglossia, umbilical hernia, large fontanels, dry skin, hypothermia, prolonged jaundice
Hypothyroidism
32
5 Month old boy with low-grade fevera nd runny nose. 5 days later presents to ER with progressive cough, tachypnea, agitation. PE bilateral wheezing, prolonged expiration, scattered rales.
Signs and symptoms (rhonchi, wheezing) of turbulent airflow secondary to airway obstruction, commonly associated with atopic asthma (rare in infants) or bronchiolitis. VIRAL BRONCHIOLITIS occurs in up to 15% of children under 2 years old, most commonly RS
33
Abdominal pain, skin pigmentation, hepatomegaly, deranged glucose homeostasis, cardiac dysfunction, atypical arthritis, hypogonadism in a 45 year old man.
HEMOCHROMATOSIS - defect in intestinal absorption of dietary iron resulting in storage of 0.5-1.0 grams of iron (primarily in parenchymal organs) each year. Manifesting only once 20 grams of iron have accumulated
34
1. Deep, poorly localized chest or arm discomfort (Angina) which is 2. reproducibly associated with physical exertion or emotional stress, and 3. relieved within 5 minutes by rest and/or sublingual nitroglycerin
3 2002 ACC/AHA diagnostic criteria for TYPICAL CHRONIC (STABLE) ANGINA PECTORIS
35
Delerium or psychosis with Dry flushed skin, hyperthermia, mydriasis, cycloplegia, bronchodilation, tachycardia, constipation, urinary retention
ATROPINE toxicity, ie if given to 70+ year old for bronchoscopy to reduce respiratory mucous secretion and promote bronchodilation. However, normal 3 hr half-life may prolong to 10-30 hours due to reduced clearance in elderly.
36
Confusion, headache, fever, impaired flexion of neck from muscle spasm of extensor muscles of neck
Meningitis, CSF shows elevated opening pressure, increased neutrophils, decreased glucose, elevated protein in bacterial
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Nuchal rigidity
Imparied flexion resulting from muscle spasm (not actual rigidity) of extensor muscles of neck; usually attributed to meningeal irritation
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Fever, urticaria (pruritic skin rash), arthralgias (joint pain), glomerulonephritis, lymphadenopathy, and low serum C3 levels.
Serum sickness is a type III hypersensitivity reaction characterized by deposition of circulating complement-fixing immune complexes resulting in vasculitis, with low C3 levels 5-10 days after intravascular exposure to antigen. Sulfonamides can provoke (T
39
Agitated, confused, severe abdominal cramps and diarrhea. Febrile, BP 220/130 and heart rate 140/min. PE = tremulous, dilated pupils, bilateral hyperreflexia and ankle clonus. Patient is on Metformin lisinopril, paroxetine.
Serotonin syndrome due to Paroxetine + Linezolid or tramadol, ondansetron, triptan
40
Insidious-onset progressive exertional dyspnea, PFT show restrictive profile, surgical biopsy show extensive interstitial fibrosis with paraseptal and subpleural cystic airspace enlargement (honeycomb lung)
Idiopathic pulmonary fibrosis - Alverolar wall collapse and form cystic spaces lined by hyperplastic type II pneumocytes or bronchiolar epithelium (honeycomb) MC cause 25% environment, 20% sarcoid, collagen vascular disease 10%.
41
Fever, fatigue, pallor, petechiae, bleeding in an 8 year old
Acute lymphoblastic leukemia (ALL) - most common malignancy of childhood: B-cell ALL in 70-80% of all cases of ALL, and T-cell ALL accounts for 15-17%. T-cell ALL often presents as mediastinal mass causing respiratory symptoms, dysphagia, or superior vena
42
Fever, fatigue, pallor, petechiae, bleeding in an 8 year old with dysphagia, respiratory symtomes
T-cell ALL (mediastinal mass) CD2+, CD3+, CD4+, CD5+, CD7+, CD8+. Both types TdT
43
23 year old caucasian male with severe recurrent severe nosebleds and pink spider-like lesions on his oral and nasal mucosa, face, and arms.
Osler-Weber-Rendu syndrome (Hereditary hemorrhagic telangiectasia) - AD inheritance of congenital telangiectasias to skin, mucous membranes of lips, oronasopharynx, respiratory tract, GIT, urinary tract. Rupture may cause epistaxis, GI bleeding, hematuria
44
Capillary hemangioblastomas in retina and/or cerebellum, congenital cysts and/or neoplasms in kidney, liver, pancreas
Von-Hippel-Lindau, AD, also at risk for RCC bilateral.
45
Neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of iris), hyperpigmented cutaneous macules (café au lait spots)
Von Recklinghausen's disease or neurofibromatosis type 1 (NF1), inherited PERIPHERAL NERVOUS SYSTEM tumor syndrome.
46
Subdural hematoma with bilateral retinal hemorrhages in an infant
Shaken baby syndrome
47
Maternal virilization during pregnancy and masculinization of female fetus
AROMATASE DEFICIENCY - female will develop primary amenorrhea and tall stature (estrogen needed to fuse epiphyses)
48
Kidney transplant, 3 weeks later complains of generalized malaise, increased serum creatinine, hypertension, and reduced urine output.
ACUTE REJECTION, usually asymptomatic but may have fever, chills, malaise, and arthralgias. Antibody-mediated or cell-mediated. Prednisone and tacrolimus reduce risk of developing acute rejection
49
75-year old male worked up for vision problems has MRI revealing multiple, small lobar hemorrhages in the right occipital and left parietal areas. Patient most likely suffers from:
Cerebral amyloid angiopathy - beta-amyloid is deposited into arterial wall weakening it predisposing to rupture. RECURRENT HEMORRHAGIC STROKE is the most common presentation of cerebral amyloid angiopathy
50
Hypotension, tachycardia, elevated CVP producing JVD, heart sounds muffled and systolic P drops more than 10 mmHg on inspiration (pulsus paradoxus)
Cardiac (or pericardial) tamponade
51
Total sensory loss on contralateral side of body
THALAMIC SYNDROME - due to vascular lesion of thalamus damaging thalamic VPL and VPM nuclei. proprioception is often profoudnly affected leading to difficulty ambulating and falls.
52
Man \>50 years old, smoker, alcohol use, weight loss, dysphagia first for solids, then solids + Liquids
Esophageal squamous cell carcinoma
53
23 year old Caucasian male with bilateral breast enlargement, tall stature, little body hair, testicles firm and small. Small penis, absent secondary male characteristics, mildly decreased IQ (common for this disease).
Klinefelter syndrome 47, XXY present in 82% of cases. One of the most common causes of male hypogonadism, reduced spermatogenesis, and male infertility
54
Low back pain radiating to one or both legs, saddle anesthesia, loss of anocutaneous reflex, bowel and bladder dysfunction (S3-S5 roots) and loss of ankle-jerk reflex with plantar flexion weakness of feet
Cauda equina syndrome - typically resulting from massive rupture of intervertebral disk causing DAMAGE to S2 through S4 NERVE ROOTS, due to compression of 2 or more of the 18 spinal nerve roots of the cauda equina
55
Blue-black pigemntation most evident in ears, nose, and cheeks
Ochronosis - retained homogentisic acid binding to collagen in connective tissues, tendons, cartilage seen in ALKAPTONURIA
56
Postprandial abdominal pain (30-60 minutes after food intake), weight loss, pain out of proportion to physical finding
Athersclerotic arterial changes diminish blood flow to intesting causing chronic mesenteric ischemia (similar pathogenesis to ANGINA PECTORIS)
57
Anemia, reticulocytosis, increased indirect bilirubin, elevated LDH, decreased haptoglobin
Hemolytic anemia
58
$ID melanoma [Get pic] 45-year old female brought to ER after having generalized tonic-clonic seizure. Family hx mother
Melanoma from Neural crest origin metastasizes to the brain: Lungs, Breast, #3 SKIN!
59
43 year old Caucasian male presents with several month history of pruritis, rash, flushing and abdominal cramps. Small bowel biopsy demonstrates mast cells within mucosa. Diagnosis?
SYSTEMIC MASTOCYTOSIS - abnormal proliferation of MAST CELLS and increased HISTAMINE SECRETION. Histamine increases the production of gastric acid by parietal cells. Gastric hypersecretion, therefore is a common occurrence in systemic mastocytosis
60
Constipation, episodi diarrhea, early satiety, and food stasis with subsequent vomiting
Gastric hypomotility (Gastroparesis) and may occur in patients with DM, uremia, hypothyroidism, and other metabolic disorders
61
36 year old female with longstanding vague epigastric abdominal pain and occasional nausea. Not related to food intake. Upper GI endoscopy shows erythema of antral mucosa. Biopsy shows inflammatory cell infiltrates.
Type B Chronic gastritis or ANTRUM-predominant or H PYLORI-associated chronic gastritis. Increased risk for gastric adenocarcinoma and MALT lymphoma (low-grade B-cell lymphoma) (Type A is Autoimmune, FUNDUS)
62
Presentation of acute vs chronic lung rejection
Acute - days to weeks, dry cough, dyspnea, fever (CXR parenchymal infiltrates); Chronic - fatigue, exertional dyspnea occuring months to years later
63
6-year-old male with vision problems, mental retardation dies of massive stroke, autopsy of MA shows thrombosis and old renal infarts.
HOMOCYSTINURIA - caused by cystathionine synthetase deficiency. Skeletal abnormalities resembling Marfan (elongated limbs, ectopia lentis, arachnodactyly, scoliosis. High risk of thromboembolism. 50% affected respond to high doses of vitamin B6, pyridoxin
64
Symptoms of Bell's palsy
unilateral facial paralysis with DECREASED TEARING in eye, hyperacusis, and/or loss of sensation over anterior 2-3s of tongue
65
Inability to sweat on right side of face
May be a symptom of horner's sydnrome - ptosis, miosis, anhydrosis, enophthalmos.
66
7 year old Caucasian boy with blisters, some broken with golden yellow crusts. Gram-positive cocci in chains
IMPETIGO - vesicular blistering eruption leading to formation of golden yellow crust associated with S. AUREUS or Streptococcus PYOGENES
67
Infant with facial dysmorphia, cleft palate, right-to-left shunt, absence of thymic shadow. Frequent sinopulmonary infections. Why?
DiGeorge syndrome causes extreme deficiency in the number of MATURE T LYMPHOCYTES leading to poor development of the lymph node paracortex.
68
41 year old male alcoholic complains of fever, weight loss and cough productive of foul smelling sputum. PE shows poor dentation. Most likely organisms in lung?
ASPIRATION Pneumonia inclues anaerobes + aerobes (infection with anaerobic oral flora Bacteroides, Prevotella, Fusobacterium, Peptostreptococcus)
69
Twisting involuntary movements and abnormal postures occuring 5 days on an anti-psychotic (High-potency neuroleptic)
ACUTE DYSTONIA (least common, most disabling hyperkinetic movement disorder associated with anti-psychotics)
70
After 4 weeks of beginning anti-psych meds, the patient returns for follow up with inner restlessness and inability to sit or stand in one position. Psychiatrist increases meds to address worsening psychotic behavior and agitation, symptoms worsen!
AKATHISIA (restlessness), caused by anti-psychotic therapy
71
Abrupt onset of gross hematuria in a patient with family hx of SCA
RENAL PAPILLARY NECROSIS
72
Dark, rust-colored or bloody urine and acute, colicky flank pain
Acute uteral obstruction from sloughed papillae RENAL PAPILLARY NECROSIS
73
Severly ill hospitalized patient develops severe gram negative rod infection and is treated with gentimycin develops oliguria, Elevated BUN and creatinine, Hyperkalemia and metabolic acidosis with increased anion gap. Diagnosis?
ACUTE TUBULAR NECROSIS - proximal tubule most susceptible to nephrotoxic aminoglycoside. Oliguria may persist for 2-3 weeks before tubular cells reenter cell cycle
74
2 classic signs consistent with paralysis of te serratus anterior muscle due to long thoracic nerve injury?
asked to press anteriorly against wall shows SCAPULAR "WINGING" and UNABLE to ABDUCT ARM HIGHER THAN HORIZONTAL. Serratus anterior required to rotate glenoid cavity superiorly.
75
Gastric and duodenal ulcers are seen in 90% of patients and Diarrhea in 50% of patients with ths disease
Zollinger-Ellison syndrome. Diarrhea occurs because pancreatic and intestinal enzymes are inactivated by gastric acid, so body can't digest nutrients. Majority of gastric secreting tumors are in pancreas, 2/3 are malignant
76
34 year old male presents with periodic abdominal pain. Upper GI endoscopy shows ulcer in distal duodenum. Basal gastric acid secretion is high.
ZE occurs due to hypersecretoin of gastrin by a PANCREATIC TUMOR. Gastrin increases gastric acid production, causing peptic ulcers in the majority of patients.
77
Severly ill hospitalized patient has one of these risk factors [sepsis, immunosuppression, total parenteral nutrition, major trauma, burns, DM, infections, mechanical ventilation, opiate use, CHD, transfusions, child birth, nonbiliary surgery] develops f
ACUTE ACALCULOUS CHOLECYSTITIS - acute inflammation of the gallbladder in absence of gallstones seen in hospitalized severly ill patient
78
Difficulty swallowing and blurred vision of sudden onset. (three 'Ds' = Diplopia, dysphagia and dysphonia)
C. botulinum bacteria from potent neurotoxin in food (readily killed by heating) but occurs within 12-46 hours of neurotoxin consumption
79
Fever and sore throat, past medical history significant for hyperthyroidism controled with medical therapy
AGRANULOCYTOSIS due to PTU or methimazole
80
Female at birth with ambiguous (virilized) genitalia
21-hydroxylase deficiency
81
Male infant with normal genitalia present later with SALT-WASTING or percocious puberty
21-hydroxylase deficiency
82
Marked menstrual cycle variability (irregular, menses last 7-10 days)
ANOVULATION - common during first 5-7 years after menarche and last 10 years before menopause
83
Confusion, sweating, tremors, heart palpitations
Hypoglycemia
84
Left-sided varicocele often indicates
Occlusion of left renal vein by malignant tumor or thrombus. Pateitns often present with sudden onsent of abdominal or flank pain and gross hematuria
85
Maculopapular rash begins on face, spreads to trunk and extremeties
Measles (rubeola) - Koplik spots; and german measles (rubella) - spreads faster and does not darken or coalesce + OCCIPITAL LYMPHADENOPATHY
86
febrile maculopapular rash begins on face, spreads to trunk and extremities + postauricular lymphadenopathy
Rubella (german measles), a togavirus
87
Lesion to which nerve? Eye deviates medially, horizontal diplopia
CN VI - lateral rectus that abducts the eye
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Lesion to which nerve? Eye deviates upward with vertial and torsional diplopia, difficulty going down stairs
CN IV - SO, internal rotation, depression and abduction
89
Lesion to which nerve? Eye deviaes down and lateral, diagonal diplopida, dilation of pupil and loss accomodation, ptosis
CN III - SR, MR, IR, IO, Levator palpebrae superioris - Adduct, depress, elevate, external rotate eye, most dreaded cause of CN III palsy is enlarging intracranial aneurysm
90
Cystic tumor in the cerebellum of a child
pilocytic astrocytoma
91
Woman with generalized weakness and parasthesias, Hypertension + low plasma renin activity
PRIMARY HYPERALDOSTERONISM - hypokalemia (causes weakness, parasthesias) and metabolic alkalosis, and non-suppressible aldosterone
92
Tender erythematous brown or purple papule, nodule, or plaque
Granulomatous response to FOREIGN BODIES (eg retained sutures)
93
39 year old presents with palpable nodularity of right breast. Lesion composed of ducts distended by pleopmrophic cells with prominent central necrosis. Lesion does not extend beyond ductal basal membrane
DCIS - precancerous breast lesion characterized by malignant clonal cell proliferation contained by surrounding ductal basement membrane
94
Tetany, distorted face (cleft palate), low set ears
DiGeorge syndrome
95
Male infant presents with vomiting, hypotension, hyponatremia, hyperkalemia 1-2 weeks after birth
21-hydroxylase deficieny - deficient cortisol and aldosterone synthesis combined with adrenal androgen overproduction
96
Thyroid nodule, mucosal neuromas of lips and tongue, arm span \> height with long fingers. Calcitonin elevated
Men 2b (MPM)- Medullary carcinoma of thyroid (calcitonin), Pheochromocytoma, Marfanoid habitus/Mucosal neuromas
97
Projectile non-bilious vomiting + Prominent peristalsis in epigastrium and olive-sized mass felt on deep palpation of RUQ. What is mass? Mechanism?
CONGENITAL PYLORIC STENOSIS secondary to hypertrophy of pyloric muscularis mucosae (SMOOTH MUSCLE HYPERTROPHY) Rx: Surgically split the muscle
98
Blood/gas partition coefficient
Measures solubility of anesthetic in blood . Drugs with high blood/gas partition coefficients are more soluble in blood and demonstrate slower onset of action and slow equilibration with brain
