Rapid Review

Question 1

Lesch-Nyhan Syndrome

Answer 1

HGPRT deficiency that is X linked will present with gout, intellectual disability, and self mutilating behavior in a boy

Question 2

Primary ciliary dyskinesia aka Kartagener syndrome

Answer 2

the dyenin arm is defective which affects the cilia it results in situs inversus, chronic ear infections, sinusitis, bronchiestasis, and infertility

Question 3

osteogenesis impefecta

Answer 3

is a type 1 collagen defect that results in blue sclera, multiple fractures, detal problems, and conductive hearing loss

Question 4

Ehlers-Danlos syndrome is

Answer 4

type 5 (V) collagen defect with a type II variant seen in the vacular subtype it presents with elastic skin, hypermobility of joints and increased bleeding tendency

when you think of ehlers danlos think of a elephant skin that lacts collagen (wrinkly elephant)

Question 5

marfan syndrome

Answer 5

is a fibrillin defect that causes arachnodactyly, upward and out lens dislocation, aortic dissection and hyperflexible joints

Question 6

homocytstinuria

Answer 6

is a autosomal recessive disease that causes arachnodactyly, petus deformitis and lens dislocation downward

Question 7

Mccune albright syndrome is

Answer 7

a Gs protein activating mutation that presents with cafre au lait spots, polyostotic fibrous dysplasia, precocious puberty and multiople endocrine abnormalities

Question 8

cystic fibrosis is

Answer 8

a CFTR gene defect on chromsome 7 (F508) that presents with meconium ileus in a neonate, recurrent pulmonary infections, nasal polyps, and pancreatic insufficiency

Question 9

Muscular dystrophy is

Answer 9

an X-linked recessive mutation in dystriophin (duchenne is the most common) and is a frameshift mutation that presents with calf pseudohypertrophy

Question 10

duchenne musclar dystrophy shows what sign

Answer 10

gower sign ( musclar dystrophy)

kid uses arms to stand up from squat

Question 11

becker muscular dystrophy

Answer 11

non frameshift X-linked recessive mutation in dystrophin that is less severe than ducheene and is a slow progressive muscle weakness in boys

Question 12

patau sydrome

Answer 12

trisomy 13 that is an infant with cleft lip/palate microcephaly or holoprosencephaly, polydactyly, and cutis aplasia

Question 13

edwards syndrome

Answer 13

trisomy 18 that presents with microcephaly, rocker bottom feet, clinched hands and structural heart defect

Question 14

Down sydnrome

Answer 14

trisomy 21 with a single palmar crease and intellectural disability

Question 15

cri-cu-chat syndrome

Answer 15

presents with microcephaly , high pitched cry, intellectual disability

congential deletion of the short arm on chromosome 5

Question 16

wernicke encephalopathy

Answer 16

confusion, opthalmoplegiaa, nystagmus, ataxia

with confabulation and memory loss if progresses to korsakoff syndrome

Question 17

wet beriberi

Answer 17

B1 thiamine deficiency that causes a dilated cardiomyopathy, high output failure and edema

Question 18

vitamin B5 def

Answer 18

burning feet syndrome

Question 19

Vitamin B 3 def (niacin)

Answer 19

pellegra: dermatitis, diarrhea, dementia

Question 20

vitamin C def

Answer 20

scurvy (cant hydroxylate proline/lysine for collagen synthesis)

tea and toast diet

symptoms: swollen gums, mucosal bleeding, poor wound healing, petechiae, corckscrew hairs

Question 21

vitamin D def

Answer 21

rickets in chilsren and osteomalacia in adults

bone pain, weakness, bowlegs in children

Question 22

vitamin K def

Answer 22

hemorrhagic disease of the newborn that presents with increase PT and PTT

Question 23

phenylketoneuria

Answer 23

musty body odor, intellectual disability, hypopigmented skin, and eczema

Question 24

alkaptonuria

Answer 24

homogentiaste oxidase deficiency that leads to blusish black connective tissue, ear cartilage, sclerae and ruine that turns black when exposed to air

Question 25

pompe disease

Answer 25

lysosomal a-1,4 glucosidase defiency that causing myopathy (cardio,) excerise intolerance

Question 26

cori disease

Answer 26

debranching enzyme defect with infant hypoglycemia and hepatomegaly

Question 27

Von gierke disease

Answer 27

glucose 6 phosphatase deficency that presents with infant hypoglycemia and hepatomegaly

Question 28

mcardle disease

Answer 28

muscle glycogen phophorylase def that presencts with chronic excercise intolerance, myalgia, fatigue, painful cramps and myoglobunirua

Question 29

Tay- Sachs disease

Answer 29

ganglioside accumulation with NO hepatosplenomagalt and cherry red spots on the macula

Question 30

Niemann Pick disease

Answer 30

sphingomyelin accumulation with heptosplenomegaly and cherry red spot on the macula

Question 31

what is a cherry red spot on the macula

Answer 31

central retinal artery occulsion

Question 32

gaucher disease

Answer 32

glucoverebrosidase (B glucosidase) def that has heptosplenomagly, pancytopenia, osteoposis, and avascular necrosis of the femoal head (crumpled up paper in bone)

Question 33

familial hypercholesterolemia

Answer 33

decrease in the LDL receptor signaling with achilles tendon xanthoma

Question 34

terminal complement deficiences (c5-C9)

Answer 34

recurrent neisseria infection

Question 35

bruton disease

Answer 35

x linked agammaglobulinemia that is in a male child that has recurrent infections with no mature B cells

Question 36

IgA deficiency

Answer 36

shows anaphlaxis after blood transfusion

Question 37

hyper IgE syndrome

Answer 37

aka job syndrome that has a an abnormalitiy in neutrophil chemotaxis which leads to high serum IgE, recurrent colds, abcesses, increased eosinophils

Question 38

leukocyte adhesion deficinecy

Answer 38

defective LFA-1 integrin that leads to late seperation of the umbilical cord, no pus, and recurrent skin and mucosal bacterial infections

Question 39

chronic granulomatous disease

Answer 39

NADPH oxidase deficiency that causes recurrent infections and granulomas with catalase + organisms

Question 40

staph toxic shock syndrome

Answer 40

fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon

Question 41

scarlet fever

Answer 41

sandpaper rash and strawberry tongue

Question 42

kawasaki disease

Answer 42

high fever for 5 days, lymphadenopathy and strawberry tongue ( rash on hands and feet)

Question 43

streptococcous bovis is associated with

Answer 43

colon cancer and infective endocarditis

Question 44

clostridium botulinum infection: floppy baby syndrome

Answer 44

flaccid paralysis in newborns after ingestion of honey

Question 45

clostridioes difficle infection

Answer 45

abdominal pain dirrhea, leukocytosis after recent antibiotic use

Question 46

corynebacterium diptheria infection

Answer 46

tonsillar pesudomembrane with bulls neck apperance

Question 47

Pott disease

Answer 47

vertebral TB that causes back pain, night sweats and fever

Question 48

water-house friderichsen syndrome

Answer 48

adrenal insuffiency, fever, DIC ## Footnote caused my neisseria meningitis

Question 49

klebsiella pneumoniae

Answer 49

red currant jelly sputum in patients with alcohol overuse or with diabetes

Question 50

erythema mirgans from Ixodes tick bite (lyme disease)

Answer 50

large rash with bulls eye apperance

Question 51

smooth, painless, moist wartlike lesion on genitals

Answer 51

condylomata lata

Question 52

neurosyphilis argyll robertson pupil

Answer 52

pupil accomodates but does not react to light

Question 53

Jarisch- Herxheimer reaction

Answer 53

fever, headache, myalgia after antibiotic treatment for syphillis

Question 54

pasturella multocida

Answer 54

cellulitis at inoculation site from a dog or cat bite

Question 55

mycoplasma pneumoniae infection

Answer 55

atypical walking pneumoniae with X- ray lookiing WORSE than the patient is

Question 56

what pathologies present with a rash on the palms and soles

Answer 56

Cocksackie A, secondary syphillis, and rock mountain spotted fever

Question 57

black eschar on face of patient with diabetic ketoacidosis and or neutropenia

Answer 57

mucor or rhizopus fungal infection

Question 58

chorioretinitis, hyrocephalus, and intracranial calcifications (MACROCEPHALY)

Answer 58

congeital toxoplasmosis ## Footnote CMV has microcephaly (MR DICS)

Question 59

serpiginous rash after walking barefoot and puritis

Answer 59

hook worm infection

Question 60

child with fever that later develops red rash on face that spreads to the body

Answer 60

erythema infectiosum (5th disease) with slapped cheeks (caused by parvo B19)

Question 61

measles

Answer 61

fever, cough, conjunctivitis, coryza, and diffuse rash

Question 62

Koplik spots

Answer 62

rubeola virus (measles) that are small irregular red spots on the buccal/lingual mucosa with blue white centers

Question 63

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

Answer 63

aortic regurgitation

Question 64

systolic cresendo decresendo ejection murmur, narrow pulse pressure, palsus parvus et tardus

Answer 64

aortic stenosis

Question 65

continuous machiene like heart murmur

Answer 65

PDA ## Footnote close with indomethacin and keep open with PGE analogs

Question 66

chest pain, pericardial effusion, friction rub, and persistent fever after an MI

Answer 66

dressler syndrome (autoimmune mediated post MI fibrinous pericarditis)

Question 67

beck triad of cardiac tamponade

Answer 67

distant heart sounds, distended neck veins, hypotension

Question 68

osler nodes

Answer 68

painful raised red lesions on the pads of finger or toes that is caused by immune complex deposition after infective endocarditis

Question 69

janeway lesions

Answer 69

painless erythematous lesions on the palms and soles that are due to septic emboli and microabcesses due to infective endocarditis

Question 70

roth spots

Answer 70

retinal hemorrhages with pale centers in infective endocarditis

Question 71

hereditary hemorhhagic telangiectasia (osler-weber- rendu syndrome)

Answer 71

telengectasia, recurrent epistaxis, skin discoloration, arteriovenous malformation, gi bleeding, hematuria ## Footnote AD disorder of blood vessles