Rapid Review Flashcards
Lesch-Nyhan Syndrome
HGPRT deficiency that is X linked will present with gout, intellectual disability, and self mutilating behavior in a boy
Primary ciliary dyskinesia aka Kartagener syndrome
the dyenin arm is defective which affects the cilia it results in situs inversus, chronic ear infections, sinusitis, bronchiestasis, and infertility
osteogenesis impefecta
is a type 1 collagen defect that results in blue sclera, multiple fractures, detal problems, and conductive hearing loss
Ehlers-Danlos syndrome is
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)
marfan syndrome
is a fibrillin defect that causes arachnodactyly, upward and out lens dislocation, aortic dissection and hyperflexible joints
homocytstinuria
is a autosomal recessive disease that causes arachnodactyly, petus deformitis and lens dislocation downward
Mccune albright syndrome is
a Gs protein activating mutation that presents with cafre au lait spots, polyostotic fibrous dysplasia, precocious puberty and multiople endocrine abnormalities
cystic fibrosis is
a CFTR gene defect on chromsome 7 (F508) that presents with meconium ileus in a neonate, recurrent pulmonary infections, nasal polyps, and pancreatic insufficiency
Muscular dystrophy is
an X-linked recessive mutation in dystriophin (duchenne is the most common) and is a frameshift mutation that presents with calf pseudohypertrophy
duchenne musclar dystrophy shows what sign
gower sign ( musclar dystrophy)
kid uses arms to stand up from squat
becker muscular dystrophy
non frameshift X-linked recessive mutation in dystrophin that is less severe than ducheene and is a slow progressive muscle weakness in boys
patau sydrome
trisomy 13 that is an infant with cleft lip/palate microcephaly or holoprosencephaly, polydactyly, and cutis aplasia
edwards syndrome
trisomy 18 that presents with microcephaly, rocker bottom feet, clinched hands and structural heart defect
Down sydnrome
trisomy 21 with a single palmar crease and intellectural disability
cri-cu-chat syndrome
presents with microcephaly , high pitched cry, intellectual disability
congential deletion of the short arm on chromosome 5
wernicke encephalopathy
confusion, opthalmoplegiaa, nystagmus, ataxia
with confabulation and memory loss if progresses to korsakoff syndrome
wet beriberi
B1 thiamine deficiency that causes a dilated cardiomyopathy, high output failure and edema
vitamin B5 def
burning feet syndrome
Vitamin B 3 def (niacin)
pellegra: dermatitis, diarrhea, dementia
vitamin C def
scurvy (cant hydroxylate proline/lysine for collagen synthesis)
tea and toast diet
symptoms: swollen gums, mucosal bleeding, poor wound healing, petechiae, corckscrew hairs
vitamin D def
rickets in chilsren and osteomalacia in adults
bone pain, weakness, bowlegs in children
vitamin K def
hemorrhagic disease of the newborn that presents with increase PT and PTT
phenylketoneuria
musty body odor, intellectual disability, hypopigmented skin, and eczema
alkaptonuria
homogentiaste oxidase deficiency that leads to blusish black connective tissue, ear cartilage, sclerae and ruine that turns black when exposed to air
pompe disease
lysosomal a-1,4 glucosidase defiency that causing myopathy (cardio,) excerise intolerance
cori disease
debranching enzyme defect with infant hypoglycemia and hepatomegaly
Von gierke disease
glucose 6 phosphatase deficency that presents with infant hypoglycemia and hepatomegaly
mcardle disease
muscle glycogen phophorylase def that presencts with chronic excercise intolerance, myalgia, fatigue, painful cramps and myoglobunirua
Tay- Sachs disease
ganglioside accumulation with NO hepatosplenomagalt and cherry red spots on the macula
Niemann Pick disease
sphingomyelin accumulation with heptosplenomegaly and cherry red spot on the macula
what is a cherry red spot on the macula
central retinal artery occulsion
gaucher disease
glucoverebrosidase (B glucosidase) def that has heptosplenomagly, pancytopenia, osteoposis, and avascular necrosis of the femoal head
(crumpled up paper in bone)
familial hypercholesterolemia
decrease in the LDL receptor signaling with achilles tendon xanthoma
terminal complement deficiences (c5-C9)
recurrent neisseria infection
bruton disease
x linked agammaglobulinemia that is in a male child that has recurrent infections with no mature B cells
IgA deficiency
shows anaphlaxis after blood transfusion
hyper IgE syndrome
aka job syndrome that has a an abnormalitiy in neutrophil chemotaxis which leads to high serum IgE, recurrent colds, abcesses, increased eosinophils
leukocyte adhesion deficinecy
defective LFA-1 integrin that leads to late seperation of the umbilical cord, no pus, and recurrent skin and mucosal bacterial infections
chronic granulomatous disease
NADPH oxidase deficiency that causes recurrent infections and granulomas with catalase + organisms
staph toxic shock syndrome
fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon
scarlet fever
sandpaper rash and strawberry tongue
kawasaki disease
high fever for 5 days, lymphadenopathy and strawberry tongue ( rash on hands and feet)
streptococcous bovis is associated with
colon cancer and infective endocarditis
clostridium botulinum infection: floppy baby syndrome
flaccid paralysis in newborns after ingestion of honey
clostridioes difficle infection
abdominal pain dirrhea, leukocytosis after recent antibiotic use
corynebacterium diptheria infection
tonsillar pesudomembrane with bulls neck apperance
Pott disease
vertebral TB that causes back pain, night sweats and fever
water-house friderichsen syndrome
adrenal insuffiency, fever, DIC
caused my neisseria meningitis
klebsiella pneumoniae
red currant jelly sputum in patients with alcohol overuse or with diabetes
erythema mirgans from Ixodes tick bite (lyme disease)
large rash with bulls eye apperance
smooth, painless, moist wartlike lesion on genitals
condylomata lata
neurosyphilis argyll robertson pupil
pupil accomodates but does not react to light
Jarisch- Herxheimer reaction
fever, headache, myalgia after antibiotic treatment for syphillis
pasturella multocida
cellulitis at inoculation site from a dog or cat bite
mycoplasma pneumoniae infection
atypical walking pneumoniae with X- ray lookiing WORSE than the patient is
what pathologies present with a rash on the palms and soles
Cocksackie A, secondary syphillis, and rock mountain spotted fever
black eschar on face of patient with diabetic ketoacidosis and or neutropenia
mucor or rhizopus fungal infection
chorioretinitis, hyrocephalus, and intracranial calcifications (MACROCEPHALY)
congeital toxoplasmosis
CMV has microcephaly (MR DICS)
serpiginous rash after walking barefoot and puritis
hook worm infection
child with fever that later develops red rash on face that spreads to the body
erythema infectiosum (5th disease) with slapped cheeks (caused by parvo B19)
measles
fever, cough, conjunctivitis, coryza, and diffuse rash
Koplik spots
rubeola virus (measles) that are small irregular red spots on the buccal/lingual mucosa with blue white centers
bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
aortic regurgitation
systolic cresendo decresendo ejection murmur, narrow pulse pressure, palsus parvus et tardus
aortic stenosis
continuous machiene like heart murmur
PDA
close with indomethacin and keep open with PGE analogs
chest pain, pericardial effusion, friction rub, and persistent fever after an MI
dressler syndrome (autoimmune mediated post MI fibrinous pericarditis)
beck triad of cardiac tamponade
distant heart sounds, distended neck veins, hypotension
osler nodes
painful raised red lesions on the pads of finger or toes that is caused by immune complex deposition after infective endocarditis
janeway lesions
painless erythematous lesions on the palms and soles that are due to septic emboli and microabcesses due to infective endocarditis
roth spots
retinal hemorrhages with pale centers in infective endocarditis
hereditary hemorhhagic telangiectasia (osler-weber- rendu syndrome)
telengectasia, recurrent epistaxis, skin discoloration, arteriovenous malformation, gi bleeding, hematuria
AD disorder of blood vessles
