Syndromes

Question 1

Huntington disease =

Answer 1

Degeneration of GABAergic neurons in caudate nucleus of basal ganglia

Question 2

Gardner syndrome =

Answer 2

Osteomas, Lipomas, Dental abnormalities, Congenital hypertrophy of retinal epithelium

Question 3

Alports triad =

Answer 3

Nephritis, Hearing loss, Vision problems

Question 4

Hurler syndrome =

Answer 4

D, poor feeding, facial bone ∆’s after 9 months of normal life

Question 5

Klinefelter syndrome =

Answer 5

47, XXY –> male hypogonadism –> low T, high E, lack of 2˚ male sex characteristics, speech/language issues

Question 6

DiGeorge syndrome =

Answer 6

Pharyngeal arch failure –> decreased T cell maturation and repeated viral/fungal infections

Question 7

DiGeorge syndrome assc w/

Answer 7

Congenital heart defects, Cleft palate

Question 8

Onchocerciasis =

Answer 8

SubQ nodules + Iritis/eye pain d/t Onchocerca Volvulus transmitted via Black fly

Question 9

Lambert-Eaton syndrome =

Answer 9

Abs to pre-synaptic Ca channels d/t paraneoplastic syndrome from lung cancer

Question 10

Chediak-Highashi syndrome =

Answer 10

Recurrent extracellular bacterial infections, albinism, neuropathic dysfunction

Question 11

Wiskott-Aldrich syndrome =

Answer 11

Thrombocytopenic purpura + infections + eczema

Question 12

Sx’s = childhood neurologic dysfunction, cardiomyopathy, DM

Answer 12

Freidrich ataxia

Question 13

Pellagra =

Answer 13

Niacin deficiency –> 4 D’s = Dermatitis, Diarrhea, Dementia, Death

Question 14

Sx’s of Whipple disease =

Answer 14

Foul-smelling D, joint pain, neuro/cardiac Sx’s

Question 15

Sx’s of NF1

Answer 15

Cafe-au-lait spots, Lischen nodules, Pheo’s, Optic gliomas

Question 16

Sturge-Weber syndrome =

Answer 16

Congenital port-wine stain + ipsi AV malformation in meninges

Question 17

Tuberous Sclerosis =

Answer 17

Infant w/ mental retardation, facial angiofibromas, ash-leaf spots,

Question 18

Wernicke’s aphashia =

Answer 18

Difficulty comprehending spoken and written language w/ fluent, non-sensical speech

Question 19

Broca’s aphasia =

Answer 19

Difficulty forming words into a fluid speech pattern

Question 20

Sx’s of Choriocarcinoma in male =

Answer 20

Gynecomastia, enlarged testes, increased hCG

Question 21

Sx’s of Yolk-sac tumor =

Answer 21

Increased AFP, Schiller-Duval bodies in kids ~ 2 yo

Question 22

Ataxia-Telangiectasia =

Answer 22

Ataxia, Choreoarthetosis, Abnormal blood vessel formation, Recurrent sinus infections in 1-4 yo

Question 23

Freidrich-Ataxia =

Answer 23

Ataxia, Prop/vibratory loss, Inhibition of DTR’s in 5-15 yo

Question 24

Sx’s of Porphyria Cutanea Tarda =

Answer 24

Blisters on palms/forearms worse in sun, tea-colored urine

Question 25

Wallenberg syndrome =

Answer 25

Ipsi loss pain/temp in face, contra loss pain/temp in body, dysarthria, dysphagia, ataxia –> d/t occlusion of PICA

Question 26

Budd-Chiari syndrome =

Answer 26

Thrombosis of hepatic veins w/ collateral vessels in spider web formation in liver

Question 27

Fanconi syndrome =

Answer 27

PCT loss of protein, glucose, and minerals d/t toxoid drugs

Question 28

Strep Sanguinis is…

Answer 28

Valvular infection d/t dental procedure

Question 29

Von Gierke =

Answer 29

Fasting hypoglycemia, Increased liver glycogen, Increased serum lactate

Question 30

Pompe disease =

Answer 30

Hypotonia, CHF, Macroglossia, HM

Question 31

McArdle disease =

Answer 31

Fatigue, Myalgias, Muscle cramps, Myoglobinuria

Question 32

Sx’s of Huntingtons disease =

Answer 32

Chorea that can progress to dementia and depression

Question 33

Inheritance and gene assc w/ Huntingtons disease

Answer 33

AD; CAG repeats on chrom 4

Question 34

Meniere’s disease =

Answer 34

u/l hearing loss, aural fullness, and tinnitus w/ a normal MRI