Syndromes and Other Proper Nouns

Question 1

Autosomal recessive lower motor neuron disease which manifests clinically in infancy

Answer 1

Werdnig-Hoffmann Syndrome

Question 2

Parkinsonism with autonomic dysfunction and orthostatic hypotension

Answer 2

Shy-Drager Syndrome

Question 3

Wernicke Triad of Alcohol Encephalopathy

Answer 3

1) Ophthalmoplegia
2) Ataxia
3) Confusion

Question 4

Charcot Triad of Multiple sclerosis

Answer 4

1) Nystagmus
2) Intention Tremors
3) Scanning Speech

Question 5

Bilateral small pupils showing light-near dissociation, usually caused by Neurosyphilis

Answer 5

Argyll Robertson Pupil a.k.a. Prostitute’s Pupils

Question 6

Triad of Hemochromatosis

Answer 6

1) Diabetes mellitus
2) Cirrhosis
3) Bronze skin pigmentation

Question 7

Minute valveless veins in the walls of all four heart chambers

Answer 7

Thebesian veins

Question 8

Key virulence factor of Neisseria Meningitides which causes phase variation to avoid immune system

Answer 8

Opa Factor

Question 9

Assesses the disappearance of the gelatinous connective tissues in the middle ear of a child as proof that a live birth did happen

Answer 9

Wredin’s Test

Question 10

Assesses the weight of the lungs to assess signs of live birth

Answer 10

Fodere’s Test

Question 11

Procedure done in hernia repair where the conjoined transversus abdominis and internal oblique tendon is sutured to the Cooper ligament with interrupted nonabsorbable sutures.

Answer 11

McVay Procedure

Question 12

Characteristic lymphocytes with cerebriform nuclei seen in blood smear of mycosis fungoides

Answer 12

Sezary cells

Question 13

Hypogonadotropic hypogonadism condition characterized by delayed or absent puberty and an impaired sense of smell

Answer 13

Kallman’s Syndrome

Question 14

Neuroendocrine cells of the GIT, also known as enterochromaffin cells

Answer 14

Kulchitsky cells

Question 15

Characterized by recurrent aphthous ulcers, uveitis, and genital ulcers

Answer 15

Behcet Syndrome

Question 16

Triad of Plummer Vinson Syndrome

Answer 16

1) Esophageal web
2) Severe iron deficiency anemia
3) Dysphagia/ atrophic glossitis

Question 17

Condition wherein there is esophageal rupture leading to subcutaneous emphysema and pneumomediastinum

Answer 17

Boerhaave Syndrome

Question 18

Gastric ulcer from severe burns

Answer 18

Curling ulcer

Question 19

Gastric ulcer from increase in ICP

Answer 19

Cushing ulcer

Question 20

Cutaneous manifestation of an internal malignancy; usually presents as multiple seborrheic keratitis

Answer 20

Leser Trelat Sign

Question 21

FAP + Medulloblastomas or gliomas

Answer 21

Turcot Syndrome

Question 22

FAP + Fibromas + Osteomas

Answer 22

Gardner Syndrome

Question 23

Syndrome wherein there is a benign colonic polyp + mucocutaneous hyperpigmented patches on the lips, mucosa, etc.

Answer 23

Peutz-Jeghers Syndrome

Question 24

Condition characterized by overproduction of uric acid in the body presenting as hyperuricemia, gout, urinary tract stones, agression, and dystonia

Answer 24

Leych Nyhan Syndrome

Question 25

Mutation in the BLM gene which results to decreased helicase and therefore, deficient unwinding of the DNS

Answer 25

Bloom Syndrome

Question 26

Mutation in transport of copper transporter gene; presents with kinky hair, hypotonia, and nervous system deterioration

Answer 26

Menkes Disease | Meknes is copper-colored

Question 27

Deficiency of b-galactosidase | leading to the accumulation of galactosylceramide and demyelination in the CNS

Answer 27

Krabbe Disease | Crabbe and Goyle from HP

Question 28

Deficiency of alpha-galactosidase leading to fat build-up; presents as acroparesthesias, angiokeratomas, hypohydrosis, and corneal opacity

Answer 28

Fabry Disease

Question 29

Beta-glucosidase deficiency leading to organomegaly and osteodystrophy

Answer 29

Gaucher Disease

Question 30

Accumulation of tau bodies due to sphingomyelinase deficiency; presents as vertical palsy of the eyes, hypotonia, and organomegaly

Answer 30

Niemann Pick Disease

Question 31

Ceramidase deficiency of liposomes causing subcutaneous nodules and arthralgia of small joints

Answer 31

Farber Disease

Question 32

Presents as kidney failure, hearing loss, and eye abnormalities

Answer 32

Alport Syndrome

Question 33

Hypothesis which describes the behavior of O2 binding with Hgb in relation to pH and CO2

Answer 33

Bohr Effect

Question 34

Describes the affinity of CO2 for Hgb binding

Answer 34

Haldane Effect

Question 35

Hepatic and brain copper accumulation presenting as Kayser Fleischer rings, fatigue, and jaundice

Answer 35

Wilson Disease

Question 36

Most severe form of mucopolysaccharidosis type 1; presents as coarsening of facial features, hepatosplenomegaly, (+) corneal clouding

Answer 36

Hurler Syndrome | Gargoylism -> stone eyes

Question 37

Mucopolysaccharidosis type 2, presents as coarsened facial features, hepatosplenomegaly, mental retardation, (+) aggressive behavior

Answer 37

Hunter Syndrome | hunters are aggressive

Question 38

MPS Type IV, presents with no neurologic impairment but with skeletal deformities

Answer 38

Morquio Syndrome

Question 39

Most common MPS; MPS Type III, presents as multiple dev't delays

Answer 39

San Filippo Syndrome

Question 40

Cluster of interneurons in the ventral respiratory group of the medulla of the brainstem responsible for respiratory rhythm

Answer 40

pre-Botzinger Complex

Question 41

Increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete K+ but retain Na+ and H2O

Answer 41

Liddle Syndrome

Question 42

Incorporation of measurements to identify a dead body

Answer 42

Bertillon System

Question 43

Hemangioma thrombocytopenia syndrome

Answer 43

Kasabach - Merrit Syndrome

Question 44

Nevoid basal cell carcinoma syndrome characterized by jaw cysts and basal cell carcinoma lesions

Answer 44

Gorlin Syndrome

Question 45

Triad of radiographic abnormalities characteristic of TB Arthritis

Answer 45

Phemister triad 1. Juxtaarticular osteoporosis 2. Peripherally located osseous erosions 3. Gradual narrowing of interoaseous spaces