Syndromes and Other Proper Nouns Flashcards
Autosomal recessive lower motor neuron disease which manifests clinically in infancy
Werdnig-Hoffmann Syndrome
Parkinsonism with autonomic dysfunction and orthostatic hypotension
Shy-Drager Syndrome
Wernicke Triad of Alcohol Encephalopathy
1) Ophthalmoplegia
2) Ataxia
3) Confusion
Charcot Triad of Multiple sclerosis
1) Nystagmus
2) Intention Tremors
3) Scanning Speech
Bilateral small pupils showing light-near dissociation, usually caused by Neurosyphilis
Argyll Robertson Pupil a.k.a. Prostitute’s Pupils
Triad of Hemochromatosis
1) Diabetes mellitus
2) Cirrhosis
3) Bronze skin pigmentation
Minute valveless veins in the walls of all four heart chambers
Thebesian veins
Key virulence factor of Neisseria Meningitides which causes phase variation to avoid immune system
Opa Factor
Assesses the disappearance of the gelatinous connective tissues in the middle ear of a child as proof that a live birth did happen
Wredin’s Test
Assesses the weight of the lungs to assess signs of live birth
Fodere’s Test
Procedure done in hernia repair where the conjoined transversus abdominis and internal oblique tendon is sutured to the Cooper ligament with interrupted nonabsorbable sutures.
McVay Procedure
Characteristic lymphocytes with cerebriform nuclei seen in blood smear of mycosis fungoides
Sezary cells
Hypogonadotropic hypogonadism condition characterized by delayed or absent puberty and an impaired sense of smell
Kallman’s Syndrome
Neuroendocrine cells of the GIT, also known as enterochromaffin cells
Kulchitsky cells
Characterized by recurrent aphthous ulcers, uveitis, and genital ulcers
Behcet Syndrome
Triad of Plummer Vinson Syndrome
1) Esophageal web
2) Severe iron deficiency anemia
3) Dysphagia/ atrophic glossitis
Condition wherein there is esophageal rupture leading to subcutaneous emphysema and pneumomediastinum
Boerhaave Syndrome
Gastric ulcer from severe burns
Curling ulcer
Gastric ulcer from increase in ICP
Cushing ulcer
Cutaneous manifestation of an internal malignancy; usually presents as multiple seborrheic keratitis
Leser Trelat Sign
FAP + Medulloblastomas or gliomas
Turcot Syndrome
FAP + Fibromas + Osteomas
Gardner Syndrome
Syndrome wherein there is a benign colonic polyp + mucocutaneous hyperpigmented patches on the lips, mucosa, etc.
Peutz-Jeghers Syndrome
Condition characterized by overproduction of uric acid in the body presenting as hyperuricemia, gout, urinary tract stones, agression, and dystonia
Leych Nyhan Syndrome
Mutation in the BLM gene which results to decreased helicase and therefore, deficient unwinding of the DNS
Bloom Syndrome
Mutation in transport of copper transporter gene; presents with kinky hair, hypotonia, and nervous system deterioration
Menkes Disease
Meknes is copper-colored
Deficiency of b-galactosidase
leading to the accumulation of galactosylceramide and demyelination in the CNS
Krabbe Disease
Crabbe and Goyle from HP
Deficiency of alpha-galactosidase leading to fat build-up; presents as acroparesthesias, angiokeratomas, hypohydrosis, and corneal opacity
Fabry Disease
Beta-glucosidase deficiency leading to organomegaly and osteodystrophy
Gaucher Disease
Accumulation of tau bodies due to sphingomyelinase deficiency; presents as vertical palsy of the eyes, hypotonia, and organomegaly
Niemann Pick Disease
Ceramidase deficiency of liposomes causing subcutaneous nodules and arthralgia of small joints
Farber Disease
Presents as kidney failure, hearing loss, and eye abnormalities
Alport Syndrome
Hypothesis which describes the behavior of O2 binding with Hgb in relation to pH and CO2
Bohr Effect
Describes the affinity of CO2 for Hgb binding
Haldane Effect
Hepatic and brain copper accumulation presenting as Kayser Fleischer rings, fatigue, and jaundice
Wilson Disease
Most severe form of mucopolysaccharidosis type 1; presents as coarsening of facial features, hepatosplenomegaly, (+) corneal clouding
Hurler Syndrome
Gargoylism -> stone eyes
Mucopolysaccharidosis type 2, presents as coarsened facial features, hepatosplenomegaly, mental retardation, (+) aggressive behavior
Hunter Syndrome
hunters are aggressive
MPS Type IV, presents with no neurologic impairment but with skeletal deformities
Morquio Syndrome
Most common MPS; MPS Type III, presents as multiple dev’t delays
San Filippo Syndrome
Cluster of interneurons in the ventral respiratory group of the medulla of the brainstem responsible for respiratory rhythm
pre-Botzinger Complex
Increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete K+ but retain Na+ and H2O
Liddle Syndrome
Incorporation of measurements to identify a dead body
Bertillon System
Hemangioma thrombocytopenia syndrome
Kasabach - Merrit Syndrome
Nevoid basal cell carcinoma syndrome characterized by jaw cysts and basal cell carcinoma lesions
Gorlin Syndrome
Triad of radiographic abnormalities characteristic of TB Arthritis
Phemister triad
1. Juxtaarticular osteoporosis
2. Peripherally located osseous erosions
3. Gradual narrowing of interoaseous spaces
