| Addison's Disease |
primary adrenocortical deficiency |
| Addisonian Anemia |
pernicious anemia |
| Aide?s tonic pupil |
LARGE pupil. rare, always benign. Fails
to constrict to both accommodation & light. After a prolonged attempt
it eventually constricts but sluggishly. Pupil redilates slowly (tonic). |
| Albright's Syndrome |
pseudohypoparathyroidism
Resistance to PTH. Hypocalemia & hyperphosphatemia + increased
PTH (negative feedback).
Manifestations in the genetic type (Ia): Subcutaneous ossifications,
brachydactyly, obesity, round facies, and short stature.
|
| Alport's Syndrome |
X-linked hereditary nephritis with nerve deafness
hematuria, family history of males progressing to end stage renal
disease.
Details
|
| Alzheimer's |
progressive dementia.
Details |
| Argyll-Robertson Pupil |
small pupil. Loss of light reflex.
Mnemonic |
| Arnold-Chiari Malformation |
herniation of the cerebellar tonsils |
| Barrett's esophagus |
columnar metaplasia of the esophagus due to chronic reflux esophagitis
(precancerous) |
| Bartter's Syndrome |
hyperreninemia |
| Becker's Muscular Dystrophy |
more benign than Duchenne muscular dystrophy (pseudohypertrophy),
appears in the 20s and 30s, no skeletal or heart abnormalities (deficiency
in dystrophin protein) |
| Bell's Palsy |
(Facial palsy)
Inflammatory swelling of the facial nerve in the facial canal of
the middle ear, leading in severe cases to an acute compression neuropathy.
Details
|
| Berger's Disease |
IgA nephropathy.
Details |
| Berry Aneurysm |
aneurysm of the circle of Willis (common cause of subarachnoid
hemorrhage) |
| Broca's Aphasia |
Motor Aphasia |
| Brown-Sequard |
hemisection of spinal cord
contralateral loss of pain & temperature
ipsilateral LMN lesion & loss of sensation at the level of the
lesion.
ispilateral hemiplegia, deep sensory loss below the level of the
lesion.
|
| Bruton's Disease |
X-linked agammaglobinemia |
| Budd-Chiari |
thrombosis of the hepatic veins.
Details |
| Buerger's Disease |
acute inflammation of small, arteries & veins with perivascular
fibrosis which blends artery, vein & nerve into one mass. Occurs in
smokers 95% are males.
painful ischemia progressing to gangrene.
|
| Burkitt's Lymphoma |
High grade non-Hodgkin's lymphoma. Common in children, rare
in adults. Endemic in Africa. |
| Caisson Disease |
Gas emboli due rapid decompression (diving). |
| Chagas' Disease |
(American Trypansomiasis) infection with protozoan parasite
Trypanosoma cruzi. Leads to heart affection progressing to heart
failure, achlasia and megacolon.
Details |
| Conn's Syndrome |
primary hyperaldosteronism.
Details |
| Creutzfeldt-Jakob |
prion disease (Mad Cow disease in cows) is a slow virus infection
of the CNS leading to cerebral degeneration (progressive
dementia).
Details |
| Crigler-Najjar Syndrome |
Congenital neonatal jaundice
Type I (Autosomal recessive - no glocuronyl transferase - leads
to kernicterus)
Type II (Autosomal dominant - diminished glocuronyl transferase).
Unconjugated.
Details
|
| Crohn's disease |
Inflammatory bowel
disease:
Deep with lymphocytic infiltrate
Skip lesions hence cobble stone appearance
Most commonly found in the terminal ileum. Can affect any area
from mouth to anus.
Details
|
| Curling's Ulcer |
Stress gastritis - associated with major trauma, burns, sepsis,
shock. |
| Cushing's Syndrome |
Hypercorticism.
Details |
| Cushing's Ulcer |
acute gastritis associated with intracranial lesions |
| de Quervain's Thyroiditis |
Subacute viral thyroiditis. Transient hyperthyroidism -->
hypothyroidism --> normal.
Exquisitely tender and woody hard and moderately enlarged.
Details
|
| DiGeorge's Syndrome |
dysmorphogenesis of the third and fourth pharyngeal pouches, leading
to hypoplasia or aplasia of the thymus and parathyroid glands -->
T-cell deficiency & hypoparathyroidism |
| Down's Syndrome |
Trisomy 21 |
| Dressler's Syndrome |
Autoimmune pericarditis following myocardial infarction. Rare. |
| Dubin-Johnson Syndrome |
congenital hyperbilirubinemia
Autosomal recessive appears at any age. Defect in bilirubin excretion
(conjugated). Liver biopsy shows melanin deposition.
|
| Duchenne Muscular Dystrophy |
(pseudohypertrophy), appears early, skeletal or heart abnormalities
are common (deficiency in dystrophin protein). |
| Edwards' Syndrome |
Trisomy 18 |
| Ehlers-Danlos Syndrome |
defective collagen.
Details |
| Eisenmenger's Complex |
reversing of left to right shunt in patients with ASD, VSD, patent
ductus arteriosus resulting in cyanosis.
Details |
| Erb-Duchenne Palsy |
trauma to superior trunk of brachial plexus Waiter's Tip |
| Ewing Sarcoma |
undifferentiated round cell tumor of bone. |
| Eyrthroplasia of Queyrat |
carcinoma in situ on glans penis |
| Fabry's Disease |
Rare, inherited disease in which lack of alpha-galactosidase causes
lipid deposition in the organs leading to organ failure. |
| Fanconi's Syndrome |
impaired proximal tubular reabsorption 2? to lead poisoning or
Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic
acidosis) |
| Felty's Syndrome |
rheumatoid arthritis, neutropenia, splenomegaly |
| Gardner's Syndrome |
adenomatous polyps of colon plus osteomas & soft tissue tumors |
| Gaucher's Disease |
Lysosomal Storage Disease glucocerebrosidase deficiency
hepatosplenomegaly, femoral head & long bone erosion,
anemia
|
| Gilbert's Syndrome |
congenital hyperbilirubinemia
defect in glocuronidation & hepatic uptake of bilirubin. Bilirubin
increases by fasting & phenobarbitone (unconjugated).
Appears in young adults, prognosis is excellent.
|
| Glanzmann's Thrombasthenia |
defective glycoproteins on platelets |
| Goodpasture's |
autoimmune: ab's to glomerular & alveolar basement membranes |
| Grave's Disease |
autoimmune hyperthyroidism (TSI).
Details |
| Guillain-Barre |
idiopathic polyneuritis (ascending muscle weakness & paralysis;
usually self-limiting).
Details |
| Hamman-Rich Syndrome |
idiopathic pulmonary fibrosis |
| Hand-Schuller-Christian |
chronic progressive histiocytosis |
| Hashimoto's Thyroiditis |
autoimmune hypothyroidism.
Details |
| Hashitoxicosis |
initial hyperthyroidism in Hashimoto's Thyroiditis that precedes
hypothyroidism.
Details |
| Henoch-Schonlein purpura |
hypersensivity vasculitis
hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
associated with upper respiratory infections
|
| Hirschprung's Disease |
aganglionic megacolon |
| Horner's Syndrome |
ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves
often 2? to a Pancoast tumor) |
| Huntington's |
progressive degeneration of caudate nucleus, putamen & frontal
cortex; AD |
| Jacksonian Seizures |
epileptic events originating in the primary motor cortex (area
4) |
| Job's Syndrome |
immune deficiency: neutrophils fail to respond to chemotactic
stimuli |
| Kaposi Sarcoma |
malignant vascular tumor (HHV8 in homosexual men) |
| Kartagener's Syndrome |
Autosomal Recessive. Defect in dynein arms leading to immotile
cilia this in turn leads to sterility and is associated with situs
inversus |
| Kawasaki Disease |
mucocutaneous lymph node syndrome (lips, oral mucosa) |
| Klinefelter's Syndrome |
47, XXY |
| Kluver-Bucy |
bilateral lesions of amygdala (hypersexuality; oral behavior) |
| Krukenberg Tumor |
adenocarcinoma with signet-ring cells (typically originating from
the stomach) metastases to the ovaries |
| Laennec's Cirrhosis |
alcoholic cirrhosis |
| Lesch-Nyhan |
HGPRT deficiency
gout, retardation, self-mutilation
|
| Letterer-Siwe |
acute disseminated Langerhans' cell histiocytosis |
| Levine sign |
Clenched fist over the sternum is a telling feature of cardiac
pain. |
| Libman-Sacks |
endocarditis with small vegetations on valve leaflets
associated with SLE
|
| Li-Fraumeni syndrome |
Autosomal dominant cancer predisposition syndrome, with multiple
cancers in an individual and their family.
Details |
| Lou Gehrig's |
Amyotrophic Lateral Sclerosis degeneration of upper & lower motor
neurons. Details |
| Mallory-Weis Syndrome |
bleeding from esophagogastric lacerations 2? to wretching (alcoholics) |
| Marcus-Gunn Pupil |
(Afferent pupillary defect) here repeated swinging of light from
one eye to the other shows constriction of both eyes and dilatation
of the affected eye. |
| Marfan's |
connective tissue defect |
| McArdle's Disease |
glycogen storage disease (muscle phosphorylase deficiency) |
| Meckel's Diverticulum |
rule of 2's: 2 inches long, 2 feet from the ileocecum, in 2% of
the population
embryonic duct origin; may contain ectopic tissue (gastric, pancreatic,
etc.)
|
| Meig's Syndrome |
Triad: ovarian fibroma,
ascites, hydrothorax |
| Menetrier's Disease |
giant hypertrophic gastritis (enlarged rugae; plasma protein loss) |
| Monckeberg's Arteriosclerosis |
calcification of the media (usually radial & ulnar aa.) |
| Munchausen Syndrome |
factitious disorder (consciously creates symptoms, but doesn't
know why) |
| Nelson's Syndrome |
1? Adrenal Cushings ----> surgical removal of adrenals ----> loss
of negative feedback to pituitary ? Pituitary Adenoma |
| Niemann-Pick |
Lysosomal Storage Disease sphingomyelinase deficiency
"foamy histiocytes"
|
| Osler-Weber-Rendu Syndrome |
Hereditary Hemorrhagic Telangiectasia |
| Paget's Disease |
abnormal bone architecture (thickened, numerous fractures ---->
pain) |
| Pancoast Tumor |
bronchogenic tumor with superior sulcus involvement ----> Horner's
Syndrome |
| Parinaud's syndrome |
preauricular lymph node enlargement on the same side as conjunctivitis. |
| Parkinson's |
dopamine depletion in nigrostriatal tracts |
| Peutz-Jegher's Syndrome |
melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous
polyps of small intestine |
| Peyronie's Disease |
subcutaneous fibrosis of dorsum of penis |
| Pick's Disease |
progressive dementia similar to Alzheimer's |
| Plummer's Syndrome |
hyperthyroidism, nodular goiter, absence of eye signs (Plummer's
= Grave's - eye signs) |
| Plummer-Vinson |
esophageal webs & iron-deficiency anemia, - SCCA of esophagus |
| Pompe's Disease |
glycogen storage disease ----> cardiomegaly |
| Pott's Disease |
tuberculous osteomyelitis of the vertebrae |
| Potter's Complex |
renal agenesis ----> oligohydramnios ----> hypoplastic lungs,
defects in extremities |
| Ramsay-Hunt's Syndrome |
Varicella Zoster infection of the geniculate ganglion. This results
in unilateral lower motor neuron lesions of the facial nerve. |
| Raynaud's |
Disease: recurrent vasospasm in extremities
Phenomenon: 2? to underlying disease (SLE or scleroderma)
|
| Reiter's Syndrome |
urethritis, conjunctivitis, arthritis non-infectious (but often
follows infections), HLA-B27, polyarticular |
| Reye's Syndrome |
microvesicular fatty liver change & encephalopathy
2? to aspirin ingestion in children following viral illness
|
| Riedel's Thyroiditis |
idiopathic fibrous replacement of thyroid |
| Rotor Syndrome |
congenital hyperbilirubinemia (conjugated)
similar to Dubin-Johnson, but no discoloration of the liver
|
| Schatzki's ring |
Lower esophageal ring at the junction between squamous and columnar
epithelium causing dysphagia to solids & liquids every 3-4 months
after a bolus of meat or bread. |
| Sezary Syndrome |
leukemic form of cutaneous T-cell lymphoma (mycosis fungoides) |
| Shaver's Disease |
aluminum inhalation ----> lung fibrosis |
| Sheehan's Syndrome |
postpartum pituitary necrosis |
| Schilling's test |
used to diagnose
pernicious
anemia |
| Shy-Drager |
parkinsonism with autonomic dysfunction & orthostatic hypotension |
| Simmond's Disease |
pituitary cachexia |
| Sipple's Syndrome |
MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid) |
| Sjogren's Syndrome |
triad: dry eyes, dry mouth, arthritis - risk of B-cell lymphoma |
| Spitz Nevus |
juvenile melanoma (always benign) |
| Stein-Leventhal |
polycystic ovary |
| Stevens-Johnson Syndrome |
erythema multiforme, fever, malaise, mucosal ulceration (often
2? to infection or sulfa drugs) |
| Still's Disease |
juvenile rheumatoid arthritis (absence of rheumatoid factor) |
| Takayasu's arteritis |
aortic arch syndrome
loss of carotid, radial or ulnar pulses
|
| Tay-Sachs |
gangliosidosis (hexosaminidase A deficiency ----> GM2
ganglioside) |
| Tetralogy of Fallot |
VSD, overriding aorta, pulmonary artery stenosis, right ventricular
hypertrophy |
| Tietze's syndrome |
self limiting costochondritis characterized by chest pain associated
with tenderness. |
| Tourette's Syndrome |
involuntary actions, both motor and vocal |
| Turcot's Syndrome |
adenomatous polyps of colon plus CNS tumors |
| Turner's Syndrome |
45, XO |
| Vincent's Infection |
"trench mouth" - acute necrotizing ulcerative gingivitis |
| von Gierke's Disease |
glycogen storage disease (G6Pase deficiency) |
| von Hippel-Lindau |
hemangioma (or hemangioblastoma)
adenomas of the viscera, especially renal cell carcinoma
|
| von Recklinghausen's |
neurofibromatosis & caf?au lait spots |
| von Recklinghausen's Disease of Bone |
osteitis fibrosa cystica ("brown tumor") 2? to hyperparathyroidism |
| von Willebrand's Disease |
defect in platelet adhesion 2? to deficiency in vWF |
| Waldenstrom's macroglobinemia |
proliferation of IgM-producing lymphoid cells |
| Wallenberg's Syndrome |
Posterior Inferior Cerebellar Artery (PICA) thrombosis "Medullary
Syndrome"
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain
& temp
|
| Waterhouse-Friderichsen |
catastrophic adrenal insufficiency 2? to hemorrhagic necrosis
(eg, DIC)
often 2? to meningiococcemia
|
| Weber's Syndrome |
Paramedian Infarct of Midbrain
Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face
& body)
|
| Wegener's Granulomatosis |
necrotizing granulomatous vasculitis of paranasal sinuses, lungs,
kidneys, etc. |
| Weil's Disease |
leptospirosis |
| Wermer's Syndrome |
MEN type I (thyroid, parathyroid, adrenal cortex, pancreatic islets,
pituitary) |
| Wernicke's Aphasia |
Sensory Aphasia impaired comprehension |
| Wernicke-Korsakoff Syndrome |
thiamine deficiency in alcoholics; bilateral mamillary bodies
(confusion, ataxia, ophthalmoplegia) |
| Whipple's Disease |
malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis |
| Wilson's Disease |
hepatolenticular degeneration (copper accumulation & decrease
in ceruloplasmin) |
| Wiskott-Aldrich Syndrome |
immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia
& eczema) |
| Wolff-Chaikoff Effect |
high iodine level (--)'s thyroid hormone synthesis |
| Zenker's Diverticulum |
esophageal; cricopharyngeal muscles above UES |
| Zollinger-Ellison |
gastrin-secreting tumor of pancreas (or intestine) ----> - acid
----> intractable ulcers |
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