Eponyms (M-P)
M
Macaulay's disease
Lymphomatoid papulosis, a low-grade cutaneous T-cell lymphoma.
MacCallum's plaques
Irregular thickenings, usually in the left atrium, from subendocardial lesions, usually exacerbated by regurgitant jets.
MacConkey medium
Medium for growing nonfastidious Gram-negative rods.
Macewen's sign
In hydrocephalus before closure of sutures, cracked pot sound when percussing over dilated ventricles.
Machado-Joseph disease
Spinocerebellar ataxia 3, named for affected families of Azorean origin, autosomal dominant disorder caused by a CAG expansion in gene on 14q, onset after age 40, associated with diabetes.
Mackler triad
In esophageal rupture, triad of vomiting, chest pain, and subcutaneous emphysema.
Macleod's syndrome
Unilateral hyperlucent lung, see Swyer-James syndrome.
Maddrey discriminant function
For predicting mortality in patients with alcoholic hepatitis, Maddrey DF = 4.6 x (PT-control PT) + serum bilirubin; DF > 32 associated with high short-term mortality, 1 month mort 35% in absence of encephalopathy and 45% if encephalopathy present.
Madelung deformity
Growth disturbance in the volar-ulnar distal radius that results in bowing of the distal end of the radius, resulting in radius shorter than the ulna; presents mainly in adolescent females; also associated with variant of dwarfism, dyschondrosteosis.
Madelung's disease
Benign symmetric lipomatosis; characterized by numerous, symmetrically distributed, non tender, poorly demarcated, fatty tumors; distributed mainly in vicinity of neck, sub-occipital region, proximal extremities, and upper part of trunk; can result in "horse-collar appearance." Also known as Launois-Bensaude syndrome.
Madura foot
Actinomycetoma of the foot; chronic bacterial infection of subcutaneous tissue often due to traumatic injury (e.g. from walking barefoot). Nocardia usual organism. Madura is a city in southern India.
Maffucci's syndrome
Enchondromatosis associated with soft tissue hemangiomas; associated with ovarian carcinomas and brain gliomas; essentially Ollier's disease with hemangiomas.
Magendie, foramen of
Midline foramen exiting out of fourth ventricle of the brain.
Maisonneuve fracture
Spiral fracture of the proximal third of the fibula associated with ankle fracture (rupture of the distal tibiofibular syndesmosis associated with fracture of the tibia and rupture of the deltoid ligament); usually from ankle eversion injury.
Majocchi granuloma
Infection of hair follicle from dermatophyte; foreign body granuloma most commonly due to Trichophyton rubrum infection, e.g. in young women who frequently shave their legs.
Majocchi's disease
Purpura annularis telangiectodes.
Mallampati classification
Score for predicting ease of intubation (1 through 4), higher score assocated with more difficult intubation and sleep apnea.
Mallory body
"Alcoholic hyalin", an eosinophilic intracytoplasmic inclusion in liver cells that is characteristic of alcoholic liver disease but also seen in e.g., primary biliary cirrhosis, Wilson's disease, chronic cholestatic syndromes, focal nodular hyperplasia, and hepatocellular carcinoma. Inclusions composed largely of intermediate filaments of prekeratin.
Mallory-Weiss tears
Small defects in gastroesophageal junction, from violent retching; originally described in the context of alcoholic gastritis, can lead to severe bleeding, 87% occur below gastroesophageal junction; bleeding stops 90% without intervention.
Malone procedure
Creation of a continent appendicostomy or neoappendix as a conduit for irrigation of the colon as treatment for fecal incontinence due to pediatric anorectal malformations, spina bifida, chronic constipation, etc. as an alternative to rectal enemas.
Malta fever
Brucellosis. Also known as Bang's disease.
Maltese cross
Fat droplets in urine.
Mantoux test
Test for tuberculosis with intradermal injection of purified protein derivative of tuberculin, 0.1 mL of 5 tuberculin units.
maple syrup urine disease
Deficiency in branched-chain alpha ketoacid dehydrogenase resulting in increased levels of branched chain alpha amino acids and alpha-keto analogs in plasma and urine, 1:200,000, high mortality. Urine has characteristic maple syrup smell.
Marburg's disease
Acute form of multiple sclerosis, fulminant and progressive.
Marchiafava-Bignami syndrome
Seen in malnourished alcoholics, necrosis of corpus callosum and subcortical white matter leading acutely to chronically to dementia, spasticity, dysarthria, gait disorder, and coma.
Marcus Gunn pupil
Afferent pupillary defect, pupil dilates instead of constricts because of optic nerve defect; named after Scottish ophthalmologist Robert Marcus Gunn.
Marfan's syndrome
Autosomal dominant, 1/10,000-1/20,000, from mutation in fibrillin-1 gene, associated with long limbs, dislocated lenses, and aortic root dilatation; 50% of children have dilatation of aorta; see also Loeys-Dietz syndrome.
Marie's sign
Fine tremor in hyperthyroidism.
Marie-Strümpell disease
Refers to ankylosing spondylitis in Europe.
Marine-Lenhart disease
Co-existence of TSH-dependent nodules and Graves's disease.
Marion's disease
Congenital obstruction of the posterior urethra.
Marjolin's ulcer
Squamous cell carcinoma ulceration overlying chronic osteomyelitis or burn scar.
Markesbery distal myopathy
Distal myopathy associated with rimmed vacuoles.
Markle sign
Jar tenderness in abdomen from heel drop as a localizing sign of peritoneal irritation; described in 1973.
Maroni sign
Erythema of the skin overlying thyroid in hyperthyroidism.
Maroteaux-Lamy syndrome
Mucopolysaccharidosis (VI) from arylsulfatase B deficiency leading to accumulation of dermatan sulfate characterized by skeletal dysplasia, corneal clouding, coarse facies, valvular heart disease.
Marshall syndrome
Pediatric condition characterized by periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA); origins of syndrome unknown.
Marshall syndrome
Dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural hearing deficit, from mutation in COL11A1; similar to Stickler syndrome.
Marshall, vein of
Oblique vein of left atrium.
Marshall-Smith syndrome
Accelerated skeletal maturation, failure to thrive, and dysmorphic facial features with death in early infancy or childhood from pulmonary infections.
Martin-Gruber anastomosis
Anatomic anomaly where there is a branch from the median to ulnar nerve in the forearm, innervating 1st dorsal interosseus, adductor pollicis, and abductor digiti minimi, seen in 10-44% of population.
Martin-Lewis agar
Variant of chocolate agar medium for growing Neisseria.
Martorell's ulcer
Punched out ulcers found on anterior external aspect of leg between middle and lower third of limb. Sharply demarcated, with surrounding halo of erythema, very painful, often crusted, relieved by placing leg in dependent position, . Associated with poorly controlled hypertension.
Mary Walker effect
Effect of physostigmine reversing the effects of myasthenia gravis; described in 1934; Mary Walker, an assistant medical officer at St. Alfege's Hospital in Greenwich England 1920-1936.
Masson body
Granulation tissue plug found in lumen of small airways in bronchiolitis obliterans obstructive pneumonia (BOOP).
Mattox maneuver
For gaining access to the retroperitoneal structures (including aorta), left medium visceral rotation.
Matuhasi-Ogata phenomenon
Non-specific binding of IgG to red blood cells due to the presence of other antibodies binding RBC surface.
Maurer's dots
Seen in P. falcipirum, stippling of erythrocytes.
Mauriceau-Smellie-Veit maneuver
In breech delivery, middle finger of one hand is placed in the mouth and thumb on chin to promote flexion and traction, while counter-pressure is applied to the occiput with the other hand.
Mayer-Rokitansky-Küster-Hauser syndrome
Absence of vagina from abnormality of müllerian development.
Mayer's reflex
Basal joint reflex; adduction of the thumb in response to flexion of the metacarpophalngeal joint of the ring finger in a person with a relaxed hand, a normal finding, a normal finding, but may be absent in pyramidal lesions.
May-Hegglin anomaly
Neutrophils with large pale blue inclusions resembling Döhle bodies, giant platelets (30-80 fL v. 7-10 normally), variable thrombocytopenia; rare autosomal dominant asymptomatic trait.
Mayne's sign
In aortic regurgitation, decrease in diastolic pressure of 15 mm Hg when arm is held above the head; of questionable utility since observed in 65% of normal people.
Mayo, veins of
Vein overlying pylorus.
May-Thurner syndromne
Iliofemoral deep vein thrombosis from impaired venous return due to compression of the left common iliac vein by overlying right common iliac artery.
Mazzotti reaction
Reaction to proteins released by dying onchocerca, including fevers, rashes, ocular damage, joint and muscle pain, and lymphangitis as well as hypotension, pyrexia, respiratory distress, and prostration.
McArdle's syndrome
glycogen storage disease V, deficiency in muscle phosphorylase, with consequent glycogen accumulation in skeletal muscle, produces painful muscle cramps and muscle weakness following exercise.
McBurney's point
One-third the distance from the anterior superior iliac spine to the umbilicus. This location corresponds to the most common location of the base of the appendix.
McBurney's sign
In appendicitis, tenderness at McBurney's point.
McConnell's sign
In acute pulmonary embolism, distinct regional pattern of RV dysfunction, with akinesia of the mid-free wall but normal motion at the apex, 77% sensitive, 94% specific for PE.
McCune-Albright syndrome
Triad of irregular café au lait spots, fibrous dysplasia of long bones with cysts, and precocious puberty; from activating mutation in GNAS1 gene.
McDonald's sign
In pregnancy, uterine corpus and cervix can be easily flexed on each other due to Hegar's sign.
McGinn-White sign
S1Q3T3 pattern in pulmonary embolism; described in 1935.
McLeod phenotype
Occurs from the absence of the Kx red blood cell antigen; characterized by acanthocytes; compensated hemolytic anemia; decreased Kell system antigens; increased CKMM isoenzymes; and progressive neurologic changes including areflexia, choreiform movements, dysarthria, wasting of muscles, and cardiomyopathy; may be associated with X-linked chronic granulomatous disease.
McMurray test
For diagnosing meniscal tear, passively flex hip and knee until heel touches buttock, steady the knee with one hand, externally rotate foot, then extend the knee to 90 degrees, return to the beginning and then internally rotate the foot, then passively extend the knee to 90 degrees, feeling for clicks, PPV 83% for tears.
McRoberts's maneuver
Flexion of mother's legs onto abdomen for shoulder dystocia, causing a significant cephalad rotation of the symphysis pubis and subsequent flattening of the sacrum.
Means-Lerman scratch
In hyperdynamic heart (as in hyperthyroidism), a systolic scratch occasionally heard in the second left intercostal space during expiration, presumed to be secondary to rubbing together of normal pleural and pericardial surfaces.
Meckel scan
99Tc pertechnetate scan that selectively tags acid secreting cells (gastric mucosa); it is used most often for unexplained bleeding in infants and young adults.
Meckel-Gruber syndrome
Sloping forehead, posterior encephalocele, polydactyly, and polycystic kidneys.
Meckel's cartilage
Branchial arch 1.
Meckel's cave
Located in skull base, site of trigeminal ganglion and its divisions. Described by Johann Meckel, the Elder; his grandson described Meckel's diverticulum.
Meckel's diverticulum
Persistence of vitelline duct, contains all 3 layers of bowel (mucosa, submucosa, muscularis propria), antimesenteric, present in 2% of population, usually within 30 cm of ileocecal valve. See also the "five 2s": 2 inches long, 2 feet from ileocecal valve, 2% of population, commonly persists in first 2 years of life, may have 2 types of epithelia.
Mediterranean anemia
Beta thalassemia.
Mediterranean fever, familial
Autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serositis (e.g. abdominal pain). recurrent attacks can be prevented by colchicine. Tends to affect group of people around the Mediterranean Sea. Due to mutation in MEFV gene encoding pyrin.
Mediterranean thromboctyopenia
In Southern Europe, inherited, mild thrombocytopenia with large platelets from mutation in GPIbalpha; genotype and phenotype similar to Bernard-Soulier disease.
Mees's lines
Horizontal white bands of the nails seen in chronic arsenic poisoning, and occasionally in leprosy; usually appears 6 weeks after exposue to arsenic; R. A. Mees, 20th century Dutch physician.
Meige's disease
Lymphedema praecox (in contrast to Milroy's disease).
Meige's syndrome
Blepharospasm with facial dystonia and lip smacking. Described by French neurologist Henri Meige in 1910.
Meigs's syndrome
Unusual combination of hydrothorax, ascites, and ovarian fibroma.
Meissner's corpuscle
Mechanoreceptor in the skin, sensitive to light touch, asymmetrical, lamellated.
Meissner's plexus
Submucous plexus; innervates glandular epithelium, muscularis mucosa, intestinal endocrine cells, and submucosal blood vessels.
MELAS
Mitochondrial EncephaLopathy with Acidosis and Stroke, onset in childhood, stroke-like episodes with hemiparesis, hemianopia, or cortical blindness; full expression of the disease leads to death often before age 20; 80-90% have point mutation in leucine tRNA in mtDNA.
Meleney's ulcer
Necrotizing fascitis.
Melkersson-Rosenthal syndrome
Triad of recurrent facial paralysis, recurrent and eventually permanent facial, especially labial edema, and plication of the tongue; etiology unknown; see also Miescher's cheilitis. Onset in childhood or adolescence.
Meltzer's triad
In cryoglobulinemia, triad of palpable purpura, arthralgia and myalgia.
Mendelson's syndrome
Chemical pneumonitis after aspiration of gastric contents.
Ménétrier's disease
Giant cerebriform enlargement of the rugal folds of the gastric mucosa, results from profound hyperplasia of the surface mucous cells with accompanying glandular atrophy, most often encountered in men (3:1), 40s-60s, sometimes in children. May produce epigastric discomfort, weight loss, and sometimes bleeding related to superficial rugal erosions, gastric secretions mostly mucous, little HCl, may cause sufficient protein loss to produce hypoalbuminemia.
Ménière's disease
Disorder of the inner ear with four classic symptoms: (1) fluctuating sensorineural loss, classically involving low frequencies; (2) vertiginous episodes; (3) aural pressure; (4) tinnitus (frequently roaring); pathologic changes consist of dilation of the endolymphatic system that leads to degeneration of vestibular and cochlear hair cells.
Menkes's disease
X-linked, problem in distribution of copper in the body, amount of copper and ceruloplasmin in serum reduced, excess of copper in intestinal mucosa, muscle, spleen, and kidney, associated with brittle hair; usually fatal by age 3. Believed to be due to defect in copper-transporting-ATPase (ATP7A).
Mentzer index
MCV/RBC ratio; >13 iron def, <13 thalassemia (Lancet 1973 Apr 21;1:882).
Merkel cell
Nerve ending cells located in the skin associated with sensory neurites in the dermal papillae, which are the mechanoreceptors of the skin; speculated to be the cell of origin of Merkel cell carcinoma.
Merkel cell carcinoma
Rare aggressive neuroendocrine tumor involving the skin, predominantly affects elderly Caucasians with a propensity for local recurrence and regional lymph node metastases.
MERRF
Myoclonic Epilepsy and Ragged Red Fibers, syndrome of mitochondrial myopathy, myoclonus, generalized seizures, intellectual deficits, ataxia, and hearing loss; extraocular movements normal; associated with point mutations in lysine tRNA in mtDNA.
Meyer's loop
A portion of the optic radiations subserving vision from the superior field coursing rostrally within the temporal lobe before heading caudally to the primary visual cortex; lesions produce contralateral upper quadrantanopia (pie in the sky).
Meynert, basal nucleus of
Group of nerve cells in the basal forebrain that are rich in acetylcholine. These cells degenerate in Alzheimer's disease.
Mibelli, porokeratosis of
Classic porokeratosis, localized, chronically progressive, hyperkeratotic, irregular plaques with central atrophy and prominent peripheral keratotic ridge; characterized pathologically by presence of cornoid lamella.
Michaelis-Guttmann bodies
Urinary tract basophilic inclusions. Felt to represent phagosomes mineralized by calcium and iron. Seen in malakoplakia, an inflammatory condition in immunocompromised patients involving urinary tract (rarely skin) with plaques or nodules.
Michel deformity
Congenital absence of the inner ear or labyrinthe aplasia.
Middlebrook media
Medium used for growing mycobacterium.
Miescher's cheilitis
Chelitis granulomatosa; recurrent labial edema on one or both lips; considered a monosymptomatic form of Melkersson-Rosenthal syndrome.
Mikulicz's syndrome
Bilateral inflammatory enlargement of the parotid, submaxillary, and sublingual, and lacrimal glands and xerostomia, secondary to sarcoidosis, leukemia, lymphoma, etc.
Milkman's fractures
In osteomalacia, radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric, found at the axillary margins of the scapula, lower ribs, neck of the proximal femurs, and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; also known as Looser's zones. Described by Milkman in 1930.
Millard-Gubler syndrome
Ventral pontine injury causing symptoms similar to Foville's syndrome except lateral rectus weakness only, instead of gaze palsy.
Miller Fisher syndrome
Variant of Guillain-Barré where cranial nerves are affected, leading to triad of ataxia, areflexia and ophthalmoplegia; cross-reacting antibodies to GQ1b ganglioside have been found; triggered by certain strains of C. jejuni. Described by neurologist, Charles Miller Fisher.
Miller Fisher test
For testing for normal pressure hydrocephalus, objective gait assessment before and after 30 cc CSF removed, reflecting prognosis for shunting (i.e. improvement after CSF removal). Described by Charles Miller Fisher.
Miller syndrome
Postaxial acrofacial dysostosis, autosomal recessive disorder associated with micrognathia, cleft palate, absent digits, supernumerary nipples, associated with mutation in DHODH.
Miller-Moses test
Water deprivation test for diagnosing diabetes insipidus.
Milroy's disease
Congenital lymphedema with swelling present from time of birth (in contrast to Meige's disease), mainly below the waist, associated with mutation in VEGF C/D receptor (VEGFR-3).
Milwaukee brace
Brace used for treating scoliosis of the back.
Milwaukee shoulder
Basic calcium phosphate disease associated with large joint destructive arthropathy (especially shoulder) and rotator cuff tears.
Mirizzi's syndrome
Extrinsic obstruction of the common bile duct from a cystic duct gallstone.
Mississippi mud
Refers to vancomycin's brownish, muddy appearance in early preparations.
Mitchell disease
Erythromelalgia, or vasodilation and burning pain of lower extremities. Primary erythromelalgia due to mutation in SCN9A, a voltage-gated sodium channel.
mitral facies
Malar flush with pinched and blue facies in mitral stenosis.
Mittelschmerz
Lower abdominal or pelvic pain during ovulation; occurs roughly halfway of menstrual cycle. From German for "middle pain."
Mobitz type I AV block
Wenckebach pattern, second degree block with intermittent conduction failure resulting in progressive PR prolongation before dropped beat; may be seen in ischemic heart disease, digitalis, beta blockers, calcium channel blockers, inferior wall myocardial infarction.
Mobitz type II AV block
Second degree block with intermittent conduction failure with sudden non-conducted sinus P wave without progressive prolongation of PR interval; not seen with digitalis excess or inferior wall myocardial infarction generally but may be seen with anterior wall MI.
Möbius syndrome
Congenital facial paralysis with or without limb defects associated with maternal misoprostol use.
Möbius's sign
In Graves's ophthalmopathy, failure of ocular convergence following close accommodation at a distance of 5 inches.
Modigliani syndrome
Thyroid in normal position, but with enhanced prominence and palpability, especially in individuals with long curving necks.
Moersch-Woltmann syndrome
Stiff-man syndrome; associated with antibodies to glutamic acid decarboxylase (GAD).
Mohs's surgery
Surgery involving microscopic examination of tissue being removed; generally used for skin cancers; developed by Frederic Mohs in the 1930s.
Mollaret's meningitis
Benign recurrent aseptic meningitis characterized by large monocytic cells in CSF; significant percentage due to HSV-2.
Mönckeberg's arteriosclerosis
Ring-like calcifications within the media of medium-sized to small muscular arteries (femoral, tibial, radial, and ulnar arteries, genital arteries), occurs almost exclusively in individuals over 50 years old; does not narrow lumen, distinct from atherosclerosis.
Mondini malformation
Cause of sensorineural hearing loss due to developmental anomaly of otic capsules with developmental arrest of cochlea in seventh fetal week; increased risk of developing recurrent meningitis or perilymphatic fistula.
Mondor's disease
Thrombophlebitis of superficial breast veins.
Monge's disease
Chronic mountain sickness, loss of high altitude tolerance after prolonged exposure, characterized by extreme polycythemia, exaggerated hypoxemia, and reduced mental and physical capacity; relieved by descent.
Monod's sign
In aspergillomas, radiolucent crescent seen around solitary 3-5 cm lesion on chest X-ray.
Monro, foramina of
Connects each of the lateral ventricles with the third ventricle in the brain.
Monro-Kellie doctrine
Cranial cavity is a closed rigid box, change in the amount of intracranial blood can occur only through changes in CSF quantity.
Monsel's solution
Ferric subsulfate, solution used for its styptic properties, i.e. stopping bleeding.
Monteggia fracture
Fracture of the proximal third of the ulna with a dislocation of radial head.
Montgomery, glands of
Sebaceous glands of areola.
Montreal platelet syndrome
Hereditary thrombocytopenia associated with mucocutaneous bleeding, giant platelets, and spontaneous platelet clumping in vitro; associated with type 2B VWD and the V1316M mutation.
Mooren corneal ulcers
Chronic, painful ulcers, involves circumference of peripheral cornea and may progress to vision loss. Most cases are idiopathic, some are associated with hepatitis C.
Morgagni, hydatids of
Fallopian tube cysts found near the fimbriated end or in the broad ligaments.
Morgagni's hernia
A form of congenital diaphragmatic hernia, anterior parasternal diaphragmatic hernia, right more common than left. Compare to Bochdalek hernia.
Morquio's syndrome
Mucopolysaccharidosis (IV) from N-acetylglucosamine-6-sulfate sulfatase deficiency leading to accumulation of keratan sulfate and chondroitin-6 sulfate, characterized by distinctive skeletal deformity, corneal clouding, odontoid hypoplasia, and aortic valve disease. Normal intelligence.
Morrison's pouch
Hepatorenal recess; the most posterior cavity in the peritoneal cavity.
Morton's neuroma
Interdigitial palmar neuroma.
Morvan's syndrome
Fibrillary chorea; neuromyotonia, pain, weight loss, severe insomnia and hallucinations, excess secretions (sweating, lacrimation, and salivation); associated with voltage-gated potassium channel antibodies.
Moschowitz syndrome
Thrombotic thrombocytopenic purpura, described in 1924.
Moses's sign
See Bancroft's sign.
Mott cells
Cytologic variant of plasma cells with globular cytoplasmic inclusions that contain immunoglobulin proteins (blue, grapelike cytoplasmic droplets); seen in multiple myeloma and trypanosomiasis.
Mounier-Kuhn syndrome
Tracheomegaly, tracheobronchomegaly associated with recurrent pneumonia, copious purulent sputum production, hoarseness, load cough; presents in 30s-40s, more common in males; tracheal lumen increases with Valsalva; autosomal recessive.
moyamoya disease
Occlusive disease involving large intracranial arteries, especially the distal ICA and stem of the MCA and ACA; "puff of smoke" (in Japanese, moya moya) appearance on angiography from lenticulostriate arteries developing rich collateral circulation around the middle cerebral occlusion that; anticoagulation challenging because of occurrence of SAH from rupture of the transdural anastomotic channels.
Mucha-Habermann disease
Pityriasis lichenoides et varioliformis acuta, scattered necrotic papules and vesicles that can resemble insect bites but usually are more generalized and symmetric. Felt to be a form of a self-limited lymphoproliferative disease.
Muckle-Wells syndrome
Syndrome of urticaria, progressive perceptive deafness, and amyloidosis; from mutation in cryopyrin; autosomal dominant. Of note familial cold autoinflammatory syndrome, commonly known as familial cold urticaria, characterized by intermittent episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold is also associated with mutations in cryopyrin.
Muehrcke's nails
Paired narrow horizontal white bands that are immobile as nail grows; seen in hypoalbuminemia, nephrotic syndrome.
Muenke syndrome
Nonsyndromic coronal craniosynostosis, associated with a specific mutation of the fibroblast growth factor receptor-3 gene (FGFR3), Pro250 to Arg.
Muir-Torre syndrome
Combination of hereditary nonpolyposis colon cancer (HNPCC) with benign or malignant sebaceous skin tumors (often basal cell or squamous cell). Originally described in 1967.
Mulder's sign
Palpable click in Morton's neuroma when compressing the forefoot and pushing up in the distal third intermetatarsal space.
Mullerian duct
In female embryonic development, duct that gives rise to fallopian tubes, uterus, and upper vagina.
Mullerian inhibiting substance
In embryonic development, gonadal peptide hormone that initiates regression of Mullerian duct during male sexual development.
Müller-Lyer illusion
Visual illusion involving two horizontal lines with arrows where line with inward facing arrows appears shorter than line with outward facing arrows.
Müller's maneuver
Reverse Valsalva maneuver.
Müller's sign
In aortic regurgitation, systolic pulsations of the uvula.
Munchausen's syndrome
Factitious disorder, eponym given by Asher in 1951 after Baron Karl Munchausen (1720-1797), retired German cavalry officer with a reputation for preposterous stories about his activities as a soldier, hunter.
Munro's microabscesses
In psoriasis, when neutrophils form small aggregates within the parakeratotic stratum corneum.
Murphy drip
Saline infusion in the rectum for treating peritonitis; also refers to continuous irrigation of the bladder; after John Benjmain Murphy surgeon (1896-1982) of Murphy's sign.
Murphy eye
Small hole in the side of the endotracheal tube that allows for ventilation if the distal end becomes occluded.
Murphy's punch sign
Tenderness over costovertebral angle suggesting pyelonephritis.
Murphy's sign
A sharp increase in tenderness with a sudden stop in inspiratory effort, sign of acute cholecystitis; 27-97.2% sensitive, 48.3% specific.
Mustard procedure
For treating transposition of great vessels, now rarely used; an atrial inversion procedure which connects RA to LV, which pumps out to pulmonary arteries, and connects LA to RV, which becomes systemic pump to aorta; variant uses pericardial or prosthetic intraatrial baffles.
Myerson's sign
Repetitive tapping (about twice per second) over the bridge of the nose producing a sustained blink response in parkinsonism and as a frontal release sign; also known as glabellar reflex. Normal response is to resist blinking.
N
Naclerio, V sign of
In esophageal rupture, V-shaped collection of air along mediastinum and diaphragm.
Nagayama spots
In roseola, erythematous papules on the soft palate and uvula.
Nägele's rule
Method for estimating date of delivery by counting back 3 months from the first day of the last menstrual period and adding seven days; full term 38 weeks after fertilization, 40 weeks after last menstrual period.
Nardi test
In relapsing pancreatitis, narcotic-induced stimulation or spasm reproducing abdominal pain and amylase elevation (for inferring sphincteric disease in any pancreatic or biliary ductal system without a gallbladder), presumably accurate in the diagnosis of perisphincteric disease.
Natowicz syndrome
Mucopolysaccharidosis type IX, from hyaluronidase deficiency. Characterized by short stature and multiple soft tissue masses around joints. Described by Natowicz in 1996.
Naxos disease
Initially described on Greek island of Naxos, syndrome of arrhythmogenic right ventricular cardiomyopathy, non-epidermolytic palmoplantar keratoderma, and woolly hair, due to deletion in plakoglobin, protein in adherens and desmosomal junctions.
Neer sign
In shoulder impingement, forcibly flexing the arm to an overhead position to produce pain from impingement of humerus against coracoacromial arch.
Negri bodies
In rabies virus-infected brain neurons, eosinophilic cytoplasmic inclusions.
Nelson's syndrome
Enlargement of a pituitary adenoma in a patient with Cushing's disease whose adrenals have been removed; from loss of feedback inhibition of cortisol.
Neu-Laxova syndrome
Autosomal recessive syndrome characterized by severe intrauterine growth retardation, microcephaly, abnormal brain development, edema, and icthyosis. First reported in 1971 by Neu et al. (Pediatrics 47;610-612).
Nezelof syndrome
Congenital immunodeficiency syndrome, autosomal recessive, due to thymic dysplasia.
Nicolau's syndrome
Livedo-like dermatitis from acute arterial thrombosis occurring immediately after intravascular injection of an insoluble drug substance.
Niemann-Pick disease
A sphingolipidosis where there is lysosomal accumulation of sphingomyelin and cholesterol, type A and B (deficiency of sphingomyelin-cleaving enzyme sphingomyelinase) and type C and D (enzyme normal or nearly normal, defect in esterification and transport); type A, 75-80% of all cases, extensive neurologic involvement, marked visceral accumulations of sphingomyelin, and progressive wasting and early death within the first 3 years of life); half have cherry red spot in macula as in Tay-Sachs disease.
Niikawa-Kuroki syndrome
See kabuki syndrome.
Nijmegen breakage syndrome
Primary immunodeficiency autosomal recessive disorder that presents as microcephaly, a distinctive "bird-like" facies, growth retardation, recurrent pulmonary infections, chromosomal instability, radiation hypersensitivity, and increased incidence of malignancies, especially lymphomas from mutation in nibrin protein, a protein involved in DNA repair; cellular defect similar to ataxia-telangiectasia.
Nikaidoh procedure
Procedure for patients born with a combination of transposition of the great arteries, ventricular septal defect, and pulmonary stenosis. In contrast with the Rastelli procedure, the Nikaidoh procedure creates a more "anatomically correct" left ventricular outflow tract. Also known as aortic translocation and biventricular outflow tract reconstruction.
Nikolsky's sign
Associated with pemphigus vulgaris; apparently normal epidermis next to blister may be separated at the basal layer and rubbed off when pressed with a sliding motion. See also Asboe-Hansen sign.
Nissen fundoplication
For treating gastroesophageal reflux disease, surrounding lower end of esophagus with cuff of gastric fundal muscle to increase lower esophageal sphincter competence.
Nissl bodies
In neurons, rough endoplasmic reticulum.
Nissl stain
Stains for cell bodies; dye binds to acid groups, in particular the RNAs of the ribosomes located within the cell body. Described by Franz Nissl, German medical student at time.
Noonan's syndrome
Turner's phenotypic characteristics without any sex chromosome abnormalities, males or females with congenital heart defect (usually pulmonic stenosis and hypertrophic cardiomyopathy), pectus carinatum, short stature, mild mental retardation, hypertelorism, and webbed neck; autosomal dominant; associated with mutation in nonreceptor protein tyrosine phosphatase SHP2 (PTPN11). Most common non-chromosomal cause of congenital heart disease.
Norman-Landing disease
GM1 gangliosidosis, a lysosomal storage disorder.
Norrie disease
X-linked disorder associated with very early childhood blindness due to degenerative changes of the retina; associated with mental retardation and psychotic-like features; due to mutation in gene encoding norrin.
Norwalk virus
Calcivirus associated with gastroenteritis; named after outbreak in a school in Norwalk, Ohio in 1969.
Norwegian scabies
Crusted scabies, highly contagious, psoriaform dermatosis of the hands and feet with dystrophy of the nails and an erythematous scaling eruption that may be generalized; itching minimal; seen in institutionalized patients, mentally retarded, and in patients with HIV, HTLV-1, or adult T cell leukemia. Initially described in Norwegian patients with leprosy in 1840s.
Norwood procedure
For treating hypoplastic left heart syndrome, anastomosis of proximal main pulmonary artery to aorta, with aortic arch reconstruction and transection and patch closure of distal main pulmonary artery; modified right Blalock-Taussig shunt (subclavian artery to right PA) to provide pulmonary blood flow. ASD created to allow for adequate left to right flow. See also Glenn shunt and Fontan procedure as subsequent stages.
Nothnagel's syndrome
Injury to superior cerebellar peduncle causing ipsilateral oculomotor palsy and contralateral cerebellar ataxia.
O
Ober's test
Provocative test for iliotibial band syndrome: patient lies on unaffected side and affected leg is abducted while knee is flexed to 90 degrees and leg is then released; positive for iliotibial band syndrome when thigh is released and thigh remains abducted.
Occam's razor
Described in 14th century, "plurality must not be posited without necessity", in other words, parsimony in diagnosis; by contrast, see Hickam's dictum.
Oddi, sphincter of
Sphincter around opening of common bile duct into the duodenum; Oddi, Italian anatomist and surgeon (1864-1913).
Ogilvie's syndrome
Massive idiopathic non-obstructive dilatation of the colon, can be sen in ill patients.
Oguchi disease
Congenital night blindness; asymptomatic during day; found to be due to mutations in arrestin (in Japanese Oguchi disease) and rhodopsin kinase (in European Oguchi disease).
Ohtahara syndrome
Early infantile epileptic encephalopathy with burst-suppression. EEG shows high voltage spike wave discharge followed by burst suppression. Assocated with death in childhood or progression into West's syndrome and Lennox-Gestaut syndrome. Ivan Cameron, son of David Cameron (UK prime minister) , died of this condition.
Okihiro syndrome
Association of forearm malformations with Duane syndrome of eye retraction; associated with mutations in SALL4.
Oliver's sign
In aortic aneurysm, pulsation of aorta felt through cricoid cartilage when chin is elevated.
Ollendorf's sign
Tender papule in secondary syphilis.
Ollier's disease
Syndrome of multiple enchondromas. Increased risk of sarcoma. No known genetic component.
Omenn's syndrome
Combined immunodeficiency associated with hypereosinophilia, erythroderma, hepatosplenomegaly, lymphadenopathy, alopecia; autosomal recessive; associated with mutations in Rag-1 and Rag-2 proteins and decreased V(D)J recombination efficiency. Also associated with mutation in ARTEMIS protein (involved in opening coding end hairpins).
Ommaya reservoir
Device implanted under the scalp that communicates with the CSF and allows intrathecal delivery of therapeutic agents (e.g., chemotherapy).
Ondine's curse
Failure of the automatic control of ventilation, named after mythological tale in which the suitor of Neptune's daughter was cursed to lose automatic control over all bodily functions; associated with mutation in ret proto-oncogene; associated with Hirschsprung's disease.
Onufrowicz, nucleus of
Parasympathetic neurons in the sacral spinal cord that innervate the sphincters of the bowel and bladder.
Opitz syndrome
Also known as Opitz GBBB syndrome. Hypospadias-dysphagia syndrome or telecanthus with associated abnormalities; associated with midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum.
Oppenheim's sign
Involuntary dorsiflexion of the toes when stroking the medial/anterior tibial surface superiorly to inferiorly, indicating upper motor neuron defect.
Ormond's disease
Retroperitoneal fibrosis.
Oroya fever
From Bartonella bacilliformis (transmitted by sandfly vector Phlebotomus found in valleys of the Andes mountains, 600-2500 m): profound intravascular hemolytic anemia of a few weeks duration, associated with lesions called verruga peruana resembling Kaposi's sarcoma; also known as Carrión's disease.
Ortner's syndrome
Hoarseness from compression of left recurrent laryngeal nerve by a dilated left atrium (e.g., in mitral stenosis), enlarged tracheobronchial lymph nodes, and dilated pulmonary artery.
Ortolani's sign
In congenital hip dislocation, rotate hip with patient in supine position and hip abducted; a "clunk" or "click" represents congenitally dislocated hip.
Osborn wave
EKG with distinctive convex "hump" at J point associated with hypothermia and temperature around 32C.
Osgood-Schlatter's disease
Epiphysitis of tibial tubercle resulting from repeated powerful contractions of the quadriceps; seen in adolescents with open physis.
Osler's nodes
In endocarditis, tender to painful, purplish, split pea-sized, subcutaneous nodules in the pulp of the fingers and/or toes and thenar and hypothenar eminences; transient, disappearing within several days (5% of patients). In acute bacterial endocarditis, associated with minute infective emboli. In subacute bacterial endocarditis, associated with immune complexes and small-vessel arteritis of skin.
Osler's sign
Palpable brachial or radial artery when cuff pressure greater than systolic pressure.
Osler-Weber-Rendu disease
Hereditary hemorrhagic telangiectasia, larger lesions can be a source of chronic blood loss, systemic emboli, hypoxemia, hepatic dysfunction, and a high-output cardiac failure. Important risk factor for brain abscess, especially in affected patients with clubbing, cyanosis, and/or polycythemia. Can be treated with aminocaproic acid (an antifibrinolytic agent.
Ota, nevus of
Pigmentation mostly involving the skin and mucous membranes innervated by the first and second branches of the trigeminal nerve.
Ottawa ankle rules
Decision guide for managing acute ankle injury and ordering ankle and foot x-ray series. Ankle x-ray series required only if there is any pain in the malleolar zone and any of these findings: bony tenderness at posterior edge or tip of lateral malleolus, base of fifth metatarsal, or inability to bear weight both immediately and in emergency department. Foot x-ray is required only if there is any pain in the midfoot zone and any of these findings: bone tenderness at base of fifth metatarsal, bone tenderness at navicular, or inability to bear weight both immediately and in emergency department.
Ouchterlony reaction
Test based on the precipitin reaction where antigen and antibody are placed in separate wells cut in agar; precipitate forms a band between wells at the optimal concentration; described by Ouchterlony in 1948.
Owren's disease
Factor V deficiency; also known as parahemophilia.
P
Pacinian corpuscles
Mechanoreceptor nerve ending located in skin, sensitive for vibration and touch; symmetrical, lamellated.
Paget's disease of bone
Osteitis deformans, characterized by initial osteolytic stage followed by a mixed osteoclastic-osteoblastic stage, which ends with osteoblastic activity and evolves into a burnt-out osteosclerotic stage. Increased alkaline phosphatase and increased urine hydroxyproline observed.
Paget's disease of breast
Breast cancer involving nipple and areola, appears as eczematous rash over breast with crusting, scaling, or erosion.
Paget's disease of vulva
Intraepithelial adenocarcinoma, less than 1% of all vulva malignancies.
Paget-Schroetter syndrome
Deep vein thrombosis of subclavian or axillary vein. May be spontaneous or may occur after activity.
Palla's sign
In pulmonary embolism, enlarged right descending pulmonary artery.
Pallister-Hall syndrome
Disorder associated with polydactyly and cutaneous syndactyly. Hypothalamic hamartoma characteristic, bifid epiglottis. Autosomal dominant, due to mutation in GLI3, involved in hedgehog pathway. See also Greig syndrome, which is also due to mutation in GLI3.
Panayiotopoulos syndrome
Benign childhood partial seizure characterized by vomiting, deviation of the eyes, and seizures lasting for more than 30 min (without permanent injury).
Pancoast's tumor
Apical lung cancers in the superior pulmonary sulcus which invade neural structures around the trachea, including the cervical sympathetic plexus, leading to severe pain in distribution of the ulnar nerve and Horner's syndrome on same side of the lesion.
PANDAS
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections. Consists of tics, movement disorders, emotional-lability, and obsessive-compulsive behavior associated with streptococcal infection. Caused by IgG antibodies which recognize group A streptococcal cell wall proteins as well as neuronal cytoplasmic antigens of the basal ganglia. Related to Sydenham's chorea.
Paneth cells
In small intestine crypts, cells with apically-oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system.
Panner disease
Avascular necrosis or osteochondrosis of the capitellum (head of humerus).
Panton-Valentine leukocidin
Cytotoxin associated with increased virulence of Staph. aureus (especially community-acquired MRSA) and involved in pathogenesis of necrotic lesions and necrotizing pneumonia.
Pap smear
Smear of cervical cells developed by Papanicolaou, reported in 1941, used for screening and prevention of cervical cancer.
Papez circuit
Pathway from subiculum to the mamillary body and back to the cingulate gyrus believed to play a role in emotion (initially) and memory.
Papillon-Lefevre disease
Early development of severe periodontal disease, palmoplantar keratosis; autosomal recessive; associated with mutation in cathepsin C gene.
Pappenheimer bodies
Small dark blue irregularly shaped iron-containing granules often in clusters found in red blood cells. Smaller than Howell-Jolly body, commonly seen in sideroblastic anemias, thalassemias, megaloblastic anemias, and in post-splenectomy states.
Pardee waves
Symmetrically inverted T waves in myocardial ischemia or infarction.
Parinaud's oculoglandular syndrome
Preauricular node enlargement associated with chronic granulomatous conjunctivitis; an atypical form of cat scratch disease from inoculation near eye.
Parinaud's syndrome
Dorsal midbrain syndrome with supranuclear vertical gaze disorder from damage to posterior commissure with loss of upgaze, convergence-retraction nystagmus, downward ocular deviation, lid retraction, due to hydrocephalus from aqueductal stenosis, pineal region tumors.
Paris-Trousseau syndrome
A variant of Jacobsen's disease, mild hemorrhagic tendency associated with 11q deletion, thrombocytopenia, attributed to deletion of FLI1.
Parkinson's disease
Degenerative disorder of central nervous system due to degeneration of dopaminergic neurons of the substantia nigra which project to the striatum; characterized by tremor, rigidity, akinesia, and gait disturbance. Described by James Parkinson in 1817.
Parkland formula
For calculating amount of intravenous fluids to give in burn patients: total body surface area % burned x kg x 4; 1/2 in first 8 hours, second 1/2 given next 16 hours.
Parry-Romberg syndrome
Acquired progressive hemifacial atrophy of the lower face, typically without significant cutaneous involvement; a variant of morphea/scleroderma.
Parsonage-Turner syndrome
Acute brachial neuritis or neuralgic amyotrophy; classically severe pain followed by weakness in the brachial plexus, associated with winging of the scapula.
Passy-Muir valve
Speaking valve for patients with tracheostomy developed by Patricia Passy and David Muir.
Pastia's sign
Associated with scarlet fever (group A streptococcus or S. aureus rarely); confluent, finely punctate erythema (scarlatiniform) on the lower trunk and thighs with petechiae having a linear configuration in the inguinal regions .
Patau's syndrome
Trisomy 13, 1/15,000 births, mental retardation, microcephaly, microphthalmia, brain abnormalities, cleft lip and palate, polydactyly, rocker-bottom feet, and congenital heart disease. Extra chromosome 13 described by Klaus Patau in 1960.
Patrick sign
Hip pain on external rotation of the hip in hip joint disease that may refer pain to back and thighs.
Patterson-Brown-Kelly syndrome
Plummer-Vinson syndrome.
Paul-Bunnell test
Agglutination of sheep red blood cells by heterophile antibodies.
Paul-Bunnell-Davidsohn test
Extension of classic Paul-Bunnell test for heterophile antibody; uses guinea pig kidney cells to first absorb Forsmann antibodies found in normal individuals, followed by test for sheep erythrocyte agglutination.
Pautrier's microabscesses
See Sézary-Lutzner cells.
Pearson syndrome
Refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction from mitochondrial DNA mutation.
Pedro Pons sign
In spondylitis from brucellosis, erosion antero-superior corner of lumbar vertebrae and marked osteophytosis.
Pel-Ebstein fever
In Hodgkin's disease, unusual systemic manifestation of a periodic fever that is present for some days, remits, and then returns.
Pelger-Hüet anomaly
Dumbbell-shaped, hypolobated nuclei in neutrophils seen in blood of acute myelogenous leukemia (e.g., M2) or myelodysplastic syndromes. May be inherited as autosomal dominant trait from mutation in laminin B receptor.
Pelizaeus-Merzbacher disease
Mutation in proteolipid protein on X chromosome, a major protein in CNS myelin; results in hypomyelination confined to the CNS, widespread white matter dysfunction, leading to seizures, mental retardation, and death in childhood; see "tigroid" appearance on tissue sections stained for myelin.
Pellegrini-Stieda syndrome
Calcification of medial collateral ligament at its femoral insertion; usually due to trauma.
Pemberton's sign
In SVC (superior vena cava) obstruction, development of facial plethora, inspiratory stridor, and non-pulsatile elevation of the JVP when patient lifts arms over head.
Pendred's syndrome
Autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin, a transport protein that affects organification of thyroglobulin; also see malformations of cochlea and hypothyroidism (40%); pendrin involved in transport of chloride and iodide.
Percheron, artery of
Anatomic variant where artery arises from posterior communicating artery and then gives rise to bilateral medial thalamic perforators; occlusion results in bilateral paramedian thalamic infraction. An example where cerebral vessel supplies structures on both sides of the midline.
Perlia's nucleus
Cell group located between motor neuron groups innervating left and right medical rectus muscles; felt to be involved in ocular convergence.
Perl's stain
Stain for iron; tissue section treated with hydrochloric acid to release ferric ions from binding proteins; section then treated with potassium ferrocyanide to produce an insoluble blue compound (the Prussian blue reaction).
Perthes syndrome
Traumatic asphyxia from crush injury to the chest, associated with petechiae in chest, subconjuctival hemorrhage.
Perthes test
Testing for competence of deep femoral veins; tourniquet is applied at mid-thigh with patient standing and patient then walks for 5 min with tourniquet pin place; reduction in size of veins indicates patent valves and lumens.
Petersen's hernia
Hernia involving the space between the mesentery of the Roux limb and the transverse colon; can occur following gastric bypass surgery.
Peutz-Jeghers syndrome
Rare autosomal dominant syndrome characterized by multiple hamartomatous polyps scattered throughout the GI tract and melanotic mucosal and cutaneous pigmentation around the lips, oral mucosa, face, genitalia, and palmar surfaces; patients have increased risk of carcinomas of pancreas, breast, lung, ovary, uterus, and malignant transformation in small bowel polyps, colon cancer, sex cord tumors with annular tubules of the ovary; associated with mutation in STK11/LKB1 gene and dysregulation of mTOR.
Peyrone's salt
Cisplatin; first synthesized by Peyrone in 1845.
Peyronie's disease
Penile fibromatosis, a palpable induration or mass appears on the dorsolateral aspect of the penis. It may cause eventually abnormal curvature of the shaft or constriction of the urethra, or both.
Pfannenstiel's incision
Low transverse abdominal incision with retraction of the rectus muscles laterally, used in ob/gyn procedures.
Pfeiffer bacterium
H. influenza, found in respiratory tracts of people ill with flu in 1890.
Pfeiffer syndrome
Craniosynostoses as well as limb defects, broad thumbs, broad great toes. Due to mutations in FGFR1, autosomal dominant inheritance.
Phalen's maneuver
In carpal tunnel syndrome, palmar flexion of the wrist to 90 degrees for 1 minute exacerbates or reproduces symptoms, paresthesias; 75% sensitive 47% specific.
Phemister's triad
In arthritis from tuberculosis, radiographic triad of periarticular osteoporosis, peripherally located osseous erosions, and gradual narrowing of the joint space.
Philadelphia chromosome
Seen in 95% of chronic myelogenous leukemia (210 kD tyrosine kinase), 2-5% childhood ALL (180 kD TK), higher percent in adult. Reciprocal and balanced translocation between chr22 (bcr, breakpoint cluster region) and chr9 (c-abl); c-abl-bcr encodes a chimeric protein with tyrosine kinase activity; genomic imprinting, chr9 paternal and chr22 maternal.
Pick bodies
In neurons, cytoplasmic, round to oval, filamentous inclusions that strongly stain with silver, weakly eosinophilic; composed of neurofilaments, vesiculated endoplasmic reticulum, and paired helical filaments that are immunocytochemically similar to those found in Alzheimer's disease. Associated with Pick's disease.
Pick cells
Characteristic swelling of neurons in Pick's disease.
Pick's disease
Subtype of frontal lobe dementia, characterized by language abnormalities such as logorrhea, echolalia, and palilalia (compulsive repetition of phrases), with Pick bodies; occurs 1-5% as often as Alzheimer's disease.
Pickwickian syndrome
Obesity hypoventilation syndrome defined by extreme obesity and alveolar hypoventilation during wakefulness, characterized by hypersomnolence, dyspnea, hypoxemia (cyanosis, polycythemia, and plethora), and pulmonary hypertension leading to RV failure and edema; based upon Charles Dickens' book The Posthumous Papers of the Pickwick Club and the character Joe who was a "wonderfully fat boy, standing upright with his eyes closed."
Pierre Robin syndrome
Micrognathia and abnormal smallness of the tongue, often with cleft palate, severe myopia, congenital glaucoma, and retinal detachment; described by French dental surgeon Pierre Robin, 1867-1950.
pink disease
Acrodynia, occurs from exposure to high concentrations of mercury vapor, characterized by a body rash, swelling and irritation of palms and feet followed by skin desquamation, irritability, photophobia, fever, insomnia and profuse sweating. May also follow oral exposure to mercury compounds.
Piper forceps
Forceps with a perineal curve to facilitate breech delivery.
Pisa syndrome
Pleurothotonus, rare side-effect of classic neuroleptic medication, characterized by dystonia with flexion of body and head to one side and axial rotation of the trunk; has been seen in cholinesterase inhibitors as well; originally described in 1972. After leaning tower of Pisa.
Piskacek's sign
Early sign of pregnancy where there is asymmetry of the uterus with a well-defined soft prominence of the cornu, due to implantation near one of the cornua; also known as von Braun-Fernwald's sign.
Pittsburgh pneumonia agent
Legionella micdadei.
Plummer's disease
Toxic multinodular goiter.
Plummer's nail
Onycholysis as a sign of hyperthyroidism, especially when it affects the ring finger.
Plummer-Vinson syndrome
Classic triad of dysphagia, iron deficiency anemia, and esophageal webs. Associated with atrophic glossitis and koilonychia. Associated with increased risk of squamous cell cancer of the pharynx and esophagus. Also known as Patterson-Brown-Kelly syndrome.
POEMS syndrome
Polyneuropathy, Organomegaly, Endocrinopathy, M protein, and Skin changes which may be seen in plasma cell dyscrasias; also known as Crow-Fukase syndrome in Japan.
Pohl-Pinkus constriction
Along hair shaft, area of decreased diameter, usually due to systemic stress, e.g. from chemotherapy, resulting in vulnerability to breaks. First described by Pohl in 1894, who later apparently changed his name to Pinkus. See also Beau's lines.
Poiseuille's law
Flow proportional to fourth power of radius, inversely proportional to length.
Poland syndrome
Amastia associated with hypoplasia of ipsilateral musculature (microsyndactyly or lack of one hand) and chest wall (atrophy of the ipsilateral pectoralis major) and GU abnormalities; 10% have dextrocardia or dextroversion.
Polle syndrome
Munchausen's syndrome by proxy; after daughter Polle from second marriage of Munchausen to 17 y.o. Bernhardine at age 74, daughter died 1 year later (though paternity apparently suspect) (Lancet 1977;2:456); but daughter Polle apparently doesn't exist but name of town where Bernhardine came from (Pediatrics 1984;74:554).
Pompe's disease
Type II glycogen storage disease, deficiency in alpha-1,4-glucosidase (lysosomal enzyme) with consequent accumulation of glycogen, especially in the liver, heart, and skeletal muscle, characterized by cardiomegaly, muscle hypotonia, and splenomegaly, death from cardiorespiratory failure before age 3.
Poncet's disease
In acute tuberculosis infection, aseptic inflammatory polyarthritis.
Pontiac fever
Nonpneumonic legionellosis. Named after July 1968 outbreak in Pontiac, Michigan.
Porter-Silber test
Measurement of urinary 17-OH corticosteroid.
Posner-Schlossman syndrome
Glaucomatocyclitic crisis; recurrent episodes of markedly elevated intraocular pressure with mild idiopathic anterior chamber inflammation.
Potocki-Lupski syndrome
Syndrome characterized by mild mental retardation, attention-deficit, hyperactivity, and autism, short stature, and dental abnormalities such as malocclusion and crowded teeth. Associated with duplication of 17p11.2. Compare with Smith-Magenis syndrome, which is associated with deletino of 17p11.2.
Potter's sequence
From oligohydramnios (from e.g. renal agenesis, amniotic leak) leading to amnion nodosum, fetal compression which leads to pulmonary hypoplasia, altered facies, positioning defects of feet, hands, and breech presentation.
Pott's disease
Involvement of the spine with tuberculosis; occurs in about 2% of TB cases.
Pott's fracture
Fracture of distal fibula.
Pott's puffy tumors
Extension of frontal sinusitis anteriorly into frontal bone causing a distinct swelling.
Potts shunt
For treating tetralogy of Fallot, anastomosis of direct descending aorta to left pulmonary artery; now rarely performed.
Poupart's ligament
Inguinal ligament.
Prader-Willi syndrome
Deletion of 15q11-q13 with paternal imprinting. Characterized by uncontrollable hyperphagia after 12 months, associated with short stature, hypogonadism, and mild mental retardation.
Pratt's sign
In deep vein thrombosis, presence of three dilated veins or sentinel veins over the tibia; dilatation persists when legs are elevated to 45 degrees.
Prausnitz-Küstner reaction
Passive transfer of cutaneous anaphylaxis; transferring serum of affected patient intradermally into a recipient and then challenging recipient with antigen 24 hours later at the same site and checking for wheal and flare; known since 1920s.
Prehn's sign
Elevation of painful testicle decreases pain of epididymitis.
Preiser disease
Spontaneous, non-traumatic osteonecrosis of the scaphoid bone.
Pregerson's Sign
- Subpatellar bulge with kness flexed
- Associated with Knee effusion
Pringle maneuver
Clamping of porta hepatis to control hemorrhage.
Prinzmetal's angina
Variant angina occurring at rest, manifesting on EKG as episodic ST segment elevations, caused by coronary artery spasms with or without superimposed coronary artery disease; patients more likely to develop ventricular arrhythmias.
Probst bundle
Callosal longitudinal bundle, seen in agenesis of the corpus callosum from fibers from the hemispheres failing to cross the midline and instead forming thick bundles.
Proteus syndrome
Congenital condition characterized by generalized, unilateral, or localized overgrowth of any tissue type, hemihypertrophy, lymphangiomas, lipomas, hemangiomata macrocephaly; thought that Joseph Merrick, the "Elephant Man" may have had this condition rather than neurofibromatosis; associated with mutation in PTEN. Named after Greek sea-god, Proteus, who could change his appearance.
Psammoma bodies
Round collection of calcium seen in papillary thyroid cancer, renal cell carcinoma, etc.; from the Greek for "sand."
Psoas Sign
Pain elicited by extending the hip with the knee in full extension, seen with appendicitis and psoas inflammation.
Puestow procedure
For chronic pancreatitis, side-to-side anastomosis of the pancreas and jejunum for decompressing dilated main pancreatic duct and providing pain relief.
Pulfrich phenomenon
Misperception of trajectory of moving objects (an optical illusion that can be elicited in normal subjects), can be associated with optic neuritis.
Purkinje cells
Neurons in the cerebellar cortex that secrete GABA; some of the largest cells in the brain.
Purtilo's syndrome
X-linked lymphoproliferative syndrome, more commonly known as Duncan's disease.
Purtscher's angiopathic retinopathy
In acute pancreatitis, sudden and severe loss of vision due to posterior retinal artery occlusion with aggregated granulocytes; discrete flame-shaped hemorrhages with cotton-wool spots; also seen in fat embolization. First described in 1919 by Othmar Purtscher.
Pyle's disease
Metaphyseal dysplasia, few clinical associations other than genu valgum despite bizarre radiographic findings (e.g. marked thickening of ribs, clavicles, Erlenmeyer flask-like flare of femur). Autosomal recessive.