Listed below are some of the illnesses we can supply staff for. This list is from the BMA and is not a complete list by any mean. It is just a representation to show the different types of syndromes we can help supply staff for. For more information, please speak to one of our team on 0330 555 5000.
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Listed below are some of the illnesses we can supply staff for. This list is from the BMA and is not a complete list by any mean. It is just a representation to show the different types of syndromes we can help supply staff for. For more information, please speak to one of our team on 0330 555 5000.
ENVIRONMENTAL CAUSES
- ACUTE RADIATION SYNDROME: Radiation exposure.
- 12 hours post-exposure: Vomiting
- 24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea
- Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea, maybe death.
- BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------> symptoms:
- Loss of pain and temperature sensation on contralateral side of body.
- Loss of proprioception and discriminatory touch on ipsilateral side of body.
CARDIOVASCULAR
- ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often accompanied by convulsions.
- BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve Prolapse ------> Late apical systolic murmur, systolic click, or both.
- EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension and cyanosis.
- LERICHE'S SYNDROME: Occlusion of distal aorta ------>
- Hip, thigh, and calf fatigue.
- Impotence
- BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:
- Oral and genital ulcers
- Uveitis
- Optic atrophy
- SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes occurring after Myocardial Infarction.
- SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves. Bradycardia, alternating with recurrent ectopic beats and runs of tachycardia.
- SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>
- Edema
- Engorgement of the vessels of face, neck, and arms.
- Nonproductive cough
- Dyspnea
- TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in young women.
- WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.
- Short PR interval
- Delta wave = early QRS complex.
IATROGENIC (or Secondary to Medical Treatment)
- AFFERENT LOOP SYNDROME: Gastrojejunal loop obstruction, proximal to a gastrojejunostomy.
- Ingestion of food produces nausea, pain, and duodenal distension.
- ASHERMAN'S SYNDROME: Adhesions within the endometrial cavity, causing amenorrhea and infertility.
- Adhesions probably were caused by surgery.
- ULYSSES SYNDROME: Ill effects from follow-up diagnostic tests following a false-positive screening test.
NEOPLASTIC (Malignant or Benign)
- CARCINOID SYNDROME: Carcinoid tumor producing Bradykinin + Serotonin ------> secondary symptoms:
- Cyanotic flushing
- Diarrhea
- Bronchial spasm
- Edema, ascites.
- CRONKHITE-CANADA SYNDROME: GI-Polyps with diffuse alopecia (hair-loss) and nail dystrophy.
- May see protein-losing enteropathy and malabsorption.
- GARDNER'S SYNDROME: Multiple inherited tumors, hereditary dominant trait.
- Skull osteomas, Fibromas, Epidermoid cysts
- Colonic polyposis (APC gene) ------> predisposition to colonic adenocarcinoma.
- LAMBERT-EATON SYNDROME: Progressive proximal muscle weakness secondary to a carcinoma.
- MEIGS' SYNDROME: Fibroma of ovary with ascites and hydrothorax
- PANCOAST SYNDROME: Tumor near pulmonary apex ------>
- Neuritic pain of chest and arm
- Muscle atrophy of the arm
- Horner's Syndrome (impaired cervical sympathetics)
- PEUTZ-JEGHERS SYNDROME: Polyposis (hamartomas) of small intestine
- Also see melanin pigmentation of buccal mucosa and skin around mouth and lips
CONGENITAL
- CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia
- CERVICAL SYNDROME: Supernumerary C7 rib ------> Pressure on brachial plexus ------> pain radiating over shoulder, arm, and forearm over C7 distribution.
- DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschka in infants ------> Hydrocephalus.
- DIGEORGE SYNDROME: Congenital absence of 3rd and 4th Branchial Arches (Thymus and Parathyroid Glands) ------> secondary symptoms:
- No cell-mediated immunity ------> Frequent viral and fungal infections
- Characteristic facial deformities
- DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon crease in hand.
- FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia ------> refractory anemia, pancytopenia.
- EHLERS-DANLOS SYNDROME: Congenital defect in collagen.
- Hyper-elasticity and friability of the skin.
- Hyperextensibility of the joints.
- FETAL ALCOHOL SYNDROME: Fetal malformations, growth deficiencies, craniofacial anomalies, limb defects.
- GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------> Glomerulonephritis (kidney) and hemoptysis (lungs).
- Often, death by renal failure
- KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in gonadotropins in urine.
- KLIPPEL-FEIL SYNDROME:
- Cervical vertebrate fused
- Congenital short neck, limited neck rotation
- Abnormalities of the brainstem and cerebellum
- Low hairline.
- LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phospho-ribosyltransferase ------>
- Hyperuricemia, uric acid kidney stones
- Choreoathetosis
- Mental retardation, autism, spastic cerebral palsy
- X-Linked recessive
- MARFAN SYNDROME: Connective Tissue disorder ------>
- Arachnodactyly: Abnormally long digits and extremities
- Subluxation of lens
- Dissecting aortic aneurism
- POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella infection during first trimester.
- Microphthalmos, cataracts
- Deafness
- Mental retardation
- Patent ductus arteriosis, Pulmonary arterial stenosis
- PRADER-WILLI SYNDROME: Short stature, mental retardation, polyphagia with marked obesity, sexual infantilism.
- RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.
- SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.
- TURNER'S SYNDROME: XO monosomy.
- Dwarfism
- Webbed neck
- Valgus of elbow.
- Amenorrhea
- WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper ------> mental retardation, cirrhosis, hepatolenticular degeneration.
ENDOCRINE, REPRODUCTIVE
- AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation, resulting from endocrinologic causes or from a pituitary disorder.
- CONN'S SYNDROME: Primary Hyperaldosteronism ------> muscular weakness, hypertension, hypokalemia, alkalosis.
- CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and characteristics:
- Fatness of face and trunk with wasting of extremities
- Buffalo hump
- Bone decalacification
- Corticoid diabetes
- Hypertension
- SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism.
- STEIN-LEVENTHAL SYNDROME: Polycystic ovary ------> infertility, amenorrhea, hirsutism. Seen in obese women.
- TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male Psuedohermaphroditism
- Complete female external genatalia, incompletely developed vagina, rudimentary uterus.
PULMONARY
- KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting from chronic sinusitis and bronchiectasis.
- HAMMAN-RICH SYNDROME: Interstitial fibrosis of the lung.
- MIDDLE-LOBE SYNDROME: Chronic pneumonitis and atalectasis of middle lobe of right lung.
- CHURG-STRAUSS SYNDROME: Allergic Granulomatous Angiitis: Asthma, fever, eosinophilia.
INFECTIOUS
- FITZ-HUGH-CURTIS SYNDROME: Gonococcal Periphepatitis in woman, as a complication of Gonorrhea.
- GUILLAIN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.
- HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and Geniculate Ganglion ------> facial palsy.
- Zoster of ear
- PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as conjunctivitis.
- REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection treated by aspirin.
- REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or post-chlamydial.
- Urethritis
- Iridocyclitis (Conjunctivitis)
- Arthritis
- Skin lesions like karatoderma blenorrhagicum
- Also can see fatty liver or liver necrosis.
- SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis.
- STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.
- Large areas of skin slough, including mouth and anogenital membranes.
- Mucous membranes: stomatitis, urethritis, conjunctivitis.
- Headache, fever, malaise.
- TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with Staph Aureus and subsequent toxicity of exotoxin TSST ------> systemic anaphylaxis.
- Fever, vomiting, diarrhea
- Red rash followed by desquamation
- WATERHOUSE-FRIEDRICHSON SYNDROME: Meningeococcal Meningitis ------> DIC, hemorrhagic infarct of adrenal glands ------> fulminant adrenal failure.
- Vomiting, diarrhea.
- Shock
- Extensive purpura, cyanosis, circulatory collapse.
RENAL
- KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis.
- BARTTER'S SYNDROME: Juxtaglomerular Cell Hyperplasia ------> secondary symptoms:
- Hyperaldosteronism, Hypokalemic Alkalosis, elevated renin and angiotensin
- No hypertension.
- Compare to Conn's Syndrome
- FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia, cysteine deposition, rickets.
- THORN'S SYNDROME: Salt-losing nephritis.
NEUROLOGICAL
- CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal Tunnel ------> pain and parasthesia over distribution of Median N.
- FROIN'S SYNDROME: Block in CSF flow ------> xanthochromia (yellow discoloration) of CSF.
- ACUTE-BRAIN SYNDROME: Delirium, confusion, disorientation, developing suddenly in a person that was previously psychologically normal.
- GERSTMANN'S SYNDROME: Lesion between occipital area and angular gyrus ------> symptoms:
- Finger agnosia, Agraphia, acalculia
- Right-left disorientation
- HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------>
- Ptosis, miosis, anhydrosis
- Enophthalmos (caved in eyes)
- KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused by degeneration of mamillary bodies.
- RILEY-DAY SYNDROME: Familial dysautonomia.
GASTROINTESTINAL
- MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting ------> hematemesis. Often seen in alcoholics.
- MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------> diarrhea, weakness, weight loss, or symptoms from specific deficiencies.
- BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of esophageal columnar epithelium ------> squamous epithelium.
- ZOLLINGER-ELLISON SYNDROME: Gastrin-secreting tumor in pancreas ------> Severe peptic ulcers, gastric hyperacidity.
- PLUMMER-VINSON SYNDROME: Esophageal Webs, leading to dysphagis and atrophy of papillae of tongue.
- Also see hypochromic anemia, splenomegaly.
RETICULOENDOTHELIAL, HEMATOLOGIC
- BANTI'S SYNDROME: Chronic Congestive Splenomegaly with anemia, caused by either Portal Hypertension or Splenic Vein Thrombosis.
- BUDD-CHIARI SYNDROME:
- ACUTE: Hepatic Vein Thrombosis ------> Massive ascites and dramatic death.
- CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema, ulimately death.
- DUBIN-JOHNSON SYNDROME: Defect in excretion of conjugated bilirubin ------> recurrent mild jaundice. Buildup of direct builirubin in blood.
- CHIDIAK-HIGASHI SYNDROME:Abnormalities in leukocytes with large inclusions.
- CRUVEILHIER-BAUMGARTEN SYNDROME: Symptoms cluster:
- Liver cirrhosis
- Caput Medussae
- Venous hum and thrill
- FELTY'S SYNDROME: Rheumatoid Arthritis with splenomegaly, leukopenia, anemia, and thrombocytopenia.
- LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs.
- PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as conjunctivitis.
UNCATEGORISED
- YELLOW-NAIL SYNDROME: Stop growth of nails ------> increased convexity, thickening, and yellowing of nails.
- Found in Lymphedema, bronchitis, chronic bronchiectasis.
- COSTOCHONDRAL SYNDROME: Pain in chest with tenderness over one or more costochondral junctions.
- Similar to Tietze's Syndrome but no specific inflammation.
- TIETZE'S SYNDROME: Costochondritis. Swelling and tenderness of the costal cartilege.
- MIKULICZ'S SYNDROME: Salivary and lacrimal enlargement as seen in several diseases:
- Sarcoidosis
- Tuberculosis
- Leukemia
- MUNCHAUSEN SYNDROME: Malingering -- fabrication of a clinically convincing disease by an itinerant malingerer.
- PICKWICKIAN SYNDROME: Symptom cluster
- Obesity
- Hypoventilation
- Somnolence
- Erythrocytosis
- RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep; twitch in legs causing insomnia.
- STRAIGHT BACK SYNDROME: Loss of normal kyphosis of thoracic spine ------>
- Straight spine
- Ejection murmur
- Widened cardiac silouhette on x-ray
- SJ?REN'S SYNDROME: Autoimmune complex
- Keratoconjuctivitis Sicca (dry eyes and mouth)
- Dryness of Mucous membranes
- Telangiectasias in face Parotid enlargement
| 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. |
| Alzheimer's | progressive dementia. |
| Argyll-Robertson Pupil | small pupil. Loss of light reflex. |
| 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. |
| Berger's Disease | IgA nephropathy. |
| 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. |
| 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. |
| Conn's Syndrome | primary hyperaldosteronism. |
| Creutzfeldt-Jakob | prion disease (Mad Cow disease in cows) is a slow virus infection of the CNS leading to cerebral degeneration (progressive dementia). |
| Crigler-Najjar Syndrome |
Congenital neonatal jaundice Type I (Autosomal recessive - no glocuronyl transferase - leads to kernicterus) Type II (Autosomal dominant - diminished glocuronyl transferase). |
| Crohn's 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. |
| Curling's Ulcer | Stress gastritis - associated with major trauma, burns, sepsis, shock. |
| Cushing's Syndrome | Hypercorticism. |
| Cushing's Ulcer | acute gastritis associated with intracranial lesions |
| de Quervain's Thyroiditis |
Subacute viral thyroiditis. Transient hyperthyroidism --> hypothyroidism --> normal. |
| 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. |
| Eisenmenger's Complex | reversing of left to right shunt in patients with ASD, VSD, patent ductus arteriosus resulting in cyanosis. |
| 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). |
| Guillain-Barre | idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting). |
| Hamman-Rich Syndrome | idiopathic pulmonary fibrosis |
| Hand-Schuller-Christian | chronic progressive histiocytosis |
| Hashimoto's Thyroiditis | autoimmune hypothyroidism. |
| Hashitoxicosis | initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism. |
| 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. |
| Lou Gehrig's | Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons. |
| 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 |



