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.
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 |
