Tutorial II - SYNDROMES

GUNNER · 08:47 PM

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.
CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning sensation over parts of body.
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.
FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration of the leaflets.
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
PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst, headache, pelvic congestion, nervous irritability.
Ocassionally nausea and vomiting.
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.
GUILLAN-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.
BARRET SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of esophageal columnar epithelium ------> squamous epithelium.
ZOLLINGER-ELLISOHN 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.
BUD-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

UNCATEGORIZED

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
SJÖGREN'S SYNDROME: Autoimmune complex
Keratoconjuctivitis Sicca (dry eyes and mouth)
Dryness of Mucous membranes
Telangiectasias in face
Parotid enlargement