SYNDROMES

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 3^rd and 4^th 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
• 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.

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