Saturday 16 November 2013

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.
GASTROINTESTINAL
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 ofbuccal 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 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 ------>
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.
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.
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
SJ0GREN'S SYNDROME: Autoimmune
complex
Keratoconjuctivitis Sicca (dry eyes
and mouth)
Dryness of Mucous membranes
Telangiectasias in face
Parotid enlargement

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