SYNDROMES (this is 5% of the exam)

[Anonymous]

SYNDROMES

ENVIRONMENTAL CAUSES
• ACUTE RADIATION SYNDROME: Radiation
exposure.
o 12 hours post-exposure: Vomiting
o 24 hours post-exposure: Prostration (extreme
exhaustion), fever, diarrhea
o 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:
o Loss of pain and temperature sensation on
contralateral side of body.
o 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 ------>
o Hip, thigh, and calf fatigue.
o Impotence
• BEHCET'S SYNDROME: Vasculitis ------>
secondary symptoms:
o Oral and genital ulcers
o Uveitis
o 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 ------>
o Edema
o Engorgement of the vessels of face,
neck, and arms.
o Nonproductive cough
o 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.
o Short PR interval
o Delta wave = early QRS complex.
IATROGENIC (or Secondary to Medical Treatment)
• AFFERENT LOOP SYNDROME:
Gastrojejunal loop obstruction, proximal to a
gastrojejunostomy.
o Ingestion of food produces nausea, pain,
and duodenal distension.
• ASHERMAN'S SYNDROME: Adhesions
within the endometrial cavity, causing
amenorrhea and infertility.
o Adhesions probably were caused by
surgery.
• ULYSSES SYNDROME: Ill effects from
follow-up diagnostic tests following a falsepositive
screening test.
NEOPLASTIC (Malignant or Benign)
• CARCINOID SYNDROME: Carcinoid tumor
producing Bradykinin + Serotonin ------>
secondary symptoms:
o Cyanotic flushing
o Diarrhea
o Bronchial spasm
o Edema, ascites.
• CRONKHITE-CANADA SYNDROME: GIPolyps
with diffuse alopecia (hair-loss) and nail
dystrophy.
o May see protein-losing enteropathy and
malabsorption.
• GARDNER'S SYNDROME: Multiple
inherited tumors, hereditary dominant trait.
o Skull osteomas, Fibromas, Epidermoid
cysts
o 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 ------>
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o Neuritic pain of chest and arm
o Muscle atrophy of the arm
o Horner's Syndrome (impaired cervical
sympathetics)
• PEUTZ-JEGHERS SYNDROME: Polyposis
(hamartomas) of small intestine
o 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:
o No cell-mediated immunity ------> Frequent
viral and fungal infections
o 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.
o Hyper-elasticity and friability of the skin.
o 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).
o Often, death by renal failure
• KLINEFELTER'S SYNDROME: Trisomy XXY ---
---> testicular atrophy, increase in gonadotropins in
urine.
• KLIPPEL-FEIL SYNDROME:
o Cervical vertebrate fused
o Congenital short neck, limited neck rotation
o Abnormalities of the brainstem and
cerebellum
o Low hairline.
• LESCH-NYHAN SYNDROME: Deficiency of
HGPRT (Hypoxanthine-Guanine Phosphoribosyltransferase
------>
o Hyperuricemia, uric acid kidney stones
o Choreoathetosis
o Mental retardation, autism, spastic
cerebral palsy
o X-Linked recessive
• MARFAN SYNDROME: Connective Tissue
disorder ------>
o Arachnodactyly: Abnormally long
digits and extremities
o Subluxation of lens
o Dissecting aortic aneurism
• POSTRUBELLA SYNDROME: Infantile
defects resulting from maternal Rubella infection
during first trimester.
o Microphthalmos, cataracts
o Deafness
o Mental retardation
o 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.
o Dwarfism
o Webbed neck
o Valgus of elbow.
o 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:
o Fatness of face and trunk with wasting
of extremities
o Buffalo hump
o Bone decalacification
o Corticoid diabetes
o Hypertension
• PREMENSTRUAL SYNDROME: Abnormal
sensation in breasts, abdominal pain, thirst,
headache, pelvic congestion, nervous irritability.
o Ocassionally nausea and vomiting.
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• 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
o 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.
o 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 postchlamydial.
o Urethritis
o Iridocyclitis (Conjunctivitis)
o Arthritis
o Skin lesions like karatoderma
blenorrhagicum
o Also can see fatty liver or liver necrosis.
• SCALDED SKIN SYNDROME: S. Aureus toxic
epidermal necrolysis.
• *******-JOHNSON SYNDROME: Erythema
Multiforme complication.
o Large areas of skin slough, including mouth
and anogenital membranes.
o Mucous membranes: stomatitis, urethritis,
conjunctivitis.
o Headache, fever, malaise.
• TOXIC SHOCK SYNDROME: Caused by
superabsorbent tampons. Infection with Staph
Aureus and subsequent toxicity of exotoxin
TSST ------> systemic anaphylaxis.
o Fever, vomiting, diarrhea
o Red rash followed by desquamation
• WATERHOUSE-FRIEDRICHSON
SYNDROME: Meningeococcal Meningitis ------
> DIC, hemorrhagic infarct of adrenal glands ----
--> fulminant adrenal failure.
o Vomiting, diarrhea.
o Shock
o Extensive purpura, cyanosis, circulatory
collapse.
RENAL
• KEMMELSTIEL-WILSON SYNDROME:
Diabetic Glomerulosclerosis.
• BARTTER'S SYNDROME: Juxtaglomerular
Cell Hyperplasia ------> secondary symptoms:
o Hyperaldosteronism, Hypokalemic
Alkalosis, elevated renin and
angiotensin
o No hypertension.
o 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:
o Finger agnosia, Agraphia, acalculia
o Right-left disorientation
• HORNER'S SYNDROME: Loss or lesion of
cervical sympathetic ganglion ------>
o Ptosis, miosis, anhydrosis
o Enophthalmos (caved in eyes)
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• 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: Gastrinsecreting
tumor in pancreas ------> Severe peptic
ulcers, gastric hyperacidity.
• PLUMMER-VINSON SYNDROME: Esophageal
Webs, leading to dysphagis and atrophy of papillae of
tongue.
o 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:
o ACUTE: Hepatic Vein Thrombosis ------>
Massive ascites and dramatic death.
o 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:
o Liver cirrhosis
o Caput Medussae
o 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.
o Found in Lymphedema, bronchitis,
chronic bronchiectasis.
• COSTOCHONDRAL SYNDROME: Pain in
chest with tenderness over one or more
costochondral junctions.
o 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:
o Sarcoidosis
o Tuberculosis
o Leukemia
• MUNCHAUSEN SYNDROME: Malingering -
- fabrication of a clinically convincing disease by
an itinerant malingerer.
• PICKWICKIAN SYNDROME: Symptom
cluster
o Obesity
o Hypoventilation
o Somnolence
o 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 ------>
o Straight spine
o Ejection murmur
o Widened cardiac silouhette on x-ray
• SJÖGREN'S SYNDROME: Autoimmune
complex
o Keratoconjuctivitis Sicca (dry eyes and
mouth)
o Dryness of Mucous membranes
o Telangiectasias in face
o Parotid enlargement