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ãÔÇåÏÉ ÇáäÓÎÉ ßÇãáÉ : syndromes áÍÈÇíÈäÇ ÇáÏßÇÊÑÉ



ÃÈæ ÇáãÚÇØì ÔãÑæÎ
17-02-2007, 02:35 PM
Addison’s Disease primary adrenocortical deficiency; cortisol, aldosterone

Addisonian Anemia pernicious anemia (antibodies to intrinsic factor or parietal cells  IF  Vit B12  megaloblastic anemia)

Albright’s Syndrome polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls

Alport’s Syndrome hereditary nephritis with nerve deafness

Alzheimer’s progressive dementia

Argyll-Robertson Pupil loss of light reflex constriction (contralateral or bilateral)
“Prostitute’s Eye” - accommodates but does not react
Pathognomonic for 3Syphilis

Arnold-Chiari Malformation cerebellar tonsil herniation

Barrett’s adenocarcinoma columnar metaplasia of lower esophagus (* risk of adenocarcinoma)


Bartter’s Syndrome hyperreninemia

Becker’s Muscular Dystrophy similar to Duchenne, but less severe (deficiency in dystrophin protein)

Bell’s Palsy CNVII palsy (entire face; recall that UMN lesion only affects lower face)

Berger’s Disease IgA nephropathy

Bernard-Soulier Disease defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)

Berry Aneurysm circle of Willis (subarachnoid bleed)
often associated with ADPKD

Bowen’s Disease carcinoma in situ on shaft of penis (* risk of visceral ca)


Boerhaave's syndrome complete rupture of the esophagus

Briquet’s Syndrome somatization disorder
psychological: multiple physical complaints without physical pathology

Broca’s Aphasia Motor Aphasia intact comprehension

Brown-Sequard hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)

Bruton’s Disease X-linked agammaglobinemia

Budd-Chiari post-hepatic venous thrombosis

Buerger’s Disease acute inflammation of small, medium arteries * painful ischemia * gangrene


Burkitt’s Lymphoma small noncleaved cell lymphoma EBV
8:14 translocation

Caisson Disease gas emboli

Chagas’ Disease Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia

Chediak-Higashi Disease Primary defect is in assembly of microtubules.
Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy w repeated infections

Conn’s Syndrome primary hyperaldosteronism

Cori’s Disease glycogen storage disease (debranching enzyme deficiency)

Creutzfeldt-Jakob prion infection * cerebellar & cerebral degeneration


Crigler-Najjar Syndrome congenital hyperbilirubinemia (unconjugated)
glucuronyl transferase deficiency

Crohn’s IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, * colon cancer risk)


Curling’s Ulcer acute gastric ulcer associated with severe burns

Cushing’s Disease: hypercorticism 2* to * ACTH from pituitary (basophilic adenoma)
Syndrome: hypercorticism of all other causes (1* adrenal or ectopic ACTH or ectopic cortisol)


Cushing’s Ulcer acute gastric ulcer associated with CNS trauma

de Quervain’s Thyroiditis self-limiting focal destruction (subacute thyroiditis)

DiGeorge’s Syndrome thymic hypoplasia * T-cell deficiency
hypoparathyroidism

Down’s Syndrome trisomy 21 or translocation

Dressler’s Syndrome Post-MI Fibrinous Pericarditis autoimmune

Dubin-Johnson Syndrome congenital hyperbilirubinemia (conjugated)
striking brown-to-black discoloration of the liver

Duchenne Muscular Dystrophy deficiency of dystrophin protein * MD X-linked recessive


Edwards’ Syndrome trisomy 18
rocker-bottom feet, low ears, heart disease

Ehler’s-Danlos defective collagen

Eisenmenger’s Complex late cyanotic shunt (RL) pulmonary HTN & RVH 2 to long-standing VSD, ASD, or PDA

Erb-Duchenne Palsy trauma to superior trunk of brachial plexus Waiter’s Tip

Ewing Sarcoma undifferentiated round cell tumor of bone

Euthyroid sick syndrome Circulating T3 decrease while rT3 increases . Type I 5' deiodinase is inhibited by metabolic shock. Type II 5' monodeiodinase still functions so the hypothalamic feeedback mechanism doesn't see the problem.

Eyrthroplasia of Queyrat carcinoma in situ on glans penis

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 benign congenital hyperbilirubinemia (unconjugated)

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; #1 cause of 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 homo***ual men)

Kartagener’s Syndrome immotile cilia 2 to defective dynein arms infection, situs inversus, sterility

Kawasaki Disease mucocutaneous lymph node syndrome (lips, oral mucosa)

Klinefelter’s Syndrome 47, XXY

Kluver-Bucy bilateral lesions of amygdala (hyper***uality; 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

Libman-Sacks endocarditis with small vegetations on valve leaflets
associated with SLE

Lou Gehrig’s Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons

Lynch syndrome autosomal dominant familial colorectal CA
Mallory-Weis Syndrome bleeding from esophagogastric lacerations 2* to wretching (alcoholics)


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

MEN IIa medullary CA of thyroid, primary hyperparathyroidism, pheochromacytoma

MEN IIb medullary CA of thyroid, mucosal neuroma of lips, pheochromacytoma

Menetrier’s Disease giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

Methemoglobinemia chocolate brown blood cyanosis unresponsive to oxygen therapy. Give methylene blue.

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


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


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

Sezary Syndrome leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)

Shaver’s Disease aluminum inhalation  lung fibrosis

Sheehan’s Syndrome postpartum pituitary necrosis

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

Spherocytosis Defect of spectrin resulting in spherical RBCs
results in hemolytic anemias

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 ÊVSD, Ëoverriding aorta, Ìpulmonary artery stenosis, Íright ventricular hypertrophy


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 & café 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



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Ebrahim
17-02-2007, 06:19 PM
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very much !!
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ãÕÈÇÍ
17-02-2007, 06:23 PM
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ÃÈæ ÇáãÚÇØì ÔãÑæÎ
17-02-2007, 07:39 PM
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ãÕÈÇÍ
18-02-2007, 12:44 AM
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ãÑãæÑÉ
23-02-2007, 10:05 PM
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kalamntena
18-08-2007, 12:11 AM
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