الملف الشخصي
مشاهدة مشاركات المنتدى
رسالة خاصة
زيارة الصفحة الرئيسية
Paths Summary ملخص موجز لبعض الأمراض
Addison’s Disease
Primary adrenocortical deficiency
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
Lesion pretectal region of superior colliculus
Arnold-Chiari Malformation
Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
Barrett’s
Columnar metaplasia of lower esophagus (* risk of adenocarcinoma)- constant gastroesophageal reflux
Bartter’s Syndrome
Hyperreninemia
Becker’s Muscular Dystrophy
Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)
Bell’s Palsy
CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Berger’s Disease
IgA nephropathy causing hematuria in kids, usually following infection
Bernard-Soulier Disease
Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Berry Aneurysm
Circle of Willis (subarachnoid bleed) Anterior Communicating artery
Often associated with ADPKD
Bowen’s Disease
Carcinoma in situ on shaft of penis (* risk of visceral ca) [compare w/ Queyrat]
Brill-Zinsser Disease
Recurrences of rickettsia prowazaki up to 50 yrs later
Briquet’s Syndrome
Somatization disorder
Psychological: multiple physical complaints without physical pathology
Broca’s Aphasia
Motor Aphasia (area 44 & 45) intact comprehension
Brown-Sequard
Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)
Bruton’s Disease
X-linked agammaglobinemia (¯ B cells)
Budd-Chiari
Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure
Buerger’s Disease
Acute inflammation of medium and small arteries of extremities ® painful ischemia ® gangrene
Seen almost exclusively in young and middle-aged men who smoke.
Burkitt’s Lymphoma
Small noncleaved cell lymphoma EBV
8:14 translocation
Seen commonly in jaws, abdomen, retroperitoneal soft tissues
Starry sky appearance
Caisson Disease
Nitric gas emboli
Chagas’ Disease
Trypansoma infection - cardiomegaly with apical atrophy, achlasia
Chediak-Higashi Disease
(AR) Phagocyte Deficiency = defect in microtubule polymerization
Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph
Conn’s Syndrome
Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ¯ renin
Cori’s Disease
Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. * Glycogen)
Creutzfeldt-Jakob
Prion infection ® cerebellar & cerebral degeneration
Crigler-Najjar Syndrome
Congenital hyperbilirubinemia (unconjugated)
Glucuronyl transferase deficiency. Can progress to Kernicterus
Less severe form will respond to Phenobarbital therapy
Crohn’s
IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, * colon cancer risk)
Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures
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)
- moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia
Cushing’s Ulcer
Acute gastric ulcer associated with CNS trauma
de Quervain’s Thyroiditis
Self-limiting focal destruction (subacute thyroiditis)
DiGeorge’s Syndrome
Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
Thymic hypoplasia ® T-cell deficiency
Hypoparathyroidism à Tetany
Down’s Syndrome
Trisomy 21 or translocation – Simian Crease
Dressler’s Syndrome
Post-MI Fibrinous Pericarditis autoimmune
Dubin-Johnson Syndrome
Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
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, small lower jaw, 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
Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22
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
AD = adenomatous polyps of colon, osteomas & soft tissue tumors
Gaucher’s Disease
Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
Hepatosplenomegaly, femoral head & long bone erosion, anemia
Gilbert’s Syndrome
Benign congenital hyperbilirubinemia (unconjugated) = ¯d glucuronyl transferase activity
Glanzmann’s Thrombasthenia
Defective glycoproteins on platelets = deficient platelet aggregation
Goodpasture’s
Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s
Grave’s Disease
Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4
Guillain-Barre
Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
Hamman-Rich Syndrome
Idiopathic pulmonary fibrosis. Can see honey comb lung.
Hand-Schuller-Christian
Chronic progressive histiocytosis
Hashimoto’s Thyroiditis
Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
Hashitoxicosis
Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Henoch-Schonlein purpura
Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
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 (Chromosome 4)
AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ¯ GABA
Jacksonian Seizures
Epileptic events originating in the primary motor cortex (area 4)
Job’s Syndrome
Immune deficiency: neutrophils fail to respond to chemotactic stimuli
Defective neutrophilic chemotactic response = repeated infections
Commonly seen in light-skinned, red-haired girls
*’d IgE levels
Kaposi Sarcoma
Malignant vascular tumor (HHV8 in homosexual men)
Kartagener’s Syndrome
Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility
Kawasaki Disease
Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
Klinefelter’s Syndrome
47, XXY: Long arms, Sterile, Hypogonadism
Kluver-Bucy
Bilateral lesions of amygdala (hypersexuality; 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
Mallory-Weis Syndrome
Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Marfan’s
Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses
McArdle’s Disease
Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = * Glycogen)
Meckel’s Diverticulum
Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk
Meig’s Syndrome
Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries
Menetrier’s Disease
Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
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 – sphingomyelin accumulation)
“Foamy histiocytes”
Osler-Weber-Rendu Syndrome
Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.
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 (AD)
Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
Peyronie’s Disease
Subcutaneous fibrosis of dorsum of penis
Pick’s Disease – 2 Different Diseases -
1. Progressive dementia similar to Alzheimer’s
1. Constrictive pericarditis – sequel to mediastinal tuberculosis
Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole
Plummer’s Syndrome
Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
Plummer-Vinson
Esophageal webs & iron-deficiency anemia, spoon-shaped nails, * SCCA of esophagus
Pompe’s Disease
Type II Glycogenosis – Glycogen storage disease ® cardiomegaly (a 1,4 Glucosidase deficiency: * Glycogen)
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 = seen in young, healthy women
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, especially VZV
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 = hemorrhage & shock usually occurred during delivery
Shy-Drager
Parkinsonism with autonomic dysfunction & orthostatic hypotension
Simmond’s Disease
Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s
Sipple’s Syndrome
MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism
Sjogren’s Syndrome
Triad: dry eyes, dry mouth, arthritis * risk of B-cell lymphoma
Spitz Nevus
Juvenile melanoma (always benign)
Stein-Leventhal
Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = **LH secretion
Stevens-Johnson Syndrome
Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma 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 = pulseless disease. Night sweats.
Common in young Asian females
Tay-Sachs (AR)
Gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside) Cherry Red Spots of the Macula
Tetralogy of Fallot
1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy
Tourette’s Syndrome
Involuntary actions, both motor and vocal Txt w/ Pimozide
Turcot’s Syndrome
Colon adenomatous polyps plus CNS tumors
Turner’s Syndrome
45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
Vincent’s Infection
“Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium
Von Gierke’s Disease
Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton
Von Hippel-Lindau
Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
Adenomas of the viscera, especially * Renal Cell Carcinoma
Chromosome 3p
Von Recklinghausen’s
Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)
Von Recklinghausen’s Disease of Bone
Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/
fibrous replacement
Von Willebrand’s Disease (AD)
Defect in platelet adhesion 2° to deficiency in vWF. *aPPT, * Bleed time
Waldenstrom’s macroglobinemia
Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies
Wallenberg’s Syndrome
Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp
Waterhouse-Friderichsen
Adrenal insufficiency 2° to DIC
DIC 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
Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis
Dark field microscopy for dx
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 (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)
Whipple’s Disease
Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
Wilson’s Disease
Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
Chromosome 13
Wiskott-Aldrich Syndrome
Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
¯ IgM w/ * IgA
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 ® recurrent ulcers
Roger’s Disease
Interventricular septal defect
Barlow’s Syndrome
Floppy vale syndrome – women b/t 20-40 yoa
Bracht-Wachter Lesions
Minute abscesses found in subacute bacterial endocarditis
Lutembacher’s Syndrome
Combination of septum secundum atrial septal defect w/ mitral stenosis
Schmidt’s Syndrome
Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes
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