4/15/2018 A-Z Diseases List for NEET PG - DoctorsHangout.

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A-Z Diseases List for NEET PG

Addison's Disease primary adrenocortical deficiency
Addisonian Anemia pernicious anemia
Aide?s tonic pupil LARGE pupil. rare, always benign. Fails to constrict to both accommodation &
light. After a prolonged attempt it eventually constricts but sluggishly. Pupil redilates slowly (tonic).
Albright's Syndrome pseudohypoparathyroidism
Resistance to PTH. Hypocalemia & hyperphosphatemia + increased PTH (negative feedback).

Manifestations in the genetic type (Ia): Subcutaneous ossifications, brachydactyly, obesity, round
facies, and short stature.

Alport's Syndrome X-linked hereditary nephritis with nerve deafness

hematuria, family history of males progressing to end stage renal disease. Details

Alzheimer's progressive dementia. Details

Argyll-Robertson Pupil small pupil. Loss of light reflex. Mnemonic
Arnold-Chiari Malformation herniation of the cerebellar tonsils
Barrett's esophagus columnar metaplasia of the esophagus due to chronic reflux esophagitis
(precancerous)
Bartter's Syndrome hyperreninemia
Becker's Muscular Dystrophy more benign than Duchenne muscular dystrophy (pseudohypertrophy),
appears in the 20s and 30s, no skeletal or heart abnormalities (deficiency in dystrophin protein)
Bell's Palsy (Facial palsy)
Inflammatory swelling of the facial nerve in the facial canal of the middle ear, leading in severe cases
to an acute compression neuropathy. Details

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Berger's Disease IgA nephropathy. Details

Berry Aneurysm aneurysm of the circle of Willis (common cause of subarachnoid hemorrhage)
Broca's Aphasia Motor Aphasia
Brown-Sequard hemisection of spinal cord
contralateral loss of pain & temperature

ipsilateral LMN lesion & loss of sensation at the level of the lesion.

ispilateral hemiplegia, deep sensory loss below the level of the lesion.

Bruton's Disease X-linked agammaglobinemia

Budd-Chiari thrombosis of the hepatic veins. Details
Buerger's Disease acute inflammation of small, arteries & veins with perivascular fibrosis which
blends artery, vein & nerve into one mass. Occurs in smokers 95% are males.
painful ischemia progressing to gangrene.

Burkitt's Lymphoma High grade non-Hodgkin's lymphoma. Common in children, rare in adults.
Endemic in Africa.
Caisson Disease Gas emboli due rapid decompression (diving).
Chagas' Disease (American Trypansomiasis) infection with protozoan parasite Trypanosoma cruzi.
Leads to heart affection progressing to heart failure, achlasia and megacolon. Details
Conn's Syndrome primary hyperaldosteronism. Details
Creutzfeldt-Jakob prion disease (Mad Cow disease in cows) is a slow virus infection of the CNS
leading to cerebral degeneration (progressive dementia). Details
Crigler-Najjar Syndrome Congenital neonatal jaundice
Type I (Autosomal recessive - no glocuronyl transferase - leads to kernicterus)

Type II (Autosomal dominant - diminished glocuronyl transferase).

Unconjugated. Details

Crohn's disease Inflammatory bowel disease:

Deep with lymphocytic infiltrate

Skip lesions hence cobble stone appearance

Most commonly found in the terminal ileum. Can affect any area from mouth to anus. Details

Curling's Ulcer Stress gastritis - associated with major trauma, burns, sepsis, shock.
Cushing's Syndrome Hypercorticism. Details
Cushing's Ulcer acute gastritis associated with intracranial lesions
de Quervain's Thyroiditis Subacute viral thyroiditis. Transient hyperthyroidism --> hypothyroidism -->
normal.
Exquisitely tender and woody hard and moderately enlarged. Details

DiGeorge's Syndrome dysmorphogenesis of the third and fourth pharyngeal pouches, leading to
hypoplasia or aplasia of the thymus and parathyroid glands --> T-cell deficiency &
hypoparathyroidism
Down's Syndrome Trisomy 21
Dressler's Syndrome Autoimmune pericarditis following myocardial infarction. Rare.
Dubin-Johnson Syndrome congenital hyperbilirubinemia
Autosomal recessive appears at any age. Defect in bilirubin excretion (conjugated). Liver biopsy
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shows melanin deposition.

Duchenne Muscular Dystrophy (pseudohypertrophy), appears early, skeletal or heart abnormalities are
common (deficiency in dystrophin protein).
Edwards' Syndrome Trisomy 18
Ehlers-Danlos Syndrome defective collagen. Details
Eisenmenger's Complex reversing of left to right shunt in patients with ASD, VSD, patent ductus
arteriosus resulting in cyanosis. Details
Erb-Duchenne Palsy trauma to superior trunk of brachial plexus Waiter's Tip
Ewing Sarcoma undifferentiated round cell tumor of bone.
Eyrthroplasia of Queyrat carcinoma in situ on glans penis
Fabry's Disease Rare, inherited disease in which lack of alpha-galactosidase causes lipid deposition in
the organs leading to organ failure.
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 congenital hyperbilirubinemia

defect in glocuronidation & hepatic uptake of bilirubin. Bilirubin increases by fasting &
phenobarbitone (unconjugated).

Appears in young adults, prognosis is excellent.

Glanzmann's Thrombasthenia defective glycoproteins on platelets

Goodpasture's autoimmune: ab's to glomerular & alveolar basement membranes
Grave's Disease autoimmune hyperthyroidism (TSI). Details
Guillain-Barre idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting).
Details
Hamman-Rich Syndrome idiopathic pulmonary fibrosis
Hand-Schuller-Christian chronic progressive histiocytosis
Hashimoto's Thyroiditis autoimmune hypothyroidism. Details
Hashitoxicosis initial hyperthyroidism in Hashimoto's Thyroiditis that precedes hypothyroidism.
Details
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 homosexual men)
Kartagener's Syndrome Autosomal Recessive. Defect in dynein arms leading to immotile cilia this in
turn leads to sterility and is associated with situs inversus
Kawasaki Disease mucocutaneous lymph node syndrome (lips, oral mucosa)
Klinefelter's Syndrome 47, XXY
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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

Levine sign Clenched fist over the sternum is a telling feature of cardiac pain.
Libman-Sacks endocarditis with small vegetations on valve leaflets
associated with SLE

Li-Fraumeni syndrome Autosomal dominant cancer predisposition syndrome, with multiple cancers in
an individual and their family. Details
Lou Gehrig's Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons. Details
Mallory-Weis Syndrome bleeding from esophagogastric lacerations 2? to wretching (alcoholics)
Marcus-Gunn Pupil (Afferent pupillary defect) here repeated swinging of light from one eye to the
other shows constriction of both eyes and dilatation of the affected eye.
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

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
"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
Parinaud's syndrome preauricular lymph node enlargement on the same side as conjunctivitis.
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
Ramsay-Hunt's Syndrome Varicella Zoster infection of the geniculate ganglion. This results in
unilateral lower motor neuron lesions of the facial nerve.
Raynaud's Disease: recurrent vasospasm in extremities
Phenomenon: 2? to underlying disease (SLE or scleroderma)

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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

Schatzki's ring Lower esophageal ring at the junction between squamous and columnar epithelium
causing dysphagia to solids & liquids every 3-4 months after a bolus of meat or bread.
Sezary Syndrome leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Shaver's Disease aluminum inhalation ----> lung fibrosis
Sheehan's Syndrome postpartum pituitary necrosis
Schilling's test used to diagnose pernicious anemia
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
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 VSD, overriding aorta, pulmonary artery stenosis, right ventricular hypertrophy
Tietze's syndrome self limiting costochondritis characterized by chest pain associated with tenderness.
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 & caf?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)
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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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