step 3 amnesia

Primary adrenocortical deficiency

Pernicious anemia (antibodies to intrinsic factor or parietal cells →↓ IF →↓ Vit B12 →megaloblastic anemia)

Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls

Hereditary nephritis with nerve deafness

Progressive dementia

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"

Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele

Columnar metaplasia of lower esophagus (↑ risk of adenocarcinoma)- constant gastroesophageal reflux

Hyperreninemia

Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)

CNVII palsy (entire face; recall that UMN lesion only affects lower face)

IgA nephropathy causing hematuria in kids, usually following infection

Defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)

Circle of Willis (subarachnoid bleed) Anterior Communicating artery. Often associated with ADPKD

Carcinoma in situ on shaft of penis (­ risk of visceral ca) [compare w/ Queyrat]

Recurrences of rickettsia prowazaki up to 50 yrs later

Somatization disorder
Psychological: multiple physical complaints without physical pathology

Motor Aphasia (area 44 & 45) intact comprehension

Hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN / ipsi loss of consc. Proprio)

X-linked agammaglobinemia (↓ B cells)

Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure

Acute inflammation of medium and small arteries of extremities→ painful ischemia→ gangrene
Seen almost exclusively in young and middle-aged men who smoke.

Small noncleaved cell lymphoma EBV
8:14 translocation
Seen commonly in jaws, abdomen, retroperitoneal soft tissues
Starry sky appearance

Nitric gas emboli

Trypansoma infection - cardiomegaly with apical atrophy, achlasia

(AR) Phagocyte Deficiency = defect in microtubule polymerization
Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph

Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin

Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. ­ Glycogen)

Prion infection →cerebellar & cerebral degeneration

Congenital hyperbilirubinemia (unconjugated)
Glucuronyl transferase deficiency. Can progress to Kernicterus
Less severe form will respond to Phenobarbital therapy

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

Acute gastric ulcer associated with severe burns

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

Acute gastric ulcer associated with CNS trauma

Self-limiting focal destruction (subacute thyroiditis)

Failure of 3rd & 4th pharyngeal pouches formation: Thymus & Parathyroid
Thymic hypoplasia →T-cell deficiency
Hypoparathyroidism →Tetany

Trisomy 21 or translocation – Simian Crease

Post-MI Fibrinous Pericarditis autoimmune

Congenital hyperbilirubinemia (conjugated) = bilirubin transposrt is defective not conjugation
Striking brown-to-black discoloration of the liver

Deficiency of dystrophin protein →MD X-linked recessive

Trisomy 18
Rocker-bottom feet, low ears, small lower jaw, heart disease

Defective collagen

Late cyanotic shunt (R→L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA

Trauma to superior trunk of brachial plexus Waiter’s Tip

Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22

Carcinoma in situ on glans penis

Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)

Rheumatoid arthritis, neutropenia, splenomegaly

AD = adenomatous polyps of colon, osteomas & soft tissue tumors

Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
Hepatosplenomegaly, femoral head & long bone erosion, anemia

Benign congenital hyperbilirubinemia (unconjugated) = ↓ d glucuronyl transferase activity

Defective glycoproteins on platelets = deficient platelet aggregation (lack GpIIb/IIIa)

Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s

Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4

Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)

Idiopathic pulmonary fibrosis. Can see honey comb lung.

Chronic progressive histiocytosis

Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH

Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism

Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
Associated with upper respiratory infections

Aganglionic megacolon

Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)

AD: Progressive degeneration of caudate nucleus, putamen (striatum) & frontal cortex ↓ GABA

Epileptic events originating in the primary motor cortex (area 4)

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

Malignant vascular tumor (HHV8 in homosexual men)

Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility

Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)

47, XXY: Long arms, Sterile, Hypogonadism

Bilateral lesions of amygdala (hypersexuality; oral behavior)

Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries

Alcoholic cirrhosis

HGPRT deficiency
Gout, retardation, self-mutilation

Acute disseminated Langerhans’ cell histiocytosis

Endocarditis with small vegetations on valve leaflets
Associated with SLE

Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons

Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)

Connective tissue defect: defective Fibrillin gene Dissecting aortic aneurysm, subluxation of lenses

Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = ↑ Glycogen)

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

Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries

Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)

Calcification of the media (usually radial & ulnar aa.)

Factitious disorder (consciously creates symptoms, but doesn’t know why)

1° Adrenal Cushings →surgical removal of adrenals →loss of negative feedback to pituitary →Pituitary Adenoma

Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation) “Foamy histiocytes”

Hereditary Hemorrhagic Telangiectasia. Seen in the Mormons of Utah.

Abnormal bone architecture (thickened, numerous fractures →pain)

Bronchogenic tumor with superior sulcus involvement →Horner’s Syndrome

Dopamine depletion in nigrostriatal tracts

Melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine

Subcutaneous fibrosis of dorsum of penis

1. Progressive dementia similar to Alzheimer’s
2. Constrictive pericarditis – sequel to mediastinal tuberculosis
Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole

Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)

Esophageal webs & iron-deficiency anemia, spoon-shaped nails, ↑SCCA of esophagus

Type II Glycogenosis – Glycogen storage disease →cardiomegaly (a 1,4 Glucosidase deficiency:↑ Glycogen)

Tuberculous osteomyelitis of the vertebrae

Renal agenesis →oligohydramnios →hypoplastic lungs, defects in extremities

recurrent vasospasm in extremities = seen in young, healthy women
Phenomenon: 2° to underlying disease (SLE or scleroderma)

Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular

Microvesicular fatty liver change & encephalopathy
2° to aspirin ingestion in children following viral illness, especially VZV

Idiopathic fibrous replacement of thyroid

Congenital hyperbilirubinemia (conjugated)
Similar to Dubin-Johnson, but no discoloration of the liver

Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)

Aluminum inhalation →lung fibrosis

Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery

Parkinsonism with autonomic dysfunction & orthostatic hypotension

Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s

MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism

Triad: dry eyes, dry mouth, arthritis ↑ risk of B-cell lymphoma

Juvenile melanoma (always benign)

Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = ↑↑LH secretion

Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa drugs)

Juvenile rheumatoid arthritis (absence of rheumatoid factor)

Aortic arch syndrome
Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats.
Common in young Asian females

Gangliosidosis (hexosaminidase A deficiency →GM2 ganglioside) Cherry Red Spots of the Macula

1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy

Involuntary actions, both motor and vocal
Txt w/ Pimozide

Colon adenomatous polyps plus CNS tumors

45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.

“Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium

Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton

Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
Adenomas of the viscera, especially ↑ Renal Cell Carcinoma
Chromosome 3p

Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17, NF-1)

Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement

Defect in platelet adhesion 2° to deficiency in vWF. ↑aPPT, ↑ Bleed time

Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies

Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp

Adrenal insufficiency 2° to DIC
DIC 2° to meningiococcemia

Paramedian Infarct of Midbrain
Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body)

Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc.

Icteric Leptospirosis non-icteric progresses to renal failure & myocarditis
Dark field microscopy for dx

MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary

Sensory Aphasia impaired comprehension

Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)

Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis

Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change
Chromosome 13

Immunodeficiency: combined B- &T-cell deficiency (thrombocytopenia & eczema)
↓ IgM w/ ↑ IgA

High iodine level (-)’s thyroid hormone synthesis

Esophageal; cricopharyngeal muscles above UES

Gastrin-secreting tumor of pancreas (or intestine) →↑ acid →recurrent ulcers

Interventricular septal defect

Floppy vale syndrome – women b/t 20-40 yoa

Minute abscesses found in subacute bacterial endocarditis

Combination of septum secundum atrial septal defect w/ mitral stenosis

Autoimmnue thyroid Disease (Hashimoto's ) & insulin-dependent diabetes