USMLE Gold Pearls

Polystotic fibrous dysplasia, precocious puberty, cafe au lait spots, short statue, young gir.s

Pernicious anemia (antibodies to intrinsic factor or parietal cells - decrease IF - decrease Vit B₁₂ - megaloblastic anemia)

Primary adrenocortical deficiency

Hereditary nephritis with nerve deafness

Progressive dementia

• Loss of light reflex constriction (contralateral or bilateral)
• "Prostitute's Eye" - accommodates but does not react
• Pathognomic for 3-syphilis
• Lesion pretectal region of superior colliculus

Cerebellar tonsil herniation through foramen magnum - see thoracolumber meningomyelocele

Columnar metaplasia of lower esophagus (increased risk of ADCA) - constant gastroesophageal reflux

Hyperreninema

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

CN VII (entire face: recall that UMN lesion only effects lower face)

IgA nephropathy causing hematuria in kids, usually following infection

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

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

Carcinorma in situ on shaft of penis (increased risk of visceral Ca) - [compare with Queyrat]

Recurrence of rickettsia prowazaki up to 50 years later

• Somatization disorder
• Psychological: multiple physical complaints w/o physical pathology

Motor aphasia (area 44 and 45) intact comprehension

Hemisection of cord (contralateral loss of pain and temp / ipsilateral loss of fine touch, UMN / ipsilateral loss of conscious proprioception)

X-linked agammaglobinemia (decreased B cells)

Post-hepatic venous thrombosis = abdominal 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 tissue
• Starry sky appearance

Nitric gas emboli

Trypansoma infection - cardiomegaly with apical atrophy, achlasia

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

Primary Aldosteronism: HTN, retain Na⁺ and H₂O; hypokalemia (causing alkalosis); decreased renin

Type III Glycogenosis - Glycogen storage disease (debranching enzyme amylo 1,6 glyosidase def, increased Glycogen)

Prion infection - cerebellar and 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, cobblestone, lymphocytic infiltrate, granulomas
• (contrast to UC; limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, increased colon ca risk)
• Clinically: ab pain and diarrhea; fever; malabsorption; fistulae b/t intestinal loops and abd strictures

Acute gastric ulcer associated w/ severe burns

• Disease: Hypercorticism 2 to increased ACTH from pituitary (basophilic adenoma)
• Syndrome: hypercorticism of all other causes (1 adrenal or ectopic)
• moon face, buffalo hump, purple striae, hirsutisim, HTN, hyperglycemia

Acute gastric ulcer associated with CNS trauma

Self-limiting focal destruction (subacute thyroiditis)

• Failure of 3^rd and 4^th pharyngeal pouches to form: thymus and parathyroid
• Thymic hypoplasia - T-cell deficiency
• Hypoparathyrodism - tetany

Trisomy of 21 or transolcation - Simian crease

Post-MI fibrinous pericarditis - autoimmune

• Congenital hyperbilirubinemia (conjugated) = bilirubin transport is defected not conjugation
• Striking brown-to-black discoloration of liver

Difficiency 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 & RHV secondary 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 <15yo- t11;22

Carcinoma in situ on glans penis

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

Rheumatoid arthritis, neurtopenia, splenomegaly

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

• Lysosomal Storage Disease: glucocerbroside deficiency - glucocerebroside accumulation
• Hepatosplenomegaly, femoral head and long bone erosion, anemia

Benign congenital hyperbilirubinemia (unconjugated) = decreased glycuronyl transferase act

Defective glycoproteins on platelets = deficient platelet aggregation

Autoimmune: ab's to glomerular and alveolar basement membranes. Seen in men in their 20's

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

Polyneuritis following viral infection / autoimmune (ascending muscle weakness and 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

• Hypersensitivity vasculitis = allergic purpura, Lesions have the same age
• Hemorrhagic urticaria (with fever, arthalgias, GI and renal involvement)
• Associated with URI

Aganglionic megacolon

Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often secondary to Pancoast tumor)

AD: progressive degeneration of caudate nucleus, putamen (striatum) and focal cortex. decreased 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
• Increased IgE levels

Malignant vascular tumor (HHV8 in homosexual men)

Immotile cilia secondary 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 w/ signet-ring cell (typically originating from stomach) metastases to ovaries

Alcoholic cirrhosis

• HGPRT deficiency
• Gout, retardation, self-mutilation

Acute disseminated Langerhans' cell histiocytosis

• Endocarditis w/ small vegetations on valve leaflets
• Associated w/ SLE

Amyotrophic Lateral Sclerosis - degeneration of upper and lower motor neurons

bleeding from esophagogastric lacerations secondary to wretching (alcoholics)

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

Type V Glycogenosis - Glycogen storage disease (muscle phyophorylase deficiency = increased glycogen)

• Rule of 2's = 2 in long, 2 feet from 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 hypertropic gastritis (enlarged rugae; plasma protein loss)

Calcification of media (usually radial and ulnar aa.)

Factitious disorder (consciously create symptom, but does not know why)

Primary 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 Mormon's of Utah

Abnormal bone architecture (thickened, numerous fractures - pain)

Bronchogenic tumor with superior sulcus involvement - Horner's Syndrome

Dopamine depletion in nigrostriatal tracts

(AD) Melanin pigmentation of lips, mouth, hand, genitalia, and hamartomatous polyps of small intestine

Subcutaneous fibrosis of dorsum of penis

• - Progressive dementia similar to Alzheimer's
• - 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, increased SCCA of esophagus

Type II Glycogenosis - Glycogen Storage Disease --> Cardiomegaly (alpha 1,4 Glycoside deficiency: increased Glycogen)

Tuberculous osteomyelitis of the vertebrae

Renal agenesis --> oligohydramnios --> hypoplastic lungs, defects in extremities

• Disease: recurrent vasospasm in extremities = seen in young healthy woman
• Phenomenon: secondary to underlying disease (SLE or scleroderma)

• Urethritis, Conjunctivits, Arthritis
• non-infectious (but often follows infections), HLA-B27, polyarticular

• Microvesicular fatty liver change & encephalopathy
• Secondary 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 liver

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

Aluminum inhalation - lung fibrosis

Postpartum pituitary necrosis - hemorrhage and shock usually occurred during delivery

Parkinsonism w/ autonomic dysfunction and orthostatic hypotension

Pituitary cachezia - can occur from either pituitary tumors or Sheehan's

MEN type IIa - pheochromocytoma, thyroid medullary CA, hyperparathyroidism

• Triad: dry eyes, dry mouth, arthritis.
• Increased risk of B-cell lymphoma

Juvenile melanoma (always benign)

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

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

Juvenile rheumatoid arthritis (absence of rheumatoid factor)

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

• (AR) Gangliosidosis (hexosaminidase A deficiency --> G_M2 ganglioside)
• Cherry red spots of the Macula

• VSD
• Overriding Aorta
• Pulmonary artery stenosis
• Right ventricular hypertrophy

• Involuntary actions, both motor and vocal
• Tx 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 accumulation

• Hemangioma (or hamangioblastoma) = cerebellum, brain stem and retina
• Adenomas of the viscera, especially increased Renal Cell Carcinoma
• Chromosome 3p

Neurofibromatosis and cafe au lait spots and Lisch nodules (Chromosome 17)

Osteitis fibrosa cystica ("brown tumor") secondary to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement

(AD) Defect in platelet adhesion secondary to deficiency in vWF, increased aPPT and bleeding time

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

• Posterior Inferior Cerebellar Artery (PICA) thrombosis - "Medullary Syndrome"
• Ipsilateral: ataxia, facial pain & temp
• Contralateral: body pain & temp

• Adrenal insufficiency secondary to DIC
• DIC secondary to meningiococcemia

• Paramedian Infarct of Midbrain
• Ipsilateral: Mydriasis
• Contralateral: UMN, paralysis (lower face and body)

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

• Icteric Leptospirosis (non-icteric progress to renal failure and myocarditis)
• Dark field microscopy for dx

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

Sensory aphasia - impaired comprehension

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

Malabsorption syndrome (w/ bacteria-laden macrophages) and polyarthritis

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

• Immunodifficiency: combined B and T cell deficiency (thrombocytopenia & eczema)
• Decreased IgM w/ Increased IgA

High iodine level (-)'s thyroid hormone synthesis

Esophageal; cricopharyngeal muscles above UES

Gastrin-secreting tumor of pancreas (or intestine) --> increased acid --> recurrent ulcers

Interventricular septal defect

Floppy vale syndrome - woman b/t 20-40 yo

Minute abscesses found in subacute bilateral endocarditis

Combination of septum secundum atrial septal defect w/ mitral stenosis

Autoimmune thyroid disease (Hashimoto's) and insulin-dependent diabetes