Lesch-Nyhan syndrome

defective purine salvage --> absence of HGPRT
XR - Boys
1.) increased uric acid production
2.) neurological manifestations
3.) cognitive/behavioural abnormalities including self mutilation.

Uric acid - uric acid crystals in diaper, Hyperuricosuria, kidney stones, hematuria, renal failure.
Pediatric gouty arthritis and growth defects.
Neurological - dystonias, choreo-athetosis, hyper-reflexia, babinsky and developmental delays.
Behavioural - 3 yrs.
lip biting > finger biting > head banging. Angry and cold personality.

Adenosine Deaminase deficiency

excess ATP and dATP
prevents DNA synthesis
--> SCID

Adenosine is used as an intermediary in adenosine and cysteine synthesis.
Its deficiency will result in increase in dATP, ATP and S-adenosyl-homocysteine.

dATP inhibits DNA synthesis.

I-Cell disease

inclusion cell dz
Deficiency of phosphotransferase (a golgi enzyme) Transfers phosphate to mannose residues on specific proteins, sends them to lysosomes. Rather than being secreted outside the cell (the default pathway). As a result, build up occurs within lysosomes "I cells," or "inclusion cells."
1.) developmental delay
2.) skeletal abnormalities.
3.) visceral abnormalities

short trunk, restricted joint movement.
High plasma levels of lysosomal enzymes destroying organ structures.
Visceral problems, course facial features, clouded corneas, hepatomegaly, splenomegaly and cardiac valve problems.

Death: within 7 years due to recurrent infections or CCF.

Chediak-Higashi syndrome

microtubule polymerization defect
decreased fusion of phagosomes and lysosomes
1.) recurrent pyogenic infections
2.) partial albinism
3.) peripheral neuropathy

Cant phagocytose bacteria
Cant transport melanin
Cant transport neurotransmitter through vesicles

Kartagener's syndrome

immotile cilia --> dynein arm defect.
1.) male and female infertility,
2.) bronchiectasis,
3.) recurrent sinusitis,
4.) situs inversus

Osteogenesis Imperfecta

brittle bone dz
Type I collagen
1.) mutliple fractures,
2.) blue sclerae,
3.) hearing loss (ossicles ?)
4.) dental imperfections (lack dentin)

Mistaken for infant abuse


type 3 collagen
1.) hyperextensible skin, hypermobile joints
2.) tendency to bleed , easy bruising,

Alport syndrome

Type 4 collagen (Basement membrane)
XR - Boys
Defective basement membranes in nephrons, inner ear and eyes.

1.) glomerulo-nephritis (unexplained hematuria in young boys)
2.) sensorineural hearing loss
3.) ocular disturbances

Prader-Willi syndrome

normally imprinted maternal allele --> Paternal allele should be active, but is deleted
1.) hypotonia
2.) behaviour problems ie mental retardation and excessive eating (obesity)
3.) hypogonadism

Angelman's syndrome

normally imprinted paternal allele --> Maternal allele should be active, but is deleted

1.) severe developmental delay and MR
2.) Seizures and ataxia
3.) happy personality, inappropriate laughter.


fibroblast growth factor (FGF) receptor 3 signaling defect
dwarfism -- short limbs, head/trunk normal size
advanced paternal age

Vs. I cell disase ( short trunk)
Vs. downs (maternal age)


bilateral massive enlargment of kidneys --> multiple large cysts
flank pain
progressive renal failure
mutation in PKD1 on chr 16
death from chronic kidney dz or HTN
assoc with similar defects in liver, pancreas, blood vessels and brain.
LIVER: polycystic liver
BLOOD VESSELS: berry aneurysm, MVP

FAP (familial adenomatous polyposis)

colon covered w/ adenomatous polyps post puberty
mution in APC gene of chr 5
colon cancer unless resected

Familial Hypercholesterolemia

defective/absent LDL receptor --> elevated LDL
severe atherosclerotic dz early in life; tendon xanthomas (achilles); MI before age 20 possible

Osler-Weber-Rendu syndrome

hereditary hemorrhagic telangiectasia
inherited blood vessel disorder
telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malforms (AVMs)

hereditary spherocytosis

spectrin or ankyrin defect
hemolytic anemia
increased MCHC
splenectomy is curative

Huntington's disease

depression, progressive dementia, choreiform, caudate atrophy, decreased levels GABA and ACh
20-50 y/o
chr 4 --> trinucleotide repeat disorder (HUNTING 4 FOOD)

Marfan's syndrome

fibrillin gene mutation
CT disorder of skeleton, heart, eyes
tall w/ long extremities, pectus excavatum, hyperextension, long/tapering fingers/toes
dissecting aortic aneurysms; floppy mitral valve

Neurofibromatosis Type I

von Recklinghausen's dz
cafe-au-lait spots, neural tumors, lisch nodules, skeletal disorders, optic pathway gliomas
chr 17 (long arm)

Neurofibromatosis Type II

bilateral acoustic schwannomas, juvenile cataracts
NF2 gene on chr 22

Tuberous Sclerosis

facial lesions, ash leaf spots, hamartomas, seizures, MR, renal cysts and angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas

von Hippel-Lindau disease

hemangioblastomas of retina / cerebellum / medulla, multiple bilateral renal cell carcinomas
deletion of VHL gene on chr 3

Cant pee, cant see, cant climb a tree

Cystic Fibrosis

CFTR gene on chr 7 (del Phe 508)
secretes abnormally thick mucus that plugs lungs, pancreas, liver
infertility in males (bilat absence of vas deferens)
fat soluble vit def (ADEK)
dx: increased concentration Cl- ions in sweat test
tx: N-acetylcysteine

Duchenne's Muscular Dystrophy

Del Dystrophin gene (DMD) --> accelerated muscle breakdown
weakness in pelvic girdle muscles progressing superiorly
pseudohypertrophy of calf muscles
cardiac myopathy
Gower's maneuver to stand
onset before age 5
dx: increased CPK and muscle biopsy

Becker's Muscular Dystrophy

mutated dystrophin gene
less severe
onset in adolescence / early adulthood

Fragile X syndrome

Trinucleotide repeat (CGG) --> FMR1 gene
MR, macroorchidism, long face, large jaw, large everted ears, autism, MVP (mitral valve prolapse)
X = XL testes, jaw, ears

Down syndrome

trisomy 21 (meiotic nondisjxn of homologous chromosomes)
MR, flat facies, epicanthal folds, simian crease, ASD, alzheimers dz
pregnancy screen: decreased a-fetoprotein (AFP) and estradiol, increased B-hCG and inhibin A; increased nuchal translucency on US

Edwards' syndrome

trisomy 18
severe MR, rocker-bottom feet, micrognathia (small jaw), low-st ears, clenched hands, prominent occiput, congenital heart dz
death usually w/in 1 yr
decreased a-fetoprotein, B-hCG, estriol; normal inhibin A

Patau's syndrome

trisomy 13
severe MR, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, CHD
death usually w/in 1 yr
normal a-fetoprotein, B-hCG, estriol, inhibin A

Cri-du-Chat syndrome

microdeletion of chr 5 short arm
microcephaly, mod/severe MR, high-pitch cry/mewing, epicanthal folds, cardiac abnorms (VSD)

Williams syndrome

microdeletion of chr 7 long arm (includes elastin del)
elfin facies, MR, hyperCa, extreme friendliness, cardiovascular probs

DiGeorge syndorme

22q11 del
thymic aplasia (T cell def), parathyroid aplasia (hypoCa), cardiac defects

Vit A deficiency

night blindness, dry skin

Vit A excess

arthralgias, fatigue, h/a, skin changs, ST, alopecia; teratogenic

Vit B1 deficiency

impaired glucose breakdown --> ATP depletion
Wernicke-Korsakoff (confusionm, opthalmoplegia, ataxia)
dry beriberi -- polyneuritis, muscle wasting (symmetrical)
wet beriberi -- high-output cardiac failure, edema

Vit B2 deficiency

Cheilosis, Corneal vascularization

Vit B3 deficiency

3D's: Diarrhea, Dermatitis, Dementia
Glossitis, pellagra, malignant carcinoid syndrome, INH

Vit B3 excess

facial flushing

Vit B5 deficiency

Dermatitis, enteritis, alopecia, adrenal insufficiency

Vit B6 deficiency

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (impaired Hb synth and Fe excess)

Vit B12 deficiency

macrocytic/megaloblastic anemia, hypersegmented PMNs, neurolo sx (paresthesias, subacute degeneration -- abn myelin)

Folic acid deficiency

macrocytic/megaloblastic anemia, NO neuro sx, neural tube defects in pregnancy
seen in alcoholics and pregnancy
MOST COMMON vit def in US

Biotin deficiency

dermatitis, alopecia, enteritis
seen in abx use or excessive raw egg ingestion

Vit C deficiency

(ascorbic acid)
Scurvy -- swollen gums, bruising, hemarthrosis, anemia, poor wound healing (collagen defect)
weakened immune response

Vit C excess

n/v, diarrhea, fatigue, sleep probs
increased risk Fe toxicity

Vit D deficiency

kids -- Rickets (bending bones)
adults -- osteomalacia (soft bones)
hypocalcemic tetany

Vit D excess

hypercalcemia, hypercalciuria, loss of appetite, stupor, sarcoidosis

Vit E deficiency

increasd erythrocyte fragility (hemolytic anemia)
muscle weakness, posterior column and spinotcerebellar tract demyelination

Vit K deficiency

neonatal hemorrhage w/ increased PT/PTT and normal bleeding time
can be from prolonged use broad-spectrum abx; neonates -- not in breast milk
decreased synthesis of factors 2, 7, 9, 10, proteins C and S

Zinc deficiency

delayed wound healing, hypogonadism, decreased "adult" hair, dysgeusia, anosmia


protein malnutrition --> small child w/ swollen belly
protein-deficienct MEAL: malnutrition, edema, anemia, liver-fatty


energy malnutrition --> tissue/muscle wasting, lose subQ fat, variable edema

pyruvate dehydrogenase deficiency

lactic acidosis
neuro defects
tx: increase intake of ketogenic nutrients (high fat)

G6PD (glucose-6-phosphatase deficiency)

decreased NADPH
hemolytic anemia --> poor RBC defense against oxidizing agents
heinz bodies (oxidized Hb ppt w/in RBC)
bite cells (phagocytic removal of heinz bodies by splenic macrophages)

Essential Fructosuria

defect in fructokinase
benign, asx
fructose in blood/urine

Fructose Intolerance

deficiency of aldolase B
fructose-1-phosphate accumulates --> decrease in available phosphate --> inh glycogenolysis and gluconeogenesis
sx: hypoglycemia, jauindice, cirrhosis, vomiting
tx: decrease intake fructose and sucrose (glucose fructose)

Galactokinase deficiency

galactitol accumulates if galactose is present in diet
galactose appears in blood and urine; infantile cataracts

Classic Galactosemia

absence of galactose-1-phosphate uridyltransferase
accumulation of toxic substances (galactitol -- lens)
sx: failure to thrive, jaundice, hepatomegaly, infantile cataracts, MR
tx: exclude galactose and lactose (galactose glucose)


excess NH4 --> depletes a-KG --> inh TCA
ammonia intoxication: tremor, slurring speech, somnolence, vomiting, cerebral edema, blurred vision
tx: limit protein; benzoate or phenylbutyrate; lactulose

Ornithine Transcarbamoylase (OTC) deficiency

decreased ability to eliminate ammonia --> excess carbamoyl phosphate --> orotic acid (found in blood/urine)
decreased BUN, sx of hyperammonemia

PKU (phenylketonuria)

decreased phenylalanine hydroxylase OR decreased tetrahydrobiopterin cofactor
increased phenylalanine --> XS phenylketones in urine
MR, growth retardation, seizures, fair skin, eczema, musty body odor
tx: decrease phenylalanine, increase tyrosine

Maternal PKU

lack of proper diet therapy during pregnancy
microcephaly, MR, growth retardation, congenital heart defects

Alkaptonuria (ochronosis)

homogentisic acid oxidase def
dark CT, brown pigmented sclera, urine turns black in air (prolonged); debilitating arthralgias possible


1. deficienct tyrosinase (cant make melanin) 2. defective tyrosine transporters (decreased melanin)
can be from lack of migration of neural crest cells
normal melanocyte number, but lack melanin --> incr risk skin ca


3 forms:
1. cystathionine synthase def
2. decreased affinity of cystathionine synthase for pyridoxal phosphate
3. homocysteine methyltransferase deficiency
all result in XS homocysteine (urine)
MR, osteoporosis, tall stature, kyphosis, lens subluxation (down/in), atherosclerosis (stroke/MI)


defect of renal tubular a.a. transporter for cysteine, ornithine, lysine, arginine in the PCT of kidneys --> XS cystine (urine) --> ppt cystine kidney stones (staghorn calculi)
tx: acetazolamide (alkalineize urine)

Maple Syrup Urine disease

decreased a-ketoacid dehydrogenase --> blocked degradation of Ile, Leu, Val (branched a.a.) --> increased a-ketoacids in blood
severe CNS defects, MR, death

to remember: "I Love Vermont maple syrup from the branches of maple trees

Hartnup disease

defective neutral a.a. transporter on renal and intestinal epithelial cells
tryptophan excretion in urine and decreased absorption from gut
decreased tryptophan --> PELLAGRA

Von Gierke's disease

type I glycogen storage disease
def glucose-6-phosphatase
severe fasting hypoglycemia, increased liver glycogen, increased blood lactate (lactic acidosis), hepatomegaly

remember: Von Gierkes = Very bad Glycogen storage dz

Pompe's disease

type II glycogen storage disease
def lysosomal a-1,4-glucosidase (acid maltase)
Cardiomegaly, systemic probs --> early death

remember: Pompe's dz = pompe probleme and die w/out the pump

Cori's disease

type III glycogen storage disease
def a-1,6-glucosidase (debranching enzyme)
milder type I w/ normal blood lactate levels; gluconeogenesis intact

remember: Cori = type 3 (C=3)

McArdle's disease

type 4 glycogen storage disease
def glycogen phosphorylase (skeletal muscle)
increased muscle glycogen --> can't break down --> painful muscle cramps, myoglobinuria w/ strenuous exercise

remember: Mcardles = Muscle problem

Fabry's disease

lysosomal storage disease
def a-galactosidase A --> accum ceramide trihexoside
peripheral neuropathy hands/feet; angiokeratomas; cardiovascular/renal dz
x-linked recessive

Gaucher's disease

most common lysosomal storage disease
def glucocerebrosidase --> accum glucocerebroside
hepatosplenomegaly, aseptic necrosis of femur, bone crises, crumpled paper macrophages (gauchers cells)

Niemann-Pick disease

lysosomal storage disease
def sphingomyelinase --> accum sphingomyelin
progressive neurodegen, hepatosplenomegaly, cherry-red spot on macula, foam cells

Tay-Sachs disease

lysosomal storage disease
def hexosaminidase A --> accum GM2 ganglioside
progressive neurodegen, NO hepatosplenomegaly, cherry-red spot on macula, lysosomes w/ onion skin

Krabbe's disease

lysosomal storage disease
def B-galactocerebrosidase --> accum galactocerebroside
peripheral neuropathy, develop delay, optic atrophy, globoid cells

Metachromatic leukodystrophy

lysosomal storage disease
def arylsulfatae A --> accum cerebroside sulfate
central/peripheral demyelination w/ ataxia, dementia

Hurler's syndrome

lysosomal storage disease
def a-L-iduronidase --> heparan sulfate, dermatan sulfate
develop delay, gargoylism, airway obstruct, corneal clouding, hepatosplenomegaly

Hunter's syndrome

lysosomal storage disease
def iduronate sulfatase --> heparan sulfate, dermatan sulfate
mild hurlers (delay, gargoylism, airway obstruct, hepatosplenomegaly) w/ aggressive behavior
NO corneal clouding (hunters can see)
x-linked recessive


familial dyslipidemia type I
increased chylomicrons
elevated blood TG and cholesterol
LPL deficiency or altered apolipoprotein C-II
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas; fatty liver

Familial Hypercholesterolemia

familial dyslipidemia type IIa
increased LDL
elevated blood cholesterol
absent or decrecreased LDL receptors
accelerated atherosclerosis, tendon xanthomas (achilles), corneal arcus


familial dyslipidemia type IV
increased VLDL
elevated blood TG
hepatic overproduction of VLDL


def apoB-100 and apoB-48 --> inability to synth lipoproteins
intestinal biopsy shows accum w/in enterocytes (inability to export absorbed lipid as chylomicrons)
failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness w/in first few mos of life

Duodenal Atresia

failure to recanalize (trisomy 21)
bilious vomit on first day of life
Double bubble sign on xray

Tracheoesophageal Fistula

cyanosis, chocking/vomiting w/ feeding, air bubble in stomach on xray, polyhydramnios, failure to pass NG tube to stomach, pneumonitis
most common = blind upper esophagus w/ lower esophagus connected to trachea

Congenital Pyloric Stenosis

hypertrophy of pylorus = obsturction
palpable olive mass in epigastric region
nonbilious projectile vomiting x 2wks
1st born males
tx: surgical incision (pyloromyotomy)

Potter's syndrome

malformation of ureteric bud
bilateral renal agenesis --> oligohydramnios --> limb deforms, facial deforms, pulmonary hypoplasia

Horseshoe Kidney

inferior poles of both kidneys fuse
gets trapped under inferior mesenteric artery (IMA) and remain low in abdomen
normal kidney fxn
assoc w/ Turner syndrome

Bicornate Uterus

incomplete fusion of paramesonephric ducts
assoc w/ urinary tract abnorms and infertility

Bruton's Agammaglobulinemia

X-linked recessive
defect in BTK (tyrosine kinase) that blocks pro-B cells from forming pre-B cell
recurrent bacterial infects after 6 mos
absent thymic shadow
decreased B cells and immunoglobulins of all classes

Hyper-IgM syndrome

defective CD40L (helper T cells) that cant class switch
severe pyogenic infections
increased IgM
decreased IgG, IgA, IgE

Selective Ig deficiency

defect in isotype switching
sinus/lung infects, milk allergies, diarrhea, anaphylaxis on exposure to blood w/ IgA
IgA def most common

Common Variable ImmunoDeficiency (CVID)

defect in B-cell maturation
can be acquired in 20-30s
risk of AI dz, lymphoma, sinopulmonary infects
normal number B cells
decreased plasma cells and immunoglobulin

Thymic Aplasia (DiGeorge syndrome)

22q11 del
fail to develop 3rd/4th pharyngeal pouches
tetany, recurrent viral/fungal infects, congenital heart / great vessel defects
thymus/parathyroid fail to develop
decreased T cells, PTH, Ca
absent thymic shadow on CXR

IL-12 Receptor deficiency

decreased Th1 response
disseminated mycobacterial infects
decreased IFN-gamma

Hyper-IgE syndrome (Job's syndrome)

Th cells fail to produce IFN-gamma
inability of neutrophils to respond to chemotactis
FATED: coarse Facies, Abscesses (staph), primary Teeth retained, IgE increase, Derm probs

Chronic Mucocutaneous Candidiasis

T-cell dysfxn
candida infects of skin and mucus membranes

Severe Combined Immunodeficiency (SCID)

several types
most common = defective IL-2 receptor
(also adenosine deaminase def, fail to synth MHC II antigens)
recurrent viral, bacterial, fungal and protozoal infects (both B and T cell def)
absent thymic shadow, germinal centers and B cells
tx: bone marrow transplant
decreased IL-2R = decreased T-cell activation


defects in ATM gene
triad: cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA def

Wiskott-Aldrich syndrome

X-linked recessive
progressive del of B and T cells
triad: Thrombocytopenic purpura, Infections, Eczema
increased IgE, IgA
decreased IgM

Leukocyte Adhesion deficiency (type I)

defect in LFA-1 integrin (CD18) protein on phagocytes
recurrent bacterial infects, no pus formation, delayed umbilicus separation
neutrophilia (increased in blood tho)

Chediak-Higashi syndrome

defect in lysosomal regulator trafficking gene (LYST)
microtubule dysfxn in phagosome-lysosome fusion
recurrent pyogenic infects by staph/strep
partial albinism, peripheral neuropathy

Chronic Granulomatous disease

lack NADPH oxidase
decreased ROS and absent resp burst in neutrophils
increased susceptibility to catalase orgs (staph, E coli, aspergillus)
-Nitroblue tetrazolium dye reduction test

Temporal Arteritis (giant cell arteritis)

unilateral h/a (over temporal a)
jaw claudication
irriversible blindness due to opthalmic artery occlusion possible
assoc w/ polymyalgia rheumatica (proximal muscle inflammation)
increased ESR (usually ESR>50; pt>50y/o)
tx: high dose steroids

Takayasu's Arteritis

Asian females < 40y/o
weak upper extremity pulses
fever, night sweats, arthritis, myalgias, skin nodules, ocular disturbances (visual loss)
granulomatous thickening of aortic arch
increased ESR (systemic inflammation)
dx: CT scan

Polyarteritis nodosa

young adults
hep B
fever, wt loss, malaise, h/a
abd pain, melena
HTN, neuro dysfxn, cutaneous erruptions
renal and visceral vessels (NOT pulmonary arteries)
immune-complex mediated
transmural w/ fibrinoid necrosis
lesions of different ags ('beads on a string')
tx: corticosteroids, cyclophosphamide

Kawasaki disease

Asian kids < 4y/o
fever, lymphadenitis, conjunctivitis, changes in lips/oral mucosa (strawberry tongue), hand/foot erythema, desquamation
possible coronary aneurysm
tx: IV immunoglobulin aspirin

Buerger's disease

thromboangiitis obliterans
heavy male smokers < 40y/o
intermittent claudication --> gangrene, digit autoamputation, superficial nodular phlebitis
raynauds phenom
tx: smoking cessation

Microscopic Polyangiitis

pauci-immune glomerulonephritis, palpable purpura
no granulomas
(like wegeners w/out granulomas)

Wegener Granulomatosis

upper resp tract -- perf of nasal septum, chr sinusitis, otitis media, mastoiditis
lower resp tract -- hemoptysis, cough, dyspnea
renal -- hematuria, red cell casts
triad: focal necrotizing vasculitis, necrotizing granulomas in lung/upper airway, necrotizing glomerulonephritis
xray = large nodular densities
tx: cyclophosphamide, corticosteroids

Churg-Strauss syndrome

asthma, sinusitis, palpable purpura, peripheral neuropathy
heart/GI/ kidneys
granulomatous vasculitis w/ eosinophilia

Henoch-Schonlein Purpura

childhood systemic vasculitis
follows URIs
tirad: skin w/ palpable purpura on buttocks/legs; arthralgia; GI w/ abd pain, melena, multiple lesions of same age
IgA immune complexes (assoc w/ IgA nephropathy)

Sturge-Weber disease

congential vascular disorder
capillary-sized blood vessels -- small vessels
port-wine stain on face, ipsilateral leptomeningeal angiomatosis, seizures, early glaucoma

Sheehan syndrome

postpartum pituitary necrosis
failure to lactate
hypopituitarism, hypothyroid, hypocortical
pituitary gland enlargement during pregnancy (w/ incr serum estrogen) --> delivery w/ severe blood loss --> arteriolar spasm --> ischemic necrosis

Cushing's disease

ACTH secretion from pituitary adenoma
increased ACTH
low dose dexamethasone increases cortisol / cortisol stays high
high dose dexamethasone decreases cortisol
HTN, wt gain, moon facies, truncal obesity, buffalo hump, hyperglycemia/insulin resistance, skin changes/thinning/striae, osteoporosis, amenorrhea, immune suppression

Ectopic ACTH secretion

nonpituitary tissue making ACTH (small cell lung cancer, bronchial carcinoids)
increased ACTH
dexamethasone doesn't decrease cortisol at low or high dose

Conn's syndrome

primary hyperaldosteronism
aldosterone-secreting adrenal adenoma
HTN, hypokalemia, met alk, low plasma renin
tx: surgical removal of tumor /- spironolactone

Secondary Hyperaldosteronism

kidney perception of low intravascular volume --> overactive renin-angiotensin system
renal artery stenosis, chr renal fail, CHF, cirrhosis or nephrotic syndrome are causes
high plasma renin

Addison's disease

chronic primary adrenal insufficiency
adrenal atrophy or destruction (by disease) of all 3 cortical layers
def of aldosterone and cortisol --> hypotension
decreased pituitary ACTH production
skiin hyperpigmentation, hyperkalemia

Waterhouse-Friderichsen syndrome

acute primary adrenal insufficiency due to adrenal hemorrhage
assoc w/ neisseria meningitidis, septicemia, DIC, endotoxic shock
DIC, ARDS, hypotension, acute renal fail, petechial rash
tx: abx, hormone replacement


most common tumor of adrenal medulla in kids
anywhere along sympathetic chain
increased urine DA

Thyroglossal Duct Cyst

ectopic thyroid tissue most commonly on tongue
often seen as cyst in midline of neck

Hashimoto's Thyroiditis

most common hypothyroid
AI (anti-microsomal, anti-thyroglobulin AB)
HLA-DR5 assoc
hurthle cells (large cells w/ pink cytoplasm surrounded by lymphocytes)
enlarged, nontender thyroid
assoc w/ lymphoma


severe fetal hypothyroidism
lack dietary iodine --> endemic goiter
sporadic --> defect in T4 formation or develop failure in thyroid formation
pot-belly, pale/puffy face, protruding umbilicus and tongue

Subacute thyrioditis (de Quervain's)

self-limited hypothyroid following flu-like dz
granulomatous inflammatoin
incr ESR, jaw pain, TENDER thyroid

Riedel's Thyroiditis

thyroid replaced by fibrous tissue
fixed, hard, painless goiter

Grave's disease

AI hyperthyroidism
TSH receptor AB
ophthalmopathy/proptosis, myxedema, incr CT deposition, goiter

Thyroid Storm

stress induced catecholamine surge
death by arrhythmia
complicatoin of Graves and other hyperthyroid
incr ALP w/ incr bone turnover

Toxic Multinodular Goiter

focal patches hyperfxning follicular cells working independent of TSH
mutation in TSH receptor
increased release T3 and T4
rarely malignant

Thyroid Adenoma

benign, monoclonal tumor of follicular cells
cold nodules
tx: surgical thyroid lobectomy

Papillary Carcinoma of Thyroid

most common
ground-glass nuclei / orphan annie
psammoma bodies

Medullary Carcinoma of Thyroid

parafollicular C cells produce calcitonin
sheets of cells in amyloid stroma
MEN 2A/2B association

Diabetes Insipidus

intense thirst/polyuria
inability to concnetrate urine
lack of ADH = central; lack renal response to ADH = nephrogenic
dx: water deprivation --> u osm doesnt increase; desmopressin
if desmopressin (which binds ADH receptors) increases u osm = central DI (fills in for lacking ADH)
if desmopressin doesn't increase u osm = nephrogenic (there is normal ADH level already)
tx: central DI w/ desmopressin


syndrome of inappropriate antidiuretic hormone secretion
excess water retention, hypoNa, u osm > serum osm
causes: ectopic ADH (small cell lung ca), CNS prob, pulmonary dz, drugs
tx: demeclocycline, H2O restriction, hypertonic saline

Nonenzymatic Glycosylation in DM

small vessel dz (retinopathy, glaucoma, nephropathy)
large vessel atherosclerosis (CAD, peripheral vascular occlusive dz, gangrene)

Osmotic Damage in DM


Carcinoid syndrome

recurrent diarrhea, cutaneous flushing, asthmatic wheezing, right sided valvular disease
neuroendocrine cell tumors
most common tumor of appendix; increased 5-HIAA in urine
1/3 metastasize, 1/3 present w/ 2nd malignancy, 1/3 multiple/multifocal
tx: octreotide

Zollinger-Ellison syndrome

gastrin-secreting tumor of pancreas or duodenum
stomach shows rugal thickening w/ acid hypersecretion
causes recurrent ulcers
may be assoc w/ MEN 1




medullary thyroid carcinoma

(assoc w/ ret gene)


medullary thyroid carcinoma
oral/intestinal ganglioneuromatosis
marfanoid habitus

(assoc w/ ret gene)

Hiatal Hernia

Sliding hiatal hernia -- most common, GE jxn displaced = hourglass stomach

Paraesophageal hernia -- GE jxn normal, cardia moves into thorax

Indirect Inguinal Hernia

goes thru INternal/deep inguinal ring, external/superficial inginal ring and INto the scrotum (follows path of testicular descent)
INfants (failure of processus vaginalis to close)

Direct Inguinal Hernia

protrudes thru inguinal/Hesselbach's triangle
bulges directly thru abdominal wall medial to inferior epigastric artery
ONLY thru external/superficial inguinal ring
older men

Medial to inferior epigastric artery = Direct
Lateral to inferior epigastric artery = Indirect
(Mel Doesn't LIe)

Femoral Hernia

protrudes below inguinal ligament thru femoral canal -- below and lateral to pubic tubercle
leading cause of bowel incarceration


failure of lower esophageal sphincter (LES) to relax
loss of myenteric/auerbachs plexus
progressive dysphagia to solids and liquids
barium swallow --> dialted esophagus w/ area of distal stenosis (bird's beak)
increased risk of esophageal carcinoma
may be due to chagas dz
tx: balloon dilation of LES or surgical myotomy (otherwise CCB, nitrates, botulinum toxin)

Esophageal Varices

painless bleeding of submucosal veins in lower 1/3 of esophagus

Infective Esophagitis

HSV-1 = punched out ulcers
CMV = linear ulcers
Candida: white pseudomembrane

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