Classic Presentations Flashcards
Abd pain, ascites, hepatosplenomegaly
Budd-Chiari Syndrome
“Budd-Chiari Blocks Cavae”
Occlusion of IVC or hepatic veins
Predisposing conditions:
PNH, Polycythemia vera, Hepatocellular carcinoma
Achilles tendon xanthoma
Familial hypercholesterolemia (AD decreased/absent LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Frederichsen Syndrome (meningococcemia from Neisseria meningitis)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints, tall & thin habitus
Marfan’s Syndrome (fibrillin defect)
Back pain
Fever, night sweats, weight loss
Pott’s Disease
Tuberculosis in the spine
Back pain + B symptoms (may also look like leukemia/lymphoma, multiple myeloma, or other cancers)
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Black females, elevated serum ACE, hypercalcemia due to elevated 1alpha-hydroxylase mediated VitD activation in epithelioid macrophages
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis, increased hat size, hearing loss
Paget’s disease of bone
(increased activity of both osteoclasts and -blasts)
Serum Ca, Phos, PTH normal
High ALP
mosaic bone pattern, long chalk-stick fractures, arteriovenous shunts may cause high output heart failure
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
Neurofibromatosis type I (+pheochromocytoma, optic nerve gliomas), Skeletal d/o (scoliosis)
von Recklinghausen
AD
Chr 17
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation such that you have low cAMP signaling)
“Cherry-red spot” on macula
1) Tay-Sachs (ganglioside accumulation)
2) Niemann-Pick (sphingomyelin accumulation)
3) central retinal artery occlusion
Chest pain, pericardia effusion/friction rub, persistent fever post MI
Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 wks post acute MI)
Child with fever later develops red rash on face that spreads to body
“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington’s disease (AD trinucleotide CAG repeat expansion)
Chr. 4
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (AR: muscle glycogen phosphorylase deficiency)
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous “machine-like” murmur
PDA (close with indomethacin, open/maintian with misoprostol)
Cutaneous/dermal edema from connective tissue deposition
Myxedema (hypothyroidism (facial/periorbital), or Graves’ disease [pretibial])
Dermatitis, dementia, diarrhea, death
Pellagra (niacin [vit B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vit B1] deficiency)
Dog or Cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site) Bartonella hensleae
Dry eyes, dry mouth, arthritis
Sjogren’s syndrome (autoimmune destruction of exocrine glands: lymphocytic infiltrate)
Females 40-60, assoc. c RA
Parotid enlargement, risk of B cell lymphoma, dental caries
anti-SS-A (Ro), SS-B (La)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Vinson the Plumber is too weak to work, can’t lift his heavy iron wrenches (iron def. anemia), he can’t swallow because his big tongue and esophageal webs.
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
Erythroderma, lymphadenopathy, HSM, atypical T cells
1) Mycosis fungoides (cutaneous T cell lymphoma)
2) Sezary syndrome (leukemic form of MF)
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat, female, forty, fertile, (and family history)
Cholelithiasis (gallstones)
Increased Estrogen stimulates HMG-CoA to increase Cholesterol synthesis, and increased progesterone decreases gall bladder motility
Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash
Measles (Paramyxoviridae - > morbillivirus)
Fibrous plaques in soft tissue of penis
Peyronie’s disease (connective tissue disorder)
Gout, mental retardation, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Lesch Nyhan eat My Hand
HGPRT = Hypoxanthine-guanine phosphoribosyltransferase
Green-yellow rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation from Wilson’s disease)
Copper in liver, brain, cornea, kidneys, joints
Low Ceruloplasm, cirrhosis, hepatocellular carcinoma
Copper is Hella BAD
Hemolytic anemia, Basal ganglia degen (parkinsons), Asterixis, Dementia, Dyskinesia, Dysarthria
Chr. 13
Rx penicillamine
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; elevated cancer risk, esp GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation of alpha chain of collagen IV) XR
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilat amygdala lesion)
Hypoxemia, polycythemia, hypercapnia
“Blue bloater” (Chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, treponema pallidum)
Painful c exudate: chancroid (Haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly, or holoprosencephaly, polydactyly, cutis aplasia (absence of skin)
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, HSM, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase def)
Infant with hypoglycemia, failure to thrive, and HSM
Cori’s disease (debranching enzyme def)
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defect
Edwards syndrome (trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier’s sign (distal obstruction of biliary tree)
Painless jaundice is pancreatic cancer until proven otherwise
Male child, recurrent infections, no mature B cells
Bruton’s disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation due to lack of Gp2b/3a)
if prolonged PTT consider von Willebrand’s disease, which also has normal platelets and increased bleeding time, with a normal to increased PTT
VWD is most common inherited bleeding disorder, AD (so look for inheritance pattern), diagnosed by ristocetin cofactor assay
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner’s syndrome (subtype of Familial adenomatous polyposis (FAP))
Multiple teeth like an herbivore –> eats plants –> GARDENER
Multiple teeth ~~ Multiple polyps
Myopathy, infantile hypertrophic cardiomyopathy, exercise intolerance
Pompe’s disease (lysosomal alpha-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (pituitary infarction)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)
Painful raised red lesions on pad of fingers/toes
Osler’s node (infective endocarditis, immune complex dep)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Kidney stones, stomach ulcer (epigastric pain etc)
MEN 1 (autosomal dominant)
Pancreatic tumor: ZE syndrome, insulinomas, VIPomas
Parathyroid tumors: hypercalcemia
Pituitary tumor: PRL or GH
Menin mutation
(diamond)
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorption defect)
Pruritic, purple, polygonal planar papules and plaques (6Ps)
Lichen planus - assoc. with Hep C
Rash on palms and soles
1) Coxsackie A
2) Secondary Syphilis
3) Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper-IgE syndrome, aka Job’s syndrome (neutrophil chemotaxis abnormality)
FATED: coarse Facies, cold staph Abscesses, retained primary Teeth, high IgE, Derm problems
Red “currant jelly” sputum in alcoholic or diabetic pt
Klebsiella pneumoniae
Red “currant jelly” stools
1) Acute mesenteric ischemia (adults)
2) intussusception (infant)
Red, itchy swollen rash of nipple/areola
Paget’s disease of the breast (underlying DCIS neoplasm)
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lendau disease (dominant tumor suppressor gene mutation)
VHL gene on Chr. 3
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Severe jaundice in neonate
Criggler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Def. UDP-glucuronyl transferase
kernicterus (bilirubin in brain)
Rx: plasmapharesis, phototherapy
Short stature, Increased incidence of tumors/leukemia, aplastic anemia
Fanconi’s anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dynein arm defect affecting cilia)
sounds like Cartographers syndrome - Map makers think they know the world but they have it all inverted and they just stay inside because they are always sick and they don’t have girlfriends
Skin hyperpigmentation, hypotension, fatigue
Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production)
Slow, progressive muscle weakness in boys
Becker’s muscular dystrophy (X-linked missense mutation in dystrophin; less severe thean Duchenne’s)
Smooth, flat, moist, painless white lesions on genitals
Condylomata lata (secondary syphilis)
“Strawberry tongue”
1) Scarlet fever
2) Kawasaki’s disease
3) Toxic shock syndrome
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy (vit C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [Heberden’s nodes])
Thyroid and parathyroid tumors, pheochromocytoma
MEN2A (autosomal dominant ret mutation)
Medullary thyroid carcinoma (calcitonin)
Thyroid rumors, pheo, ganglioneuromatosis (oral tumors)
MEN2B (autosomal dominant ret mutation)
Medullary thyroid carcinoma (calcitonin)
Marfanoid habitus
Urethritis, conjunctivitis, arthritis in a male
Reiters syndrome: reactive arthritis associated with HLA-B27
Vascular birthmark (port-wine stain)
Hemangioma (benign, but associated with Sturge-Weber syndrome)
Sturge-Weber - affects small vessels
Port wine stain, seizures, glaucoma, AV malformation
Older man with weight loss, diarrhea, arthritis, fever, adenopathy
Whipples disease (Tropheryma whipplei)
Also cardiac and neurologic symptoms
PAS positive staining foamy macrophages (periodic acid-schiff, stains for mucopolysaccharides [PASs the sugar])
mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
Phenylketonuria
AR
lack of Phenylalanine hydroxylase or tetrahydrobiopterin cofactor
Arthralgias, brown sclera, urine turns black when exposed to air
Alkaptonuria
AR
homgentisic acid oxidase deficiency (degradation path of tyrosine to fumarate –> TCA cycle)
mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis, very high urine homocysteine
homocystinuria
cystathionine synthase deficiency
homocysteine methyl transferase deficiency
low affinity for B6
Cystine in urine
cystinuria
AR
defect in transporter for cysteine, ornithine, lysine and arginine
Baby, Severe mental retardation, urine smells like maple syrup, high blood ketones
Maple Syrup Urine Disease
blocked degradation of branched amino acids
Ile, Leu, Val
I Love Vermont maple syrup from maple tree branches
Dermatitis, Diarrhea, Dementia, high neutral amino acids in urine
Hartnup disease
tryptophan excretion leads to low niacin, hence pellagra
baby severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly
Von Gierke’s
Glucose 6 phosphatase deficiency
Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular and renal disease
Fabry's XR Clumsy hands break the ceramic Fabrychey(sp?) egg a-galactosidase A def. Ceramide accum.
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe’s
Galactocerebroside
Central and peripheral demyelination with ataxia, dementia
Metachromatic leukodystrophy
Arylsulfatase A
Weakness, hypotonia, hypoketotic hypoglycemia
Carnitine deficiency
Can’t get LCFAs into mitochondria because of Acyl CoA DH def. –> No TCA, No Ketones
Increased orotic acid in urine, megaloblastic anemia that does not improve with B12, failure to thrive, no hyperammonemia
Orotic Aciduria
defect UMP synthase, no pyrimidine synthesis
High orotic acid in urine, low BUN, sings of hyperammonemia (asterixis, confusion)
OTC deficiency
X linked
Urea cycle disorder –> high ammonia
Carbamoyl Phosphate accumulates and shunts to the production of orotic acid.
Telangiectasia, recurrent epistaxis, skin discolorations, AVMs
Hereditary hemorrhagic telangiectasia
aka
Osler-Weber-Rendu Syndrome
AD
Bilateral acoustic schwannomas, juvenile cateracts
Neurofibromatosis type 2
Chr 22
AD
Facial lesions, hypopigmented ash leaf spots, hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas, risk of astrocytomas
Tuberous Sclerosis
Macroorchidism, long face, large jaw, large everted ears, autism, mitral valve prolapse
Fragile X syndrome
X linked, Tri nucleotide repeat: CGG
methylation and expression of FMR1 gene
microcephaly, mental retardation, high pitched crying, epicanthal folds, cardiac abnormality
Cri-du-chat syndrome
has VSD
microdel of Chr5
Elfin facies, intellectual disability, hyper calcemia, well developed verbal skills, extreme friendliness, cardiovascular problems
Williams syndrome
Del Chr7
William has 7 letters
Confusion, ataxia, ophthalmoplegia, confabulations, memory loss, personality chagnes
Wernicke-Korsakoff Syndrome
B1 deficiency, impaired glucose breakdown, low ATP
memory loss is permanent
damage to medial dorsal nucleus of thalamus and mammillary bodies
hypoglycemia, jaundice, cirrhosis, vomiting
Fructose intolerance
def. Aldolase B
F1P accumulates, decreasing available phosphate
Failure to thrive, jaundice, Hepatomegaly, infantile cataracts, mental retardation
Classic galactosemia def Galactose-1-phosphate uridyltransferase
Severe, recurrent pyogenic sinus and respiratory tract infections
C3 deficiency
Recurrent Neisseria bacteremia
C5-C9 deficiency
Sinopulmonary infections acquired in 20s-30s, lymphoma
CVID
Common variable immunodeficiency
Normal # B cells, low plasma cells and immunoglobulins
Disseminated mycobacterial infections
IL-12 receptor deficiency
low Th1 response, low IFNg
Ataxia, telangiectasia, IgA deficiency (sinus infections)
Ataxia-telangiectasia
Defect in ATM gene, codes for DNA repair
Thrombocytopenic purpura, recurrent infections, Eczema
Wiskott-Aldrich
X linked
WAS gene on Chr X
High IgE and IgA, low IgM
WASps wear TIEs
Recurrent infections, no pus, delayed separation of umbilical cord
Leukocyte Adhesion Deficiency
defect in integrin (CD18)
Neutrophilia
Maculopapular rash, jaundice, HSM, diarrhea
Grave-versus-host
Graft T cells react against host
Cirrhosis, diabetes mellitus, skin pigmentation
Hemochromatosis
AR
Can Cause Deposits - CHF, Cirrhosis, Diabetes
risk of hepatocellular carcinoma
mutation on HFE gene
assoc. with HLA-A3
Diarrhea, flushing, asthmatic wheezing, right sided valve disease
Carcinoid Syndrome
Neuroendocrine cells of small bowel (most common tumor of the appendix)
Secretes 5HT, symptoms only if metastasized (first pass metabolism)
Increased 5HIAA in urine
Rx: somatostatin analog (octreotide)
Rule of 1/3’s: 1/3 metastasize, 1/3 present with 2nd malignancy, 1/3 multiple
Elderly female, unilateral headache, jaw pain
Temporal (Giant Cell) arteritis
Branches of carotid arteries
Focal granulomatous inflammation
(Large-Vessel)
Asian female, fever, nightsweats, arthritis, myalgia, ocular disturbances, weak upper extremity pulses
“Pulseless disease”
Takayasu’s arteritis
Granulomatous thickening of aortic arch, proximal great vessels
(Large-vessel)
Young adult, Fever, weight loss, malaise, headache, abd pain, melena, hypertension, cutaneous eruptions, proteinuria/oliguria
PAN - Polyarteritis Nodosa
Beads on a string aneurysms of renal and viseral vessels NOT PULMONARY ARTERIES
Immune-complex, transmural with fibrinoid necrosis
Think of Pan, the Satyr, feeling miserable with fever and malaise, and headache and belly ache, laying in the tree branches. His hair legs remind us of cutaneous eruptions and melena. He plays the Pan Flute because his pulmonary arteries are not affected. And his beaded necklace reminds us of the beads on a string, immune complex deposition pathology
(medium-vessel)
Asian child, fever, cervical lymphadenitis, strawberry tongue, hand and foot erythema, rash
Kawasaki’s disease
Coronary Aneurysms –> MI, rupture
Rx: ASA and IVIG
(medium-vessel)
chronic sinusitis and otitis media, perforated nasal septum, hemoptysis, cough, shortness of breath, hematuria
Wegener’s granulomatosis
Triad:
Focal necrotizing vasulitis
Necrotizing granulomas in lung
Necrotizing glomerulonephritis
c-ANCA
Rx: cyclophosphamide,
(small-vessel)
Asthma, sinusitis, palpable purpura, wrist or foot drop
Churg-Strauss
p-ANCA, high IgE
Granulomatous, necrotizing, eosinophilia vasculitis
May involve heart, kidneys, GI (eosinophilic gastroenteritis)
Episodic head ache, sweating, palpitaions
Pheochromocytoma
Adrenal medulla tumor of chromaffin cells (neural crest), secrete NE, E, D
Urinary VMA
5Ps: Pressure, Pain, Perspiration, Palpitations, Pallor
Rule of 10s: 10% malignant, 10% billateral, 10%, extra adrenal, 10% calcify, 10% kids
Bone pain, cystic bone spaces with brown fibrous tissue
Osteitis fibrosa cystica
Hyperparathyroidism
Infant failure to thrive, steatorrhea, neuro deficits
Abetalipoproteinemia
Can’t make chylomicrons, fat accumulates in enterocytes
High total and direct bili
Dubin-Johnson Syndrome
Grossly black liver
problem with excretion of conjugated bilirubin into bile
Confusion, cramping abdominal pain, purple lines on gums
Lead pisoning, inh ferrochelatase and ALA DH, decrease heme synthesis
Sideroblastic anemia, wrist and foot drops
Rx: dimercaprol, succimer for kids
hemolytic anemia in newborn
Pyruvate kinase deficiency
Fatigue, anemia, jaundice, low haptoglobin, dark urine, pancytopenia, venous thrombosis
Paraxoysmal nocturnal hemoglobinuria
Hemolytic anemia
complement mediated lysis, named for when low O2 levels at night caused hemolysis and dark urine in the morning, need not present that way.
impaired synthesis of GPI anchor or decay-accelerating factor that protect RBCs from complement
Abdominal pain, polyneuropathy, red urine, psychological disturbances
Acute intermittent porphyria
Def Porphobilinogen deaminase, increased dALA
Rx: glucose and heme
Blisters, photosensitivity
And a thirst for bloooood! Porphyria cutanea tarda Def Uroporphyrinogen decarb acumulages uroporphyrin (tea colored urine) Most common porphyria
Hemarthrosis, easy bruising, elevated PTT
Hemophilia A or B
epistaxis, petechiae, increased bleeding time, low platelet count
Bernard-Soulier, ITP, or TTP
BS: low GpIb, platelets can’t bind vWF
ITP: anti GpIIb/IIIa antibodies, spleen eats (increased megakaryocytes)
TTP: def. ADAMTS13 for degrading vWF multimer (use up all the platelets)
neurologic and renal symptoms, fever, thrombocytopenia, microangiopathic hemolytic anemia
TTP
epistaxis, petechiae, increased bleeding time, normal platelet count
Bernard-Soulier or vWF
vWF has increased PTT because of loss of factor VIII
Difficulty swallowing, fingers turn white in cold, spider angiomas
CREST syndrome
Calcinosis, Raynaud’s, Esophageal dysmotility, Sclerodactyly, Telangiectasia
Anti-Centromere antibodies
Puffy and taut skin, absence of wrinkles, widespread involvement
Scleroderma
sclerosis also involves renal, pulmonary, cardiovascular and GI systems (pulmonary sclerosis most likely cause of death)
scl-70 antibody (anti-DNA topoisomerase I)
Multiple crusty and weepy erythematous erosions, flaccid blisters, separation of epidermis upon manual stroking of skin
Pemphigus vulgaris
Intraepidermal bullae
IgG ab vs desmoglein 3 of the desmosomes
potentially fatal autoimmune
reticular or net-like immunofluorescence
Tense blisters, sparing the oral mucosa
Bullous pemphigoid
IgG vs hemidesmosomes (epidermal basement membrane.
Linear immunoflurescence
eosinophils in tense blisters
Fever, blisters, skin necrosis and sloughing
Stevens-Johnson syndrome
high mortality
if >30% surface area = Toxic Epidermal Necrolysis
Loss of pain and temperature sensation in the upper extremities with fine touch preserved
Syringomyelia
Often “cape-like” distribution
cystic enlargement in C8-T1
Pt commonly has burns on hands that they don’t feel.
Bladder incontinence, staggering unsteady gait, confusion
Normal pressure hydrocephalus
urinary incontinence, ataxia, cognitive dysfunction (sometimes reversible)
Wet, wobbly, wacky
Hyperreflexia, hypertonia, flaccid paralysis, fasciculations, atrophy
Amyotrophic lateral sclerosis
Combined UMN/LMN
Sensory INTACT, as is cognitive and oculomotor
Floppy baby with marked hypotonia and tongue fasciculations
Werdnig-Hoffman Dz
Congenital degeneration of Anterior horns –> LMN lesion
Staggering gait, frequent falls, nystamus, dysarthria, pes cavus, hammer toes, hypertrophic cardiomyopathy, kyphoscoliosis in childhood
Friederich Ataxia
AR, trinuc: GAA that encodes Frataxin
impaired mitochondrial fxn
Double vision, difficultly moving eyes, decreased corneal sensation, decreased sensation on upper lip
Cavernous Sinus Syndrome
mass effect, fistula etc in cavernous sinus compressing CNs III, IV, V1, V2, IV
Elderly African American with progressive loss of peripheral vision
Open Angle glaucoma
Optic disc atrophy with cupping
decreased outflow at trabecular meshwork
Very painful, sudden vision loss, halos around lights, with frontal headache
Acute Narrow Angle Closure Glaucoma
Rock hard eye
True emergency
DO NOT GIVE EPI
Dementia, aphasia, personality changes, parkinsonian aspects
Pick’s disease
Frontotemporal dementia
Pick bodies: spherical tau protein aggregates
Bradykinesia, resting tremor, dementia, hallucinations
Lewy body dementia
alpha-synuclein defect
Urine discharge from umbilicus
Patent urachus (failure to obliterate) Allantois becomes urachus, duct between fetal bladder and yolk sack.
Heavy period bleeding, painful menses, painful intercourse
Endometriosis
endometrium in abnormal location
Uterus is normal sized
Chocolate cysts in ovary, women may be infertile
Heavy period bleeding, painful menses, pelvic pain, enlarged uterus
Adenomyosis
endometrium in myometrium
Face and arm swelling, often worse in the morning, JVD
Superior vena cava syndrome
Associated with Lung cancer
Medical emergency which can raise ICP, increase risk of aneurysm/rupture
Ptosis, miosis, anhidrosis, arm pain and muscle weakness
Pancoast tumor
Lung cancer
Child with bone pain, lytic bone lesions, skin rash
Langerhans cell histiocytosis
Proliferation of Langerhans (skin dendritic cells) that are functionally immature, can’t present antigen to T cells
S-100+, CD1a+
Birbeck granules - tennis rackets on EM
Painful, red, swollen extremities, ecchymosis, while anticoagulated
Heparin Induced Thrombocytopenia (HIT)
IgG abs against heparin bound to platelet factor 4, complex activates platelets
HIT type 1 - >100,000 platelets, non ab mediated
HIT type 2 - <100,000 platelets, ab mediated
Rx: stop Hep, use lepirudin, bivalirudin, argatroban
Rigidity, myoglobinuria, hyperpyrexia, autonomic instability
Neuroleptic malignant syndrome
assoc with Antipsychotics
Rx: dantrolene, D2 agonists like bromocriptine
Ascites, hydrothorax, ovarian fibroma, pulling sensation in groin
Meigs’ syndrome
hydrothorax is like ascites that leaks into the pleural space. its a pleural effusion of serous fluid, also seen in cirrhosis
