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22 Cards in this Set
- Front
- Back
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Patient comes in and you notice that they have bronze- colored skin. He also has new onset Type I diabestes, with excess iron deposits in liver, pancreas, heart and skin. You notice cardiomyopathy as well.
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Hemochromatosis
small intestine takes up too much iron |
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Patient presents with recurrent infections, partial albinism, neuropathy. You suspect that they might develop lymphoid cancer. What is this syndrome and what is the issue here?
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Chediak-Higashi syndrome
WBCs have abnormal microtubules- faulty cell movement, lysosomal fusion and non-functional granules. |
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Lack of GpIb and causes excessive bleeding
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Bernard-Soulier disease
you need GpIb for platelet adhesion to VWF |
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This results in excessive bleeding and is caused due to the lack of GpIIbIIIa
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Glanzmann's Thrombasthenia
you need Gp2b3a for platelet to platelet adhesion aka platelet aggregation is disrupted |
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sphere shaped RBCs due to defect in spectrin
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Spherocytosis
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defect that prevents optimal function of factor 8 and of platelet.
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Von Willebrand disease
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Your patient looks lanky and gross. Kidding. The patient has hyperextensible skin and joints due to abnormal collagen and/or elastin
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Ehlers-Danlos syndrome
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Your patient is crazy tall and thinn with ectopia lentis (lens discloration). You suspect that its Marfan syndrome. what is this the defiency of?
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Fibrillin, yielding defective microfibrils (critical to CT)
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cafe au lait spots, axillary freckling, neurofibromas, optic nerve gliomas, pigmented nodules in iris (Lisch nodules)
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Neurofibromatosis 1
Von Recklinghausen disease |
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Bilateral schwannomas, multiple meningiomas, hearing deficits due to loss of NF2 gene.
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Neurofibromatosis 2
Acoustic Neurofibromastosis |
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Tuberous Sclerosis
remember brains surface looks like a potato with eyes |
Hamartomas and benign tumors of brain--
cysts of liver, kidney and pancreas Mental retardation facial angiofibromas |
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Where do you see shagreen patches- yellow, leather patch over back
ASh leaf patches- looks like leaves, hypopigmentation |
cutaneous lesions of Tuberous scleroris
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von-Hippel Lindau has high risk of what type of carcinoma?
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Renal cell carcinoma
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40 year patient presents with marked chorea, psychiatric disturbance and cognitive decline. You realize that this might due a autosomal dominat genetic mutation
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Hunington Disease
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What is the trinucleotide repeat seen in hunington diease? What it does mean to have an increased number of trinucleotide repeats?
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CAG
Increased number (which happens with each progressive generation) means that the symptoms will express at an even earlier age |
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what hemorrage results as a cause of the most common aneursym seen in patients with polycystic kidney disease?
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Subarachnoid hemmorage due to rupture of a berry aneursym
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What drugs should you avoid if you suspect G6PD deficiency?
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sulfa drugs
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Large ears and testicles in males with mental retardation.
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Due to structural defects in chromosome X. Fragile x syndrome.
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What trinucleotide sequence do you see in Fragile X syndrome which demonstrate anticipation?
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CGG
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What are the characteristics of Fabry disease?
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A type of sphingolipodosis
Due to decreased alpha-galactosidase A Characterized by angiokeratomas (wart-like growths with taelangiectasias) and renal failure |
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Self mutilation as a result of deficiency in hypoxanthine guanine phosphoribosyltransferase (HGPRT), resulting in excess production of uric acid.
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Lesch Nyhan syndrome
** too much protein uptake~ or too much uric acid can cause it ** |
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The only mucopolysaccharidosis that is x-linked recessive. Why is it different from the other ones?
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Hunter's disease
Patients have normal corneas (hunters have to see) while the others have corneal clouding. ofcourse they both have mental retardation |
