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85 Cards in this Set
- Front
- Back
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Chediak Higashi
syndrome |
autosomal recessive, neutropenia, albinism, cranial
and peripheral neuropathy, tendency to develop repeated infections, abnormal WBCs (abnormal mictotubul formation and large cytoplasmic granules = lysosomes) p25 |
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Cri du chat syndrome
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5p chromosome deletion, severe mental retardation,
microcephaly, catlike cry, low birth weight, round face, hypertelorism (wide eyes) p51 |
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DiGeorge syndrome
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aka velocardiofacial syndrome and CATCH 22
syndrome, micro deletion of 22q11, Cardiac abnormalities, Abnormal facies, T cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcemia due to hypoparathyroidism, from poor development of 3rd and 4th cranial arches p51 and p73 |
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Edwards syndrome
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aka trisomy 18, mental retardation, prominent
occiput, micrognathia (small jaw), low::set ears, rocker::bottom feet, finger deformities, congenital heart dx p51 |
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Patau syndrome
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aka trisomy 13, mental retardation, microcephaly,
micropthalmia, brain abnormalities, cleft lip/palate, polydactyly, rockerbottom feet, congenital heart dx p51 |
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Klinefelter syndrome
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at least 2 X and one Y, hypogonadism, tall,
gynecomastia, low testosterone, high pituitary gonadotropins, infertility, p51 |
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Turner syndrome
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45 XO, female hypogonadism, hypothyroid, short,
webbed neck, 1* amenorrhea p52 |
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Prader willi syndrome
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paternal transmission del (15)(q11q13), hypogonad,
hypotonia, mental retardation, behavior probs, uncrontrolled appetite p53 |
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Angelman syndrome
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materal transmission del(15)(q11q13), aka happy
puppet syndrome, mental retardation, ataxia, seizures, inappropriate laughter p53 |
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Osler Weber Rendu syndrome
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aka hereditary hemorrhagic telangectasia,
telangectasias in skin and mucous membranes, epistaxis, GI bleeds p55 and p189 |
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Marfan syndrome
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deficient fibrillin (constituent of microfibrils),
arachnodactyly, ectopia lentis, aortic aneurysm, mitral valve prolapsed p55 |
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Von Recklinhousen dx
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aka neurofibromatosis, neurofibromas in skin,
schwannomas of CN VIII, café au lait spots, lisch nodules, skeletal disorders, other tumors, mutated NF1 tumor suppressor gene, osteolytic lesions, brown tumors p55 and p96 and 347 |
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Von Hippel Lindau dx
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hemangioblastoma or cavernous hemangioma of
cerebellum, brainstem or retina, adenomas, cysts in liver, kidney, pancreas, and other organs, increased renal cell CA, gene = short arm of chromosome 3 p55 and p127 |
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Tay Sachs dx
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deficient hexosaminidase A, GM2 ganglioside
accumulation, especially in neurons, CNS degeneration, mental/motor deterioration, blindness, cherry red spot on macula, death by 4 years of age p56 |
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Gaucher dx
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deficient glucocerebrosidase, accumulation of
glucocerebroside in cells of mononuclear phagocyte system 3 types :: see p 56 4 |
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Niemann Pick dx
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deficient sphingomyelinase, accumulation of
sphingomyelin in phagocytes, foamy histiocytes in liver, spleen, lymph nodes, skin, hepatosplenomegaly, anemia fever, occasional neuro degeneration, half have cherry red spot macula p 57 |
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Hurler syndrome
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mucopolysaccharidosis, deficient a L iduronidase,
accumulations of heparin sulfate and dermatan sulfate in heart, brain, liver, and other organs, progressive, hepatosplenomagaly, dwarfism, gargoyle-like facies, stubby fingers, corneal clouding, mental retardation, death by 10 years of age p57 |
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Von Gierke dx
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deficient glucose-6-phosphatase, accumulation of
glycogen in liver and kidney, hepatomegaly, hypoglycemia p57 |
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Pompe dx
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deficient a1,4 glucosidase, accumulation of glycogen
in liver, heart, skeletal muscle, cardiomegaly, muscle hypotonia, spelnomegaly, intractable hypoglycemia, death from cardiorespiratory failure before age 3 p57 |
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Cori dx
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deficient debranching enzyme
amylo-1,6-glucosidase, glycogen in liver, heart, skeletal muscle, stunted growth, hepatomegaly, hypoglycemia p57 |
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McArdle syndrome
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deficient muscle phosphorylase, glycogen in skeletal
muscle, cramps with exertion p57 |
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Hunter syndrome
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similar to Hurler, deficient L iduronosulfate
sulfatase, accumulations of heparin sulfate and dermatan sulfate, hepatospenomegaly, micrognathia, retinal degeneration, joint stiffness, mental retardation, cardiac lesions p59 |
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Fabry dx
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aka angiokeratoma corporis diffusum universal,
deficient a::galactosidase A, accumulate ceramide trihexoside, skin lesions angiokeratomas, fever, burning pain in extremities, cardiovascular and cerebrovascular involvement, death as adult by renal failure p59 |
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Lesch Nyhan syndrome
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deficient hypoxanthine::guanine
phosphoribosyltransferase (HGPRT), low purine metabolism, high uric acid, thus gout, mental retardation, choreoathetosis, spasticity, self mutilation, aggressiveness p59 |
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Brutons Agammaglobulinemia
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x linked, absence of plasma cells and serum
immunoglobulins, cell mediated immunity still ok, no germinal centers, recurrent bacterial infections, resistances to fungal and viral still, btk gene defect p73 |
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Wiskott Aldrich
syndrome |
x linked, aka immunodeficiency with
thrombocytopenia and eczema, total immunoglobulins often normal, recurrent infections p74 |
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Raynaud phenomenon
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vasosmasm of small vessels, most often in fingers,
seen with autoimmune dx like SLE, scleroderma and others (R in CREST), recurrent vasospasm, always secondary to underlying disorder p77 and p129 |
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Raynaud disease
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different in that it is the primary disorder, recurrent
vasospasm of small arteries and venules, pallor, cyanosis, fingers and toes, young healthy women p129 |
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Li Fraumeni syndrome
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lots of tumors, breast CA, soft tissue sarc, brain
tumors, leukemias, has loss of p53 tumor suppressor gene p96 |
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Lynch syndrome
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hereditary nonpolyposis colon cancer, DNA repair
genes messed up p96 |
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Wernicke Korsakoff syndrome
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thiamine deficiency, cerebral dysfunction, aka
alcoholic encephalopathy, hemorrhagic lesions in the mamillary bodies, confusion, ataxia, ophthalmoplegia, and memory loss plus confabulation p 105 and p115 |
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Reye syndrome
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aspirin toxicity seen in kids after acute febrile viral
dx, microvesicular fatty change in liver and encephalopathy p108 |
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Beriberi
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this comes in a wet variety and a dry one, they are
both Vit B1 thiamine deficiency Dry beriberi peripheral neuropathy, atrophy of muscles, wet - high output cardiac failure, DCM, AV shunting, hypervolemia p116 |
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Churg Strauss
syndrome |
aka allergic granulomatous angiitis, necrotizing
vasculitis, variant of polyarteritis nodosa, involves pulmonary vasculature, peripheral eosinophilia, and asthma p128 |
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Henoch Schonlein
Purpura |
hemorrhagic urticaria of extensor surgaces of arms,
legs, and buttocks, with fever, arthralgias, and GI renal involvement similar to IgA nephropathy, associated with URIs p128 and 189 |
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Wegener
granulomatosis |
unknown etiology, necrotizing granulomatous
vasculitis of small to medium sized vessels of the respiratory tract, kidneys, and other organs, circulating C-ANCAs p128 |
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Takayasu arteritis
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aka pulseless dx, inflammation and stenosis of
medium and large sized arteries, often aortic arch thus aortic arch syndrome p129 |
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Kawasaki dx
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aka mucocutaneous lymph node syndrome, acute
self-limited, infants and young kids, acute necrotizing vasculitis of small and medium vessels, fever hemorrhagic edema of conjunctivae, lips and oral mucosa, and cervical LAD, can cause coronary artery vasculitis with aneurysm formation p129 |
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Buerger dx
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aka thromboangiitis obliterans, acute inflame of
small and med arteries of extremities, extending to adjacent veins and nerves, young jewish men, painful ischemic dx, worse with smoking p129 |
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Libman Sacks endocarditis
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occurs in SLE, small vegitations on either or both
surfaces of valves p141 |
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Plummer Vinson
syndrome |
iron deficient anemia associated with
upper::esophageal web p157 |
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Mediterranean anemia or Cooley
Anemia |
B Thalassemia major
p163 |
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Hodgkin dx
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malignant lymphoma with features resembling
inflammatory disorder, young men, Reed Sternburg cells p176 |
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Waldenstrom Macroglobulinemia
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manifestation of lymphplasmocytic lymphoma, B cell
neoplasm p176 |
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Burkitt lymphoma
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aggressive B-cell lymphoma, EBV, starry sky
appearance, c myc p179 |
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Bernard Soulier dx
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autosomal recessive, unusually large platelets, lack of
“GPIb IX V” p191 |
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Kartagener syndrome
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defective cilia, sinusitis, bronchiectasis, situs
inversus, sometimes hearing loss and male sterility p202 |
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Pancoast tumor
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aka superior sulcus tumor, seen in bronchogenic CA,
often with Horner’s p 212 |
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Zenker diverticulum
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esophageal diverticulum just above upper esoph
sphincter p221 |
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Virchow node
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superclavicular lymph node identifying metastatic
stomach CA p224 |
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Krukenberg tumor
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metastatic stomach CA to ovary
p224 |
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Hirschsprung dx
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aka congenital megacolon, dilation of colon due to
absence of ganglion cells p227 |
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Whipple dx
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malabsorption syndrome, Tropheryma wippelii
bacilli, small intestine commonly affected, arthralgias, cardiac, and neuro symptoms p227 |
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Peutz Jeghers
syndrome |
hamartomatous polyps in colon and small intest,
freckles on lips, hands, genitalia, higher incidence of adeno CA of colon and other malignancies, stomach, breast, ovaries p230 |
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Gardner syndrome
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autosomal dominant, numerous adenomatous polyps
along with osteomas and soft tissue tumors p230 Turcot syndrome adenomatous polyps with tumors of CNS p230 |
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Gilbert syndrome
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modest elevated serum unconj bilirubin, due to
decreased uptake by liver cells and reduced activity of glucuronyl transferase p239 |
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Crigler Najjar
syndrome |
severe unconj hyperbilirubinemia due to deficient
glucuronyl transferase p239 |
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Dubin Johnson
syndrome |
autosomal recessive, conj hyperbilirubinemia, defect
in bili transport, black color to liver p239 |
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Rotor syndrome
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similar to Dubin Johnson with no
black liver p239 |
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Wilson dx
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autosomal recessive, hepatitis, accumulation of
copper due to transport problem, low ceruloplasmin seen, kayser fleischer rings in eyes p245 |
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Budd Chiari
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thrombotic occlusion of major hepatic veins,
abnormal pain, jaundice, hepatomegaly, acites, liver failure, assoc with polycythemia vera, hepatocellular CA, and other common neoplasms, may occur as a complication of pregnancy p246 |
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Potter sequence
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oligohydramnios causes fetus to be
smashed p257 |
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Goodpasture syndrome
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aka antiglomerular basement membrane dx,
antibodies against alveolar and glomerular basement membranes, linear immunoflorescence p261 |
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Alport syndrome
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hereditary nephritis associated with nerve deafness
and ocular disorders, mutation in gene for the a5 chain of type IV collagen p261 |
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Berger dx
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aka IgA nephropathy, deposition of IgA in
mesangium, benign recurrent hematuria in kids following infection p261 |
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Fanconi syndrome
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renal tubular dysfunction, impaired reabsorption of
glucose, amino acids, phosphate, and bicarb thus glycosuria, hyperphosphaturia, hypophosphatemia, aminoaciduria, systemic acidosis p264 |
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Hartnup dx
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impaired tubular reabsorption of tryptophan,
pellagra::like manifestations p264 |
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Wilms tumor
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clear cell renal tumor seen in kids
p266 |
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Denys Drash syndrome
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abnormal WT 1 gene, intersexual disorders,
nephropathy, wilms tumor p266 |
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Beckwith Weidemann syndrome
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hemihypertrophy, macroglossia, organomegaly,
neonatal hypoglycemia, various embryonal tumors, deleted WT 2 gene p268 |
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Peyronie dx
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subcutaneous fibrosis of dorsum of
penis p279 |
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Bowenoid papulosis
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appears as multiple wart-like lesions resembling
condyloma accuminatum p280 |
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Bowen dx
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single erythematous plaque on shaft of penis or
scrotum p280 |
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Paget dx of vulva
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similar to paget breast, sometimes related to
underlying adenoCA of sweat glands p291 |
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Stein Leventhal
syndrome |
aka polycystic ovary syndrome, young women,
amenorrhea, infertility, obesity, hirsutism p295 |
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Brenner tumor
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ovarian tumor resembling bladder
transitional epith p296 |
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Meigs syndrome
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triad of ovarian fibroma, ascites,
hydrothorax p297 |
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Sheehan syndrome
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post-partum, low TSH ACTH
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Paget dx of breast
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eczematoid lesion of nipple areola, large cells with
clear “halo like” area, invade epidermis, underlying ductal CA p300 |
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Paget dx of bone
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aka osteitis deformans, increased osteoclastic and
osteoblastic activity p348 |
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Simmonds dx
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aka pituitary cachexia, generalized
panhypopituitarism p312 |
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Addison disease
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primary adrenal failure p312
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Nelson syndrome
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development of large pituitary adenomas following
bilat adrenalectomy p313 |
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Graves dx
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autoimmune thyroiditis, hyperthyroid,
exophthalmos, increased in HLA DR3 and HLA B8 pos people p315 |
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Plummer dx
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combination of hyperthyroidism, nodular goiter,
absence of exophthalmos p315 |
