USMLE BRS Path terms
1. 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
2. Cri du chat syndrome: 5p chromosome deletion, severe mental retardation,
microcephaly, catlike cry, low birth weight, round face, hypertelorism (wide eyes)
p51
3. DiGeorge syndrome: 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
4. Edwards syndrome: aka trisomy 18, mental retardation, prominent occiput,
micrognathia (small jaw), low::set ears, rocker::bottom feet, finger deformities,
congenital heart dx p51
5. Patau syndrome: aka trisomy 13, mental retardation, microcephaly,
micropthalmia, brain abnormalities, cleft lip/palate, polydactyly, rockerbottom feet,
congenital heart dx p51
6. Klinefelter syndrome: at least 2 X and one Y, hypogonadism, tall,
gynecomastia, low testosterone, high pituitary gonadotropins, infertility, p51
7. Turner syndrome: 45 XO, female hypogonadism, hypothyroid, short,
webbed neck, 1* amenorrhea p52
8. Prader willi syndrome: paternal transmission del (15)(q11q13), hypogonad,
hypotonia, mental retardation, behavior probs, uncrontrolled appetite p53
9. Angelman syndrome: materal transmission del(15)(q11q13), aka happy
puppet syndrome, mental retardation, ataxia, seizures, inappropriate laughter p53
10. Osler Weber Rendu syndrome: aka hereditary hemorrhagic telangectasia,
telangectasias in skin and mucous membranes, epistaxis, GI bleeds p55 and
p189 11. Marfan syndrome: deficient fibrillin (constituent of microfibrils),
arachnodactyly, ectopia lentis, aortic aneurysm, mitral valve prolapsed p55
12. Von Recklinhousen dx: 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
13. Von Hippel Lindau dx: 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
, .
14. Tay Sachs dx: 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
15 Gaucher dx: deficient glucocerebrosidase, accumulation of glucocerebroside
in cells of mononuclear phagocyte system 3 types :: see p 56
16. Niemann Pick dx: 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
17. Hurler syndrome: 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
18. Von Gierke dx: deficient glucose-6-phosphatase, accumulation of glycogen
in liver and kidney, hepatomegaly, hypoglycemia p57
19. Pompe dx: 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
20. Cori dx: deficient debranching enzyme amylo-1,6-glucosidase, glycogen in
liver, heart, skeletal muscle, stunted growth, hepatomegaly, hypoglycemia p57
21. McArdle syndrome: deficient muscle phosphorylase, glycogen in skeletal
muscle, cramps with exertion p57
22. Hunter syndrome: 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
23. Fabry dx: 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
24. Lesch Nyhan syndrome: deficient hypoxanthine::guanine
phosphoribosyltransferase (HGPRT), low purine metabolism, high uric acid, thus
gout, mental retardation, choreoathetosis, spasticity, self mutilation,
aggressiveness p59
25. Brutons Agammaglobulinemia: 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
