Path peds

  1. 25q11 mutation. bilateral dislocation/subluxation of lens, dissecting aorta, valve defects, aneurysm
  2. Deficiency in lysyl hydroxylase --> decr hydroxylation of lysyl residues in collagen I & III. Autosomal recessive. Poor wound healing, hypermobile joints, ocular fragility
    Ehler's danlos
  3. Deficient synthesis of type III collagen: weakness in bowel wall and blood vessels. Autosomal dominant. Mutations in COL3A1 gene. Poor wound healing, hypermobile joints, ocular fragility
    Ehlers danlos
  4. Autosomal dominant dz are normally...
    Structural proteins & involving metabolic pathways (hypercholestemia)
  5. Hypercholesterolemia most common type
    Type II: receptor synthesized but its transport from ER to Golgi is impaired
  6. PKU (autosomal recessive) symptoms & cause
    Decr skin & hair pigmentation, musty odor, mental retardation. Deficiency in phenylalanine hydroxylase.
  7. deficiency of acid sphingomyelinase --> accumulation of sphingomyelin
    Niemann Pick dz
  8. mutations in gene that encodes glucosylceramidase. Accumulation of glucosylceramide (byproduct of RBC breakdown). Bone involvement, hepatosplenomegaly, may or may not have CNS involvement, autosomal recessive
    gaucher dz
  9. Epicanthic fold, flat facial profile, mental retardation. Semian crease.
    Down's syndrome trisomy 21.
  10. Chromosome 22q11.2 deletion dz
    DiGeorge & Velocardiofacial
  11. Defect in FMR1 gene.
    Fragile X
  12. Fragile X premutation
    50-200 CGG repeats
  13. Coaractation of aorta (bicuspid aortic valve defect) most commonly associated w/
    Turner's syndrome
  14. mental retardation. long face, large mandible, large everted ears, large testicles. Hypermethylation that leads to silencing of gene involved.
    Fragile X
  15. Mitochondrial mutations. progressive bilateral loss of central vision that leads to blindness
    Leber hereditary optic neuropathy
  16. 15q11-13 or 15q12
    Prader willi & angelman dz.
  17. mental retardation, short stature, hypotonia, obesity, small hands & feet, hypogonadism, prominent nasal bridge, almond shaped eyes w/ down turned lips, light skin & hair, soft skin
    Prader-willi (15q11-13)
  18. tumor of sympathetic ganglia & adrenal medulla. pseudorosettes (no cavity surrounded by tumor cells). Spontaneous regression
  19. Deletions or mutation of the q14 band of chromosome 13 or sporadic. No red reflex (cat's eye reflex). Rosettes. Spontaneous regression.
  20. most common primary tumor of kidney in children. Mutations at 11p13. p53 mutations. WAGR syndrome.
    Wilm's tumor
  21. WAGR syndrome
    11p13. Wilm's tumor, aniridia, genital abnormalities, mental retardation
  22. Beckwith-Wiedemann syndrome :enlargemt of body organs or entire body segments (hemihypertrophy); enlargemt of adrenal cortical cells
    associated w/ Wilm's tumor, 11p13
  23. Adult brain tumors tend to be supra-tentorium, Pediatric brain tumors tend to be infra-tentorium. most common malignant brain tumor in children
  24. increased intracranial pressure. child becomes listless, w/ vomiting & morning headache. stumbling gait, frequent falls, diplopia, papilledema, & 6th cranial nerve palsy. Positional dizziness and nystagmus are also frequent
  25. Tumor in brain, rarely in spinal cord. Most common glioma.
  26. 5p deletion syndrome.
    Cri du chat
  27. low birth weight, microcephaly, cat like cry, micrognathia/retrognathia, short hands & feet, simian crease, mentalretardation,
    spastic quadriparesis, small external genitalia. two eyes should be one eye-width apart. If it is more than that, it is hypertelorism
    Cri du chat
  28. Low birth weight and growth retardation. Microcephaly and mental retardation. Congenital heart disease. Craniofacial dysmorphy
    13q deletion
  29. Not all premutations are predisposed to expand. Usually from maternal transmission (esp in juvenile form). Paternal premutations usually shorten
    during transmission
    Fragile X
  30. Juvenile form associated with paternal transmission. Symptomatic w/ over 40 repeats.
    Huntington's CAG repeats
  31. Dominant-negative effect = gene product (protein) that can interfere with the function of the normal gene product in heterozygotes. Blue sclera
    Osteogenesis imperfecta.
  32. Vitamin B2 deficiency leads to
    cracks & sores in mouth/lips, purple tongue, cheilosis, corneal revascularization
  33. Potato blight ingestion during pregnancy may lead to
    neural tube defect
  34. Pickwickian Syndrome
    marked obesity, eventual right-sided heart failure, hypersomnolence, apnea
  35. autosomal recessive defect in transport protein responsible for hepatocellular excretion of bilirubin glucoronides.
    Dubin Johnson. Black liver. High in conjugated bilirubin.
  36. Physiologic jaundice
    • It begins in the face (bilirubin of 5 mg/dl)
    • Progresses to the mid-abdomen (15 mg/dl)
    • And then to the feet (20 mg/dl)
  37. Kernicterus: bilirubin levels of trigger
    • total bilirubin of 20 mg/dl
    • indirect bilirubin 18 mg/dl
  38. Ranking in cardiac malformations
    • VSD = 25-30%
    • ASD
    • Pulmonary stenosis
    • PDA
    • Tetralogy of Fallot
    • Coartaction of aorta
    • AV septal defect
    • Aortic stenosis
    • TGA
    • Truncus arteriosus
    • Total anomalous pulmonary venous connection
    • Tricuspid atresia
  39. Prevalence in Iranian & Mococan jews. Black liver
    Dubin Johnson
  40. Reye syndrome
    Giving aspirin to babies for Varicella (chickenpox) --> fatty liver damage & encephaloathy. No jaundice. General loss of mitochondrial fxn.
  41. ASD associated w/
    Paradoxical embolism= Stroke from a DVT
  42. Defects in which pulmonary vascular disease causes R to L shunt of blood. Initially caused by L to R shunt. Pulmonary vascular markings on X ray, thickening of pulmonary artery, pulmonary hypertension, cardiomegaly
    Eisenmenger syndrome
  43. R to L shunt due to a large VSD
    Eisenmenger complex
  44. Machine like murmur. large defects eventually leads to Eisenmenger syndrome w/ cyanosis & CHF. Pulmonary hypertension, R heart hypertrophy & dilation, atherosclerosis of pulmonary arteries
  45. Cardiac defect associated w/ trisomy 13 & 18
  46. Congenital rubella can lead to
    PDA, peripheral pulmonic stenosis, mitral regurgitation (in infancy)
  47. Eisenmenger complex can be caused by
    all cyanotic tardive dz (L to R shunts)
  48. Tetralogy of Fallot includes
    VSD, obstruction to right ventricular outflow, aorta that overrides VSD, R ventricular hypertrophy
  49. clubbing of fingertips are associated w/
    lung dz & long standing cyanosis
  50. Boot-shaped heart, proximal aorta larger than normal, diminished pulmonary trunk. May be accompanied by PDA & ASD (beneficial cuz they permit pulmonary blood flow)
    Tetralogy of Fallot
  51. Endocardial fibroelastosis (usually L ventricle) can be associated w/
    congenital aortic stenosis, coarctation of aorta, hypoplastic left ventricle
  52. Downward displacement of tricuspid valve into an underdeveloped right ventricle
    Ebstein malformation
  53. Need PDA & PFO to retain life
    TGA & Hypoplastic L heart
  54. Abnormality in septation of truncus arteriosus. Associated with maternal diabetes
  55. R ventricle & pulmonary artery hypertrophied & dilated --> hypotension (weak femoral pulses, BP of lower extremities lower than of upper extremities)
    Preductal coarctation of aorta
  56. L ventricle hypertrophied --> hypertension, claudication and coldness of lower extremities
    Post ductal coarctation of aorta
  57. most common form of congenital aortic stenosis
    bicuspid aortic valve
  58. Why hypertension in upper extremities of those w/ coarctation of aorta?
    hypertension in upper extremities due to hypoperfusion of kidneys --> renin secretion --> hypertension
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Path peds
Path peds