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congenital disease
general pathology
| Question | Answer |
|---|---|
| cafe au lait spots, Lisch nodules | neurofibromatosis type 1 |
| bilateral acustic schwannomas, multiple meningiomas | neurofibromatosis type 2 |
| chromosome 22 affects tumor suppressor merlin | neurofibromatosis type2 |
| chromosome 17 affects neurofiromin | neurofibromatosis type1 |
| collagen defect | osteogenesis imperfecta |
| fibrillin defect | Marfan |
| Hamartin, Tuberin defect (tumor suppressor genes) | tuberous sclerosis complex |
| tuberous sclerosis complex triad | MR, epilepsy, adenoma |
| patient w/ ashleaf hypopigmentation might expect to have what wrong with their teeth or eyes? | dental enamel pits |
| deep blue sclera, hypoplastic dentin | ostegenesis imperfecta type 1 |
| bone fragility, early death due to trauma during delivery | OI type II |
| patient w/ high-arched palate, retrognathic, bilateral dislocation of lens is likely to have what other traits | arachanodactyly, aortic dilation, spontaneous pneumothorax (collapsed lung) - Marfans |
| genetic cause of huntingtons disease | too many trinucleotide repeats accumulating on the huntingtin gene |
| patient w/ dimentia, chorea (involuntary movements would be expected to have tissue damage where? | brain (specifically caudate nucleus & putamen) |
| what is anticipation (w/ regard to genetic disease)? | disease manifests itself earlier in subsequent generation (in Huntingtons due to accumulation of repeats) |
| lysosomal storage disorder affecting the neurons would present what symptoms? | mental retardation |
| disorder manifesting itself w/ hepatosplenomegaly and fatty cells in lymph nodes, spleen and bone marrow would have a defect in what protein? | glucocerebrosidase (Gaucher's) |
| patient with marked skin hyperextensibility joint hyperlaxity ("bendiness"), & scoliosis may have a mutation w/ what enzyme? | lysyl hydroxylase (AR Ehler's-Danlos) - LH modifies collagen OR type V collagen (AD Ehler's) |
| wilson's disease | accumulation of cupper in liver,brain & eye due to defect in hepatocyte metal ion transporter |
| wilson's disease symptoms | copper accumulation in liver leading to free radical formation -> necrosis |
| Kayser - Fleischer rings diagnosis confirmed by what serum finding? | decreased levels of ceruloplamin (Wilson's disease) |
| what is hydrops fetalis? | edema of fetal compartments, particular subcutaneous, but also pericardium & abdomen. caused by rh mismatch |
| patient with congenital tumor on adrenal gland medulla | neuroblastoma |
| top 2 causes of death in infants? | perinatal related, congenital anomaly |
| top cause of death in children 1-14 | injuries |
| encehalocele | protrusion of brain material + meninges |
| meningocele | protrusion of CNS meninges through bony defect forming a CSF cyst due to neural tube defect |
| meningomyelocele | protrusion of spinal cord meninges due to posterior vertebral column defect |
| omphalocele | congenital herniation in uterus into base of umbilical cord |
| gastroschisis | congenital herniation in uterus abdomen wall - does not involve umbilical cord |
| infant patient with thrombocytopenia, hepatosplenomegaly, MR, blind & deaf | congenital CMV |
| rubella triad | ventricular defect, deaf, cataracts |
| child w/ agenesis of kidney due to lack of amniotic fluid in mother | potter's syndrome |
| vitamin A functions | maintain vision, potentiate specialized epithelial differentiation, minor immunity role |
| vitamin A deficiency | night blindness, keratinization of URT |
| vitamin D function | absorption of phosphorus & calcium |
| vitamin D deficiency | rickets (children) |
| vitamin C functions | hydroxylate procollagen |
| vitamin C deficiency | scurvy |
| vitamin B1 | thiamin, needed for neural function & metabolism |
| vitamin B1 deficiency | beriberi - wide range of CV, neural, muscular & GI effects |
| vitamin B3 | niacin - converted to NAD & NADP - roles in metabolism, DNA repair |
| vitamin B3 deficiency | pellagra - senstivity to light, skin ailments, progessive dementia |
| fat soluble vitamins | A & D |
| marasmus | malnutrition (particularly protein) to < 60% normal weight |
| kwashiorkor | protein deficiency - causes generalized edema - swollen stomach |
Created by:
beuscher
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